Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DLGAP2 9228 broad.mit.edu 37 8 1513941 1513941 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:1513941C>T ENST00000421627.2 + 3 1217 c.1083C>T c.(1081-1083)gcC>gcT p.A361A RP11-666I19.2_ENST00000518063.1_RNA NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 440 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACATTAAAGCCATGGGGGACG 0.572000 4 19 0 0 0.150653 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963450 73963450 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:73963450A>G ENST00000373468.1 - 3 1593 c.942T>C c.(940-942)taT>taC p.Y314Y KIAA2022_ENST00000055682.5_Silent_p.Y314Y Q5QGS0 K2022_HUMAN KIAA2022 314 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GAAAGGATTCATATCGAATTT 0.418000 47 50 0 0 0.870114 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783631 149783631 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:149783631T>A ENST00000427880.2 - 1 294 c.248A>T c.(247-249)cAc>cTc p.H83L HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.H83L|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.H83L Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 83 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) CTTGTTGTAGTGCGCCAGGCG 0.667000 37 89 0 0 0.840704 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115070 27115070 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:27115070G>A ENST00000377459.1 + 1 210 c.163G>A c.(163-165)Gtg>Atg p.V55M NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 55 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 CCTGGCTGCGGTGCTGGAGTA 0.652000 26 59 0 0 0.681144 0 0 UNC13A 23025 broad.mit.edu 37 19 17756536 17756536 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17756536G>A ENST00000428389.2 - 20 2566 c.2567C>T c.(2566-2568)aCg>aTg p.T856M UNC13A_ENST00000252773.7_Missense_Mutation_p.T768M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T766M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T768M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T768M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T768M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 768 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CTCAATGATCGTCTGCCCCAG 0.592000 4 36 0 0 0.184627 0 0 KCNK1 3775 broad.mit.edu 37 1 233802661 233802661 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:233802661A>G ENST00000366621.3 + 2 844 c.676A>G c.(676-678)Att>Gtt p.I226V KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.I110V NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 226 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CCTGAGCACCATTGGCCTGGG 0.483000 35 115 0 0 0.779181 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7529551 7529551 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:7529551G>A ENST00000359920.6 + 13 2568 c.2315G>A c.(2314-2316)gGg>gAg p.G772E CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G730R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G614E NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 772 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GACATTCCTGGGAGCTCTGAG 0.557000 16 32 0 0 0.479597 0 0 AGAP2 116986 broad.mit.edu 37 12 58125675 58125675 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:58125675G>T ENST00000257897.3 - 8 947 c.862C>A c.(862-864)Cga>Aga p.R288R AGAP2_ENST00000547588.1_Silent_p.R624R NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 624 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GCCTCGGCTCGGAGCTCCCGG 0.607000 4 14 0.150653 0.152202 0.150653 1 0 OR4A5 81318 broad.mit.edu 37 11 51411677 51411677 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:51411677C>A ENST00000319760.6 - 1 771 c.719G>T c.(718-720)gGc>gTc p.G240V NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AACGGTACTGCCGGAGCTGCA 0.398000 5 65 0.217242 0.218513 0.217242 1 0 NOS3 4846 broad.mit.edu 37 7 150696317 150696317 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:150696317C>A ENST00000297494.3 + 9 1353 c.996C>A c.(994-996)gcC>gcA p.A332A NOS3_ENST00000467517.1_Silent_p.A332A|NOS3_ENST00000484524.1_Silent_p.A332A|NOS3_ENST00000461406.1_Silent_p.A126A NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 332 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCTGGTACGCCCTCCCGGCAG 0.647000 130 124 4.07488e-59 6.83784e-59 0.870114 1 0 GABRR1 2569 broad.mit.edu 37 6 89888653 89888653 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:89888653G>T ENST00000435811.1 - 9 1679 c.1225C>A c.(1225-1227)Cag>Aag p.Q409K GABRR1_ENST00000454853.2_Missense_Mutation_p.Q426K|GABRR1_ENST00000369451.3_Missense_Mutation_p.Q339K NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 426 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGGGTCAGCTGCACCATCATC 0.542000 29 155 8.16721e-17 1.14441e-16 0.750413 1 0 KIAA0586 9786 broad.mit.edu 37 14 58927843 58927843 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:58927843G>T ENST00000423743.3 + 15 2150 c.1892G>T c.(1891-1893)aGa>aTa p.R631I KIAA0586_ENST00000261244.5_Missense_Mutation_p.R599I|KIAA0586_ENST00000556134.1_Missense_Mutation_p.R660I|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.R728I NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 599 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTAAGTCCAGACCACAGAGA 0.328000 5 16 1.23904e-05 1.35742e-05 0.184627 1 0 PSG7 5676 broad.mit.edu 37 19 43430641 43430641 + RNA SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:43430641G>C ENST00000446844.3 - 0 1026 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TATCGGTCCCGTATTTCACAT 0.522000 6 242 0 0 0.248553 0 0 GPR45 11250 broad.mit.edu 37 2 105859167 105859167 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:105859167C>T ENST00000258456.1 + 1 968 c.852C>T c.(850-852)tcC>tcT p.S284S NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 284 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.S284S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TGCCCCACTCCGTCTACAGCC 0.587000 75 220 0 0 0.870114 0 0 ZNF443 10224 broad.mit.edu 37 19 12542085 12542085 + Nonsense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:12542085T>A ENST00000301547.5 - 4 1098 c.901A>T c.(901-903)Aga>Tga p.R301* CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 301 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 GTGTGAGTTCTTTCATGTATT 0.408000 68 220 0 0 0.870114 0 0 DLGAP4 22839 broad.mit.edu 37 20 35154397 35154397 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:35154397C>A ENST00000373913.3 + 12 3219 c.2739C>A c.(2737-2739)ccC>ccA p.P913P RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.P913P|DLGAP4_ENST00000373907.2_Silent_p.P916P|DLGAP4_ENST00000340491.4_Silent_p.P377P|DLGAP4_ENST00000339266.5_Silent_p.P916P|RP5-977B1.7_ENST00000439595.1_RNA Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 916 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TGGAGACCCCCGAGAAGAGGA 0.572000 27 85 3.57733e-08 4.18572e-08 0.740014 1 0 APOH 350 broad.mit.edu 37 17 64225441 64225441 + Silent SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:64225441T>A ENST00000205948.6 - 1 94 c.57A>T c.(55-57)gcA>gcT p.A19A NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 19 blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TACTCCGTCCTGCAATAGCAA 0.418000 6 14 0 0 0.217242 0 0 CPAMD8 27151 broad.mit.edu 37 19 17039836 17039836 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17039836G>A ENST00000443236.1 - 24 3232 c.3201C>T c.(3199-3201)ccC>ccT p.P1067P NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1020 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CACTGGCCACGGGCTCTCCCA 0.572000 12 38 0 0 0.479597 0 0 AGMO 392636 broad.mit.edu 37 7 15430330 15430330 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:15430330T>C ENST00000342526.3 - 8 957 c.788A>G c.(787-789)cAt>cGt p.H263R NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 263 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 ATTAATGGGATGTGTTAAGCC 0.294000 35 153 0 0 0.819951 0 0 CSMD3 114788 broad.mit.edu 37 8 113293570 113293570 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:113293570C>A ENST00000297405.5 - 59 9585 c.9341G>T c.(9340-9342)tGt>tTt p.C3114F CSMD3_ENST00000455883.2_Missense_Mutation_p.C2945F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3044F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3074F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3114 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGGTTACCACACTGCACAGC 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 46 5.03518e-11 6.43904e-11 0.557998 1 0 TNR 7143 broad.mit.edu 37 1 175348704 175348704 + Silent SNP G G A rs140708810 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:175348704G>A ENST00000367674.1 - 9 2655 c.1947C>T c.(1945-1947)acC>acT p.T649T TNR_ENST00000263525.2_Silent_p.T649T NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 649 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGGTGGCCCTGGTGGTTGGAC 0.532000 19 68 0 0 0.624587 0 0 OR6C76 390326 broad.mit.edu 37 12 55820376 55820376 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:55820376C>T ENST00000328314.3 + 1 339 c.339C>T c.(337-339)gcC>gcT p.A113A NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TCCTCCTGGCCTCTATGTCCT 0.413000 86 263 0 0 0.870114 0 0 DLGAP1 9229 broad.mit.edu 37 18 3729136 3729136 + Splice_Site SNP C C T rs56234957 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:3729136C>T ENST00000315677.3 - 7 2185 c.1591_splice c.e7+1 p.T530_splice DLGAP1_ENST00000581527.1_Splice_Site_p.T530_splice|DLGAP1_ENST00000581699.1_Splice_Site_p.T236_splice|DLGAP1_ENST00000400155.1_Splice_Site_p.T236_splice|DLGAP1_ENST00000515196.2_Splice_Site_p.T530_splice|DLGAP1_ENST00000534970.1_Splice_Site_p.T242_splice|DLGAP1_ENST00000400147.2_Splice_Site_p.T228_splice|DLGAP1_ENST00000400150.3_Splice_Site_p.T236_splice|DLGAP1_ENST00000400145.2_Splice_Site_p.T228_splice|DLGAP1_ENST00000400149.3_Splice_Site_p.T238_splice|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000539435.1_Splice_Site_p.T228_splice|DLGAP1_ENST00000584874.1_Splice_Site_p.T530_splice NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 530 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.T228T(1)|p.T530T(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGCACTCACCCGTGCTGCTCT 0.642000 3 37 0 0 0.115264 0 0 MDN1 23195 broad.mit.edu 37 6 90402372 90402372 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:90402372C>A ENST00000369393.3 - 63 10492 c.10377G>T c.(10375-10377)ttG>ttT p.L3459F MDN1_ENST00000428876.1_Missense_Mutation_p.L3459F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3459 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCACCGAGCACAAAGTGTCTG 0.587000 39 156 1.04594e-18 1.51496e-18 0.819951 1 0 MDN1 23195 broad.mit.edu 37 6 90383950 90383950 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:90383950G>A ENST00000369393.3 - 79 13235 c.13120C>T c.(13120-13122)Cgg>Tgg p.R4374W RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4374W Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4374 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCTGTTTCCGCATCCGGCAA 0.463000 21 72 0 0 0.608945 0 0 YIPF7 285525 broad.mit.edu 37 4 44626780 44626780 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:44626780C>G ENST00000332990.5 - 5 534 c.518G>C c.(517-519)gGt>gCt p.G173A NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 173 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 ATACACATAACCAAACTGAAC 0.478000 4 3 0 0 0.217242 0 0 SIGIRR 59307 broad.mit.edu 37 11 408879 408879 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:408879C>T ENST00000431843.2 - 3 328 c.22G>A c.(22-24)Gcc>Acc p.A8T SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000382520.2_Missense_Mutation_p.A8T|SIGIRR_ENST00000332725.3_Missense_Mutation_p.A8T|SIGIRR_ENST00000531205.1_Missense_Mutation_p.A8T|SIGIRR_ENST00000397632.3_Missense_Mutation_p.A8T NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 8 acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGTCAGGGGCCCTATCACAG 0.617000 14 48 0 0 0.479597 0 0 SPSB1 80176 broad.mit.edu 37 1 9416393 9416393 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:9416393G>T ENST00000328089.6 + 2 784 c.443G>T c.(442-444)cGg>cTg p.R148L SPSB1_ENST00000377399.2_Missense_Mutation_p.R148L|SPSB1_ENST00000357898.3_Missense_Mutation_p.R148L NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 148 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GGGCGCAACCGGCTCTACCAC 0.602000 25 47 1.85244e-09 2.25972e-09 0.654019 1 0 UPP1 7378 broad.mit.edu 37 7 48141563 48141563 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:48141563C>T ENST00000331803.4 + 6 928 c.305C>T c.(304-306)cCg>cTg p.P102L UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.P102L|UPP1_ENST00000395564.4_Missense_Mutation_p.P102L|UPP1_ENST00000429491.2_Intron Q16831 UPP1_HUMAN uridine phosphorylase 1 102 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 AAAGTAGGACCGGTGCTGTCT 0.572000 28 64 0 0 0.750413 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995643 140995643 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:140995643C>A ENST00000285879.4 + 4 2739 c.2453C>A c.(2452-2454)cCc>cAc p.P818H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 818 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGCTCCTTCCCCTCCTCCACT 0.552000 HNSCC(15;0.026) 106 124 1.52339e-35 2.51341e-35 0.870114 1 0 STAG1 10274 broad.mit.edu 37 3 136192475 136192475 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:136192475C>A ENST00000383202.2 - 11 1287 c.1031G>T c.(1030-1032)gGg>gTg p.G344V STAG1_ENST00000434713.2_Missense_Mutation_p.G118V|STAG1_ENST00000236698.5_Missense_Mutation_p.G344V NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 344 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 CCTGACTTCCCCTTGCTTCAG 0.348000 10 88 2.80697e-09 3.38807e-09 0.387290 1 0 TRIM39 56658 broad.mit.edu 37 6 30309588 30309588 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:30309588C>T ENST00000376659.5 + 8 1617 c.1019C>T c.(1018-1020)cCt>cTt p.P340L TRIM39_ENST00000396551.3_Missense_Mutation_p.P340L|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.P252L|TRIM39_ENST00000376656.4_Missense_Mutation_p.P370L|TRIM39_ENST00000396547.1_Missense_Mutation_p.P370L|TRIM39_ENST00000396548.1_Missense_Mutation_p.P340L|TRIM39_ENST00000540416.1_Missense_Mutation_p.P340L NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 CGGGATCTCCCTGACACACCA 0.572000 15 40 0 0 0.479597 0 0 SPATA18 132671 broad.mit.edu 37 4 52917908 52917908 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:52917908C>G ENST00000295213.4 + 1 412 c.38C>G c.(37-39)aCt>aGt p.T13S SPATA18_ENST00000419395.2_Missense_Mutation_p.T13S|SPATA18_ENST00000506829.1_3'UTR NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 13 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TCAAACGAAACTTTACGAACG 0.567000 40 236 0 0 0.840704 0 0 ZNF668 79759 broad.mit.edu 37 16 31072937 31072937 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:31072937C>A ENST00000538906.1 - 3 2096 c.1312G>T c.(1312-1314)Gtg>Ttg p.V438L ZNF668_ENST00000539836.3_Missense_Mutation_p.V461L|ZNF668_ENST00000535577.1_Missense_Mutation_p.V438L|ZNF668_ENST00000417110.2_Missense_Mutation_p.T42K|ZNF668_ENST00000426488.2_Missense_Mutation_p.V461L|ZNF668_ENST00000394983.2_Missense_Mutation_p.V438L|ZNF668_ENST00000300849.4_Missense_Mutation_p.V438L NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V438M(1)|p.V461M(1) breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TCACCTGCCACGCCCACAGGC 0.716000 26 88 4.02929e-09 4.8549e-09 0.750413 1 0 GPR108 56927 broad.mit.edu 37 19 6734313 6734313 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:6734313T>C ENST00000264080.7 - 5 406 c.380A>G c.(379-381)cAg>cGg p.Q127R GPR108_ENST00000430424.4_5'UTR NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 127 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CTTCCGCACCTGGACCCTGGG 0.637000 OREG0025092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 38 0 0 0.435327 0 0 THEMIS 387357 broad.mit.edu 37 6 128134032 128134032 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:128134032G>A ENST00000368250.1 - 5 2015 c.1517C>T c.(1516-1518)cCc>cTc p.P506L THEMIS_ENST00000537166.1_Missense_Mutation_p.P550L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P585L|THEMIS_ENST00000543064.1_Missense_Mutation_p.P585L Q8N1K5 THMS1_HUMAN thymocyte selection associated 585 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CCTTACCTTGGGAGACTTGGG 0.463000 82 276 0 0 0.870114 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283742 40283742 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:40283742C>T ENST00000325157.6 - 2 261 c.11G>A c.(10-12)aGg>aAg p.R4K NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 4 p.R4K(1) breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CACTTGTCTCCTGAACGCCAT 0.393000 19 62 0 0 0.592651 0 0 PIGA 5277 broad.mit.edu 37 X 15349561 15349561 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:15349561C>G ENST00000333590.4 - 2 576 c.492G>C c.(490-492)tcG>tcC p.S164S PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Intron NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 164 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) TTGTAAGCACCGAGCTGACAT 0.443000 24 24 0 0 0.639603 0 0 RGS7 6000 broad.mit.edu 37 1 241094032 241094032 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:241094032C>A ENST00000366565.1 - 6 751 c.370G>T c.(370-372)Gaa>Taa p.E124* RGS7_ENST00000446183.2_Nonsense_Mutation_p.E40*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E124*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E98*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 124 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTGTGTTTTCCGGCTCCCAA 0.383000 72 222 4.49761e-31 7.31527e-31 0.870114 1 0 NFXL1 152518 broad.mit.edu 37 4 47877297 47877297 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:47877297C>T ENST00000507489.1 - 18 2269 c.2093G>A c.(2092-2094)tGc>tAc p.C698Y NFXL1_ENST00000381538.3_Missense_Mutation_p.C698Y NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 698 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 ACAATGAAGGCATTCTGGGCC 0.428000 12 75 0 0 0.411799 0 0 MFSD6L 162387 broad.mit.edu 37 17 8702310 8702310 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:8702310C>A ENST00000329805.4 - 1 357 c.129G>T c.(127-129)ttG>ttT p.L43F NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 43 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 AGGGCGCGGCCAAGCCCAGCT 0.652000 18 40 1.67942e-08 1.98529e-08 0.539581 1 0 IL7R 3575 broad.mit.edu 37 5 35876247 35876247 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:35876247C>T ENST00000303115.3 + 8 1168 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 347 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGTGCAGAGCCCCAACTGCCC 0.502000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 17 52 0 0 0.520397 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780703 106780703 + RNA SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:106780703C>G ENST00000390612.2 - 0 232 GATCCAGCCCCACCAGTTACT 0.592000 36 74 0 0 0.804634 0 0 LRFN1 57622 broad.mit.edu 37 19 39798856 39798856 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:39798856C>A ENST00000248668.4 - 2 1732 c.1733G>T c.(1732-1734)cGg>cTg p.R578L NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 578 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GTGGCTGACCCGCGGGAGCGA 0.697000 6 18 0.00116845 0.00122544 0.217242 1 0 SP140L 93349 broad.mit.edu 37 2 231249970 231249970 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:231249970G>A ENST00000243810.6 + 9 735 c.735G>A c.(733-735)tcG>tcA p.S245S SP140L_ENST00000415673.2_Silent_p.S245S|SP140L_ENST00000396563.4_Silent_p.S245S|SP140L_ENST00000444636.1_Silent_p.S245S Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 245 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AGCTGGTCTCGAGTGAAAAGA 0.458000 3 55 0 0 0.150653 0 0 ZIC1 7545 broad.mit.edu 37 3 147131266 147131266 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147131266C>A ENST00000282928.4 + 3 2001 c.1272C>A c.(1270-1272)ccC>ccA p.P424P NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 424 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CCTTATCGCCCTCCTCCTCCG 0.562000 25 163 4.72057e-08 5.50467e-08 0.667858 1 0 NID2 22795 broad.mit.edu 37 14 52520339 52520339 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:52520339A>G ENST00000216286.5 - 5 1386 c.1387T>C c.(1387-1389)Tat>Cat p.Y463H NID2_ENST00000541773.1_Missense_Mutation_p.Y410H NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 463 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCCACCTCATACGTCCCTCGA 0.478000 51 155 0 0 0.870114 0 0 DUXA 503835 broad.mit.edu 37 19 57666725 57666725 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57666725G>T ENST00000554048.2 - 5 453 c.454C>A c.(454-456)Cga>Aga p.R152R NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CTAGATCTTCGATTTTGGAAC 0.383000 20 47 1.56452e-12 2.05418e-12 0.557998 1 0 CTNNA2 1496 broad.mit.edu 37 2 80831210 80831210 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:80831210C>A ENST00000466387.1 + 20 2925 c.2201C>A c.(2200-2202)cCa>cAa p.P734Q CTNNA2_ENST00000361291.4_Missense_Mutation_p.P768Q|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000599412.1_RNA|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P734Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P734Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P734Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P413Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P734Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 734 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GGCAAAGGCCCATTGAAAAAT 0.408000 12 41 1.05317e-09 1.29853e-09 0.457914 1 0 FGF23 8074 broad.mit.edu 37 12 4479648 4479648 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:4479648C>A ENST00000237837.1 - 3 762 c.617G>T c.(616-618)tGt>tTt p.C206F NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 206 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CTCCTGTGAACAGGAGGCCGG 0.706000 14 33 0.000308642 0.000329218 0.479597 1 0 PRKCG 5582 broad.mit.edu 37 19 54403966 54403966 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:54403966G>T ENST00000263431.3 + 14 1820 c.1538G>T c.(1537-1539)cGc>cTc p.R513L PRKCG_ENST00000542049.1_Missense_Mutation_p.R400L|PRKCG_ENST00000540413.1_Missense_Mutation_p.R513L NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 513 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACGACAACCCGCACCTTCTGC 0.567000 83 414 6.07207e-39 1.01152e-38 0.870114 1 0 NAA25 80018 broad.mit.edu 37 12 112491432 112491432 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:112491432A>G ENST00000261745.4 - 15 1906 c.1658T>C c.(1657-1659)cTa>cCa p.L553P NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 553 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 ATACTGACCTAGAGATTCAGC 0.358000 9 32 0 0 0.335167 0 0 MUC5B 727897 broad.mit.edu 37 11 1255445 1255445 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:1255445C>A ENST00000447027.1 + 20 2455 c.2397C>A c.(2395-2397)gcC>gcA p.A799A MUC5B_ENST00000529681.1_Silent_p.A796A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 796 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTGTGCAGCCCCCATGGTGT 0.682000 3 6 0.00024832 0.000265286 0.150653 1 0 B3GNTL1 146712 broad.mit.edu 37 17 80972342 80972342 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:80972342C>A ENST00000320865.3 - 5 409 c.396G>T c.(394-396)caG>caT p.Q132H B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR NM_001009905.1 NP_001009905.1 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 132 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TCGACGGGTGCTGAACGGCAG 0.468000 10 56 1.58986e-06 1.77281e-06 0.361761 1 0 ZNF382 84911 broad.mit.edu 37 19 37118348 37118348 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:37118348G>T ENST00000435416.1 + 3 3041 c.1546G>T c.(1546-1548)Gag>Tag p.E516* ZNF382_ENST00000439428.1_Nonsense_Mutation_p.E516*|ZNF382_ENST00000423582.1_Nonsense_Mutation_p.E468*|ZNF382_ENST00000292928.2_Nonsense_Mutation_p.E517* Q96SR6 ZN382_HUMAN zinc finger protein 382 517 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCACACAGGCGAGAAACCATA 0.423000 19 52 1.01871e-10 1.28601e-10 0.575678 1 0 TRIM55 84675 broad.mit.edu 37 8 67039550 67039550 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:67039550C>G ENST00000315962.4 + 1 420 c.47C>G c.(46-48)aCc>aGc p.T16S TRIM55_ENST00000350034.4_Missense_Mutation_p.T16S|TRIM55_ENST00000276573.7_Missense_Mutation_p.T16S|TRIM55_ENST00000353317.5_Missense_Mutation_p.T16S NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 16 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAGCAGCAGACCATGGATAAC 0.498000 41 74 0 0 0.812448 0 0 PNN 5411 broad.mit.edu 37 14 39644596 39644596 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:39644596G>T ENST00000216832.4 + 1 180 c.113_splice c.e1+1 p.R38_splice PNN_ENST00000556530.1_Splice_Site_p.R38_splice|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Splice_Site_p.R38_splice NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 38 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) AATGACGTGAGGTAAGGGCCT 0.582000 6 19 3.59834e-05 3.89254e-05 0.217242 1 0 SLC14A1 6563 broad.mit.edu 37 18 43329784 43329784 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:43329784G>A ENST00000589700.1 + 7 890 c.890G>A c.(889-891)cGc>cAc p.R297H SLC14A1_ENST00000591541.1_Silent_p.T50T|SLC14A1_ENST00000321925.4_Silent_p.T346T|SLC14A1_ENST00000502059.2_Silent_p.T238T|SLC14A1_ENST00000535474.1_Silent_p.T214T|SLC14A1_ENST00000436407.3_Silent_p.T402T|SLC14A1_ENST00000402943.2_Silent_p.T241T|SLC14A1_ENST00000415427.3_Silent_p.T402T|SLC14A1_ENST00000586142.1_Silent_p.T346T Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 0 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GTTTGGCCACGCTATTGTTCC 0.478000 48 132 0 0 0.870114 0 0 HAP1 9001 broad.mit.edu 37 17 39881020 39881020 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:39881020T>C ENST00000393939.2 - 10 1727 c.1718A>G c.(1717-1719)aAa>aGa p.K573R HAP1_ENST00000347901.4_Missense_Mutation_p.K598R|HAP1_ENST00000341193.5_Missense_Mutation_p.K581R|HAP1_ENST00000310778.5_Missense_Mutation_p.K650R|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 650 Glu-rich. P -> L (in Ref. 3; BAB13952). brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) GCACTCACCTTTCTGGAGCAT 0.602000 57 188 0 0 0.870114 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51919978 51919978 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:51919978A>G ENST00000353836.5 - 3 869 c.648T>C c.(646-648)caT>caC p.H216H SIGLEC10_ENST00000339313.5_Silent_p.H216H|SIGLEC10_ENST00000436984.2_Silent_p.H168H|SIGLEC10_ENST00000442846.3_Silent_p.H158H|SIGLEC10_ENST00000441969.3_Silent_p.H158H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Silent_p.H216H|SIGLEC10_ENST00000525998.1_Silent_p.H216H|SIGLEC10_ENST00000439889.2_Silent_p.H158H NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 216 Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGAAGTCCACATGGCAGGTGA 0.632000 12 41 0 0 0.435327 0 0 NOSIP 51070 broad.mit.edu 37 19 50063282 50063282 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:50063282C>A ENST00000391853.3 - 4 236 c.85G>T c.(85-87)Ggg>Tgg p.G29W NOSIP_ENST00000596358.1_Missense_Mutation_p.G29W|NOSIP_ENST00000339093.3_Missense_Mutation_p.G29W NM_015953.3 NP_057037.1 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 29 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) TTCTGGGTCCCATAGCCCGAG 0.607000 8 26 0.000442599 0.000470647 0.335167 1 0 RBPJL 11317 broad.mit.edu 37 20 43942234 43942234 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:43942234C>A ENST00000343694.3 + 7 818 c.746C>A c.(745-747)aCg>aAg p.T249K RBPJL_ENST00000372743.1_Missense_Mutation_p.T249K|RBPJL_ENST00000372741.3_Missense_Mutation_p.T249K NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 249 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GCTGCCTTCACGCTCCACCTG 0.562000 11 19 2.80697e-09 3.38807e-09 0.387290 1 0 FCRL4 83417 broad.mit.edu 37 1 157557067 157557067 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:157557067C>A ENST00000271532.1 - 5 981 c.847_splice c.e5+1 p.Q282_splice FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 282 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AACACTCACGCTGCACATGGA 0.532000 67 227 1.31726e-23 2.03658e-23 0.870114 1 0 ZNF37A 7587 broad.mit.edu 37 10 38406775 38406775 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:38406775A>G ENST00000351773.3 + 8 1526 c.696A>G c.(694-696)ccA>ccG p.P232P ZNF37A_ENST00000361085.4_Silent_p.P232P NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 232 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 ATCTCACTCCAATTCAGAGAA 0.338000 10 45 0 0 0.335167 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159636 242159636 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:242159636G>A ENST00000357246.3 - 4 337 c.273C>T c.(271-273)aaC>aaT p.N91N NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 91 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCAGGCTCTTGTTGTTCACCA 0.572000 41 127 0 0 0.840704 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386506 56386506 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:56386506C>T ENST00000355701.3 - 22 4997 c.4127G>A c.(4126-4128)aGa>aAa p.R1376K BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1376 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGCCAGGTCTTCGGGGCTG 0.632000 47 121 0 0 0.870114 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84610013 84610013 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:84610013C>G ENST00000344803.2 + 4 4675 c.4628C>G c.(4627-4629)cCa>cGa p.P1543R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCAGCCGTCCCAACCAGTGCT 0.527000 5 26 0 0 0.184627 0 0 DNAJC10 54431 broad.mit.edu 37 2 183594599 183594599 + Silent SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:183594599A>C ENST00000264065.6 + 8 1073 c.658A>C c.(658-660)Aga>Cga p.R220R DNAJC10_ENST00000537515.1_Silent_p.R220R NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 220 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TCATGGAGACAGATCAAAGGA 0.308000 26 106 0 0 0.769981 0 0 MDN1 23195 broad.mit.edu 37 6 90402456 90402456 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:90402456C>T ENST00000369393.3 - 63 10408 c.10293G>A c.(10291-10293)agG>agA p.R3431R MDN1_ENST00000428876.1_Silent_p.R3431R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3431 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGGTCCCCAGCCTGTCTGCAC 0.582000 29 71 0 0 0.779181 0 0 OR13C5 138799 broad.mit.edu 37 9 107360955 107360955 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:107360955A>C ENST00000374779.2 - 1 833 c.740T>G c.(739-741)gTg>gGg p.V247G NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 TGTTATCACCACAGTCAGACG 0.423000 23 77 0 0 0.608945 0 0 PRR11 55771 broad.mit.edu 37 17 57270975 57270975 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:57270975C>A ENST00000262293.4 + 5 837 c.525C>A c.(523-525)ccC>ccA p.P175P NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 175 Pro-rich. breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGCTTCCTCCCACACTGCCAC 0.552000 17 32 2.23348e-06 2.47845e-06 0.500413 1 0 HK3 3101 broad.mit.edu 37 5 176309035 176309035 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:176309035C>T ENST00000292432.5 - 16 2238 c.2147G>A c.(2146-2148)gGc>gAc p.G716D NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 716 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCAAAGGCGCCCCACTCCAT 0.632000 23 56 0 0 0.624587 0 0 PARP9 83666 broad.mit.edu 37 3 122247277 122247277 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:122247277T>C ENST00000360356.2 - 11 2726 c.2499A>G c.(2497-2499)tcA>tcG p.S833S PARP9_ENST00000477522.2_Silent_p.S798S|PARP9_ENST00000492382.1_Silent_p.S378S|PARP9_ENST00000471785.1_Silent_p.S798S NM_001146102.1|NM_031458.2 NP_001139574.1|NP_113646.2 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 833 PARP catalytic. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCATTGGTCCTGATGAGTAAT 0.453000 35 136 0 0 0.769981 0 0 TTN 7273 broad.mit.edu 37 2 179611834 179611834 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179611834G>T ENST00000360870.5 - 46 15515 c.15293C>A c.(15292-15294)cCc>cAc p.P5098H TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1206 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTCCTGGGGGTGTGGAGTA 0.522000 41 147 6.2361e-21 9.36777e-21 0.834066 1 0 NCBP2L 392517 broad.mit.edu 37 X 107037685 107037685 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:107037685T>C ENST00000372379.1 + 1 235 c.235T>C c.(235-237)Tgt>Cgt p.C79R RP5-820B18.3_ENST00000509000.1_RNA nuclear cap binding protein subunit 2-like large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 GAAAACAGCATGTGGTTTTTG 0.378000 36 28 0 0 0.788014 0 0 ATP13A3 79572 broad.mit.edu 37 3 194149640 194149640 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:194149640T>G ENST00000439040.1 - 28 3672 c.2881A>C c.(2881-2883)Agt>Cgt p.S961R ATP13A3_ENST00000256031.4_Missense_Mutation_p.S961R Q9H7F0 AT133_HUMAN ATPase type 13A3 961 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCTAGGTTACTTAAGATCTAC 0.294000 16 66 0 0 0.500413 0 0 TRHDE 29953 broad.mit.edu 37 12 72866900 72866900 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:72866900A>T ENST00000261180.4 + 5 1485 c.1389A>T c.(1387-1389)gaA>gaT p.E463D NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 463 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGCTGAAGGAAGGGTTTGCTC 0.408000 41 151 0 0 0.870114 0 0 CEP170 9859 broad.mit.edu 37 1 243349671 243349671 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:243349671T>A ENST00000366542.1 - 9 1213 c.1162A>T c.(1162-1164)Agg>Tgg p.R388W CEP170_ENST00000366544.1_Missense_Mutation_p.R388W|CEP170_ENST00000366543.1_Missense_Mutation_p.R388W NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 388 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CTACAGCGCCTGTGAGCCCCA 0.438000 59 177 0 0 0.870114 0 0 TEKT1 83659 broad.mit.edu 37 17 6718618 6718618 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:6718618G>T ENST00000338694.2 - 5 622 c.493C>A c.(493-495)Cgc>Agc p.R165S TEKT1_ENST00000535086.1_Missense_Mutation_p.R19S NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 165 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTGGCAGAGCGGTTCATCCTG 0.498000 34 72 8.4185e-14 1.13567e-13 0.760397 1 0 SLC36A2 153201 broad.mit.edu 37 5 150712872 150712872 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:150712872G>A ENST00000335244.4 - 7 885 c.756C>T c.(754-756)gaC>gaT p.D252D SLC36A2_ENST00000521967.1_Silent_p.D252D NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 252 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCGGCTGGGGTCTGGGATTT 0.438000 25 56 0 0 0.681144 0 0 SCN2A 6326 broad.mit.edu 37 2 166187857 166187857 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:166187857C>G ENST00000375437.2 + 14 2457 c.2167C>G c.(2167-2169)Cag>Gag p.Q723E SCN2A_ENST00000283256.6_Missense_Mutation_p.Q723E|SCN2A_ENST00000375427.2_Missense_Mutation_p.Q723E|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q723E NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 723 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGAATCCAGACAGAAATGCCC 0.338000 25 92 0 0 0.639603 0 0 SOX4 6659 broad.mit.edu 37 6 21596066 21596066 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:21596066T>G ENST00000244745.1 + 1 2095 c.1301T>G c.(1300-1302)tTt>tGt p.F434C SOX4_ENST00000543472.1_Missense_Mutation_p.F434C NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 434 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GACCTGGATTTTAACTTCGAG 0.607000 10 26 0 0 0.361761 0 0 MROH2B 133558 broad.mit.edu 37 5 41000408 41000408 + Nonsense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:41000408G>A ENST00000399564.4 - 39 4846 c.4396C>T c.(4396-4398)Cag>Tag p.Q1466* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q1021* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TAGAGCTCCTGGAGGCCCAAA 0.488000 13 56 0 0 0.435327 0 0 DACT1 51339 broad.mit.edu 37 14 59112685 59112685 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:59112685G>C ENST00000395153.3 + 4 1380 c.1233G>C c.(1231-1233)caG>caC p.Q411H DACT1_ENST00000541264.2_Missense_Mutation_p.Q167H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q167H|DACT1_ENST00000335867.4_Missense_Mutation_p.Q448H|DACT1_ENST00000395151.3_Missense_Mutation_p.Q167H NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 448 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CCGACCTTCAGAGTAAGCACC 0.602000 15 43 0 0 0.539581 0 0 DPPA4 55211 broad.mit.edu 37 3 109050622 109050622 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:109050622C>T ENST00000335658.6 - 4 403 c.349G>A c.(349-351)Gca>Aca p.A117T DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 117 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CGCTTATATGCATCCAATTTC 0.448000 30 158 0 0 0.750413 0 0 RBBP6 5930 broad.mit.edu 37 16 24581745 24581745 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:24581745A>C ENST00000319715.4 + 17 4166 c.3734A>C c.(3733-3735)gAa>gCa p.E1245A RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E1211A NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1245 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GTTAAACAAGAAAAAGTCAAA 0.408000 16 56 0 0 0.557998 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789565 6789565 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:6789565C>A ENST00000338569.2 - 1 721 c.624G>T c.(622-624)ttG>ttT p.L208F NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAATGGGGAGCAAGAGGAAAG 0.502000 10 34 0.00829132 0.00856521 0.361761 1 0 LRP2 4036 broad.mit.edu 37 2 170136935 170136935 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:170136935A>G ENST00000263816.3 - 11 1551 c.1266T>C c.(1264-1266)aaT>aaC p.N422N LRP2_ENST00000443831.1_Silent_p.N422N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 422 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCACTCCACGATTCTGAGACT 0.448000 17 75 0 0 0.557998 0 0 MUC16 94025 broad.mit.edu 37 19 9085606 9085606 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:9085606G>A ENST00000397910.4 - 1 6412 c.6209C>T c.(6208-6210)tCt>tTt p.S2070F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2070 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGTGCCTCAGATAAACTAGT 0.473000 67 167 0 0 0.870114 0 0 BAI3 577 broad.mit.edu 37 6 69703837 69703837 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:69703837G>T ENST00000370598.1 + 11 2733 c.1912G>T c.(1912-1914)Gca>Tca p.A638S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 638 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTACATCCCTGCATCTGATGG 0.453000 24 68 4.4004e-07 5.00409e-07 0.654019 1 0 FCRL1 115350 broad.mit.edu 37 1 157773822 157773822 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:157773822C>A ENST00000358292.3 - 3 183 c.132G>T c.(130-132)caG>caT p.Q44H FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.Q44H|FCRL1_ENST00000368176.3_Missense_Mutation_p.Q44H NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 44 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CATCTGAACTCTGTAGAAAGG 0.562000 38 149 2.32173e-10 2.91488e-10 0.804634 1 0 SAMD3 154075 broad.mit.edu 37 6 130535556 130535556 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:130535556C>G ENST00000532763.1 - 3 324 c.195G>C c.(193-195)caG>caC p.Q65H SAMD3_ENST00000457563.2_Missense_Mutation_p.Q89H|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000368134.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000324172.6_Missense_Mutation_p.Q65H Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 65 SAM. breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CTTGAGTGTTCTGCTTGTATT 0.448000 65 202 0 0 0.870114 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58287338 58287338 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:58287338C>A ENST00000249750.4 - 5 1261 c.e5-1 ALDH1A2_ENST00000559517.1_Splice_Site|ALDH1A2_ENST00000558231.1_Splice_Site|ALDH1A2_ENST00000347587.3_Splice_Site|ALDH1A2_ENST00000537372.1_Splice_Site NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TAGTCTCCATCTGAAAGAAAA 0.358000 37 108 8.73648e-17 1.22169e-16 0.796494 1 0 TRIM24 8805 broad.mit.edu 37 7 138261116 138261116 + Splice_Site SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:138261116A>T ENST00000343526.4 + 13 2229 c.e13-1 TRIM24_ENST00000415680.2_Splice_Site O15164 TIF1A_HUMAN tripartite motif containing 24 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 CCCCCTCCTCAGGACCTGTTA 0.423000 25 130 0 0 0.717897 0 0 OXTR 5021 broad.mit.edu 37 3 8809254 8809254 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:8809254G>A ENST00000316793.3 - 3 1244 c.620C>T c.(619-621)gCt>gTt p.A207V CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 207 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GATGTAGACAGCTAGCGTGAT 0.612000 17 28 0 0 0.557998 0 0 TBX5 6910 broad.mit.edu 37 12 114793739 114793739 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:114793739G>T ENST00000310346.4 - 9 1821 c.1155C>A c.(1153-1155)ccC>ccA p.P385P TBX5_ENST00000405440.2_Silent_p.P385P|TBX5_ENST00000349716.5_Silent_p.P335P NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 385 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GCTCGCTGGGGGGCGCAGAGC 0.632000 10 86 7.48243e-07 8.42539e-07 0.335167 1 0 MUC17 140453 broad.mit.edu 37 7 100675651 100675651 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:100675651G>T ENST00000306151.4 + 3 1018 c.954G>T c.(952-954)acG>acT p.T318T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 318 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T318T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTACAACGGCTGAAGGCA 0.502000 73 354 9.55688e-25 1.49435e-24 0.870114 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33577237 33577237 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:33577237C>G ENST00000504830.1 - 19 3229 c.2894G>C c.(2893-2895)cGg>cCg p.R965P ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R880P|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 965 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R965Q(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACTGCGAATCCGCACTCCACC 0.493000 HNSCC(64;0.19) 30 118 0 0 0.717897 0 0 CUX1 1523 broad.mit.edu 37 7 101892287 101892287 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:101892287G>A ENST00000360264.3 + 24 4536 c.4516G>A c.(4516-4518)Gcc>Acc p.A1506T CUX1_ENST00000549414.2_Missense_Mutation_p.A1473T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A1393T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A1495T|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A1337T|CUX1_ENST00000550008.2_Missense_Mutation_p.A1439T NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1495 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGAGAAGGCCGCCAGCCGGGA 0.726000 6 9 0 0 0.278610 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717845 142717845 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:142717845G>T ENST00000381779.4 - 2 1305 c.1080C>A c.(1078-1080)aaC>aaA p.N360K SLITRK4_ENST00000338017.4_Missense_Mutation_p.N360K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.N360K NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 360 LRRNT. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TCTCTTGGCAGTTCACACTTA 0.458000 71 67 1.34568e-36 2.2309e-36 0.870114 1 0 RBMS1 5937 broad.mit.edu 37 2 161223858 161223858 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:161223858G>A ENST00000348849.3 - 2 550 c.120C>T c.(118-120)agC>agT p.S40S RBMS1_ENST00000409972.1_Silent_p.S7S|RBMS1_ENST00000392753.3_Silent_p.S40S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.S7S|RBMS1_ENST00000409075.1_Silent_p.S7S NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 40 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) tgctggtggtgctgGGACTGG 0.537000 31 74 0 0 0.750413 0 0 TPCN2 219931 broad.mit.edu 37 11 68830381 68830381 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:68830381C>A ENST00000294309.3 + 6 677 c.576C>A c.(574-576)ccC>ccA p.P192P TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P192P NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 192 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTCTCCGTCCCTTCTTCCTGC 0.582000 56 162 6.75472e-32 1.10649e-31 0.870114 1 0 SNPH 9751 broad.mit.edu 37 20 1286353 1286353 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:1286353C>A ENST00000381867.1 + 7 1914 c.1272C>A c.(1270-1272)acC>acA p.T424T SNPH_ENST00000381873.3_Silent_p.T380T O15079 SNPH_HUMAN syntaphilin 380 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGCCCATCACCCGTGGACCCA 0.672000 13 52 0.00136819 0.00143275 0.411799 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103418843 103418843 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:103418843G>C ENST00000361246.2 - 24 3452 c.3164C>G c.(3163-3165)gCc>gGc p.A1055G NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1055 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACCCTCGCAGGCGTAGCCCTG 0.637000 3 27 0 0 0.115264 0 0 ADCY2 108 broad.mit.edu 37 5 7709444 7709444 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:7709444G>T ENST00000338316.4 + 10 1611 c.1522G>T c.(1522-1524)Gca>Tca p.A508S ADCY2_ENST00000537121.1_Missense_Mutation_p.A328S|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 508 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CAAGCCCTTTGCACACCTACA 0.602000 8 40 5.18039e-06 5.73008e-06 0.278610 1 0 TBC1D10A 83874 broad.mit.edu 37 22 30700639 30700639 + Splice_Site SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:30700639G>C ENST00000403477.3 - 2 230 c.209_splice c.e2-1 p.P71_splice TBC1D10A_ENST00000490449.1_Intron|TBC1D10A_ENST00000215790.7_Intron|TBC1D10A_ENST00000403362.1_Intron NM_001204240.1 NP_001191169.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 70 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGAGGGCAGGGCCTGTGAGAG 0.602000 8 24 0 0 0.278610 0 0 INSR 3643 broad.mit.edu 37 19 7120658 7120658 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:7120658C>A ENST00000341500.5 - 19 3635 c.3596G>T c.(3595-3597)gGg>gTg p.G1199V INSR_ENST00000302850.5_Missense_Mutation_p.G1211V NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1211 Protein kinase. 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 breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTGAAGACCCCATCCTTCAG 0.552000 14 51 0.00244969 0.0025575 0.457914 1 0 DNAH5 1767 broad.mit.edu 37 5 13692194 13692194 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:13692194G>T ENST00000265104.4 - 79 13878 c.13774C>A c.(13774-13776)Cga>Aga p.R4592R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4592 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R4592*(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGTCCGTTCGAACTGGCTTC 0.468000 Kartagener syndrome 15 89 6.31663e-08 7.31623e-08 0.479597 1 0 OR5M8 219484 broad.mit.edu 37 11 56258070 56258070 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56258070G>A ENST00000327216.2 - 1 801 c.777C>T c.(775-777)ctC>ctT p.L259L NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AGGGGGGTCTGAGATACATGA 0.413000 34 59 0 0 0.788014 0 0 PPP1R11 6992 broad.mit.edu 37 6 30035206 30035206 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:30035206G>A ENST00000376772.3 + 1 342 c.19G>A c.(19-21)Ggg>Agg p.G7R PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376773.1_Intron NM_021959.2 NP_068778.1 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 11 7 soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 GGCAGGGGCTGGGCTGAGCGA 0.612000 27 100 0 0 0.729181 0 0 CXorf22 170063 broad.mit.edu 37 X 35989850 35989850 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:35989850G>T ENST00000297866.5 + 12 2184 c.2118G>T c.(2116-2118)agG>agT p.R706S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 706 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TAACCACCAGGGGTATAGCAT 0.418000 16 32 0.00316338 0.00329758 0.479597 1 0 ZIC4 84107 broad.mit.edu 37 3 147114163 147114163 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147114163G>T ENST00000383075.3 - 3 676 c.164C>A c.(163-165)cCc>cAc p.P55H ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.P55H|ZIC4_ENST00000425731.3_Missense_Mutation_p.P93H|ZIC4_ENST00000473123.1_Missense_Mutation_p.P55H|ZIC4_ENST00000525172.2_Missense_Mutation_p.P105H NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 55 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 AGGACGGCTGGGGGAGGCCTG 0.716000 10 38 1.58986e-06 1.77281e-06 0.361761 1 0 FBN1 2200 broad.mit.edu 37 15 48714173 48714173 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:48714173T>A ENST00000316623.5 - 61 8001 c.7546A>T c.(7546-7548)Acc>Tcc p.T2516S NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2516 EGF-like 43; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGGTGTTGGGTAAATCCGGGA 0.433000 14 47 0 0 0.457914 0 0 RGS6 9628 broad.mit.edu 37 14 72961932 72961932 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:72961932G>T ENST00000553530.1 + 13 1134 c.927G>T c.(925-927)tgG>tgT p.W309C RGS6_ENST00000406236.4_Missense_Mutation_p.W309C|RGS6_ENST00000553525.1_Missense_Mutation_p.W309C|RGS6_ENST00000355512.6_Missense_Mutation_p.W309C|RGS6_ENST00000407322.4_Missense_Mutation_p.W309C|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Missense_Mutation_p.W309C|RGS6_ENST00000402788.2_Missense_Mutation_p.W309C|RGS6_ENST00000556437.1_Missense_Mutation_p.W309C|RGS6_ENST00000554782.1_Missense_Mutation_p.W170C|RGS6_ENST00000404301.2_Missense_Mutation_p.W309C|RGS6_ENST00000434263.2_Missense_Mutation_p.W240C NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 309 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCAACCCTTGGATCAGCGATG 0.433000 81 201 2.61895e-37 4.35227e-37 0.870114 1 0 OR5M3 219482 broad.mit.edu 37 11 56237592 56237592 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56237592G>T ENST00000312240.2 - 1 422 c.382C>A c.(382-384)Ctg>Atg p.L128M NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CCATAAAGCAGAGGATTCCCA 0.393000 35 114 6.33695e-27 1.00457e-26 0.834066 1 0 TTC6 319089 broad.mit.edu 37 14 38281594 38281594 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:38281594G>A ENST00000553443.1 + 25 4645 c.4645G>A c.(4645-4647)Gga>Aga p.G1549R TTC6_ENST00000267368.7_Missense_Mutation_p.G183R|TTC6_ENST00000476979.1_Missense_Mutation_p.G183R|TTC6_ENST00000382320.3_Missense_Mutation_p.G263R tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) CCTTAATCGTGGACTCATCTA 0.378000 25 106 0 0 0.654019 0 0 SARDH 1757 broad.mit.edu 37 9 136599210 136599210 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:136599210G>C ENST00000371872.4 - 2 343 c.86C>G c.(85-87)tCc>tGc p.S29C SARDH_ENST00000439388.1_Missense_Mutation_p.S29C|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.S29C NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 29 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGCTGCGCTGGACAGGTTGCA 0.697000 8 35 0 0 0.278610 0 0 TTN 7273 broad.mit.edu 37 2 179611115 179611115 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179611115G>T ENST00000360870.5 - 46 16234 c.16012C>A c.(16012-16014)Cct>Act p.P5338T TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8847 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTATGGTCAGGAGTAAATTCG 0.348000 21 89 1.01871e-10 1.28601e-10 0.575678 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33534996 33534996 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:33534996G>C ENST00000504830.1 - 23 4883 c.4548C>G c.(4546-4548)caC>caG p.H1516Q ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1431Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1516 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTCTGGGTTTGTGATCACATA 0.493000 HNSCC(64;0.19) 35 112 0 0 0.796494 0 0 SNHG14 104472715 broad.mit.edu 37 15 25324118 25324118 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:25324118G>T ENST00000549804.2 + 0 1353 GGGCTCCTTTGGGTGCCGGTG 0.483000 4 26 0.00909568 0.00932612 0.150653 1 0 DPY19L3 147991 broad.mit.edu 37 19 32899172 32899172 + Missense_Mutation SNP C C T rs143875213 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:32899172C>T ENST00000342179.5 + 2 228 c.13C>T c.(13-15)Cgg>Tgg p.R5W DPY19L3_ENST00000586987.1_Missense_Mutation_p.R5W|DPY19L3_ENST00000587077.1_Missense_Mutation_p.R5W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R5W NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 5 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) GATGTCCATCCGGCAAAGAAG 0.423000 15 56 0 0 0.479597 0 0 PHOX2A 401 broad.mit.edu 37 11 71950813 71950813 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:71950813G>T ENST00000298231.5 - 3 1006 c.835C>A c.(835-837)Ctg>Atg p.L279M NM_005169.3 NP_005160.2 O14813 PHX2A_HUMAN paired-like homeobox 2a 279 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 5 TTGGTCTTCAGGGCGGGGCCG 0.692000 4 4 0.000602214 0.000638403 0.184627 1 0 OR5H15 403274 broad.mit.edu 37 3 97887742 97887742 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:97887742G>C ENST00000356526.2 + 1 199 c.199G>C c.(199-201)Gct>Cct p.A67P NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TGGGAATTTAGCTTTTGTGGA 0.403000 64 247 0 0 0.870114 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619832 77619832 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:77619832G>A ENST00000521891.2 + 3 3090 c.2642G>A c.(2641-2643)gGt>gAt p.G881D ZFHX4_ENST00000455469.2_Intron|ZFHX4_ENST00000050961.6_Intron|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 863 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCTAATGGGTGATGACCTG 0.448000 HNSCC(33;0.089) 11 20 0 0 0.361761 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 3 0 0 0 0.115264 0 0 VPS4B 9525 broad.mit.edu 37 18 61066522 61066522 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:61066522C>T ENST00000238497.5 - 8 1028 c.825G>A c.(823-825)ctG>ctA p.L275L VPS4B_ENST00000591383.1_5'UTR NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 275 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 TTGTAGCTCCCAGAACCAAAA 0.348000 43 100 0 0 0.870114 0 0 DNAH3 55567 broad.mit.edu 37 16 21117970 21117970 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:21117970C>T ENST00000261383.3 - 15 2124 c.2125G>A c.(2125-2127)Gca>Aca p.A709T DNAH3_ENST00000415178.1_Missense_Mutation_p.A709T NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 709 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACTTTGTCTGCGATGTGGCTG 0.413000 17 75 0 0 0.557998 0 0 F5 2153 broad.mit.edu 37 1 169526028 169526028 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:169526028G>A ENST00000367796.3 - 6 1009 c.808C>T c.(808-810)Cat>Tat p.H270Y F5_ENST00000367797.3_Missense_Mutation_p.H270Y|F5_ENST00000546081.1_Missense_Mutation_p.H133Y P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 270 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCGTTGAAATGAATGGAGAAT 0.507000 16 64 0 0 0.520397 0 0 RBP4 5950 broad.mit.edu 37 10 95360467 95360467 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:95360467C>A ENST00000371467.1 - 3 524 c.205G>T c.(205-207)Ggc>Tgc p.G69C RBP4_ENST00000371464.3_Missense_Mutation_p.G69C|RBP4_ENST00000371469.2_Missense_Mutation_p.G67C|FFAR4_ENST00000604414.1_Intron P02753 RET4_HUMAN retinol binding protein 4, plasma 69 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) CTCATCTGGCCGGTCTCGTCC 0.647000 9 10 5.4927e-09 6.56073e-09 0.307466 1 0 CACNA1E 777 broad.mit.edu 37 1 181690998 181690998 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:181690998C>A ENST00000526775.1 + 16 2226 c.2061C>A c.(2059-2061)acC>acA p.T687T CACNA1E_ENST00000357570.5_Silent_p.T638T|CACNA1E_ENST00000367567.4_Silent_p.T294T|CACNA1E_ENST00000358338.5_Silent_p.T638T|CACNA1E_ENST00000367570.1_Silent_p.T687T|CACNA1E_ENST00000360108.3_Silent_p.T687T|CACNA1E_ENST00000367573.2_Silent_p.T687T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 687 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGTGCTCACCTTGTTTGGCA 0.537000 41 139 2.26627e-22 3.44955e-22 0.834066 1 0 SCN11A 11280 broad.mit.edu 37 3 38921582 38921582 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:38921582G>T ENST00000450244.1 - 19 3450 c.3252C>A c.(3250-3252)ccC>ccA p.P1084P SCN11A_ENST00000444237.2_Silent_p.P1084P|SCN11A_ENST00000456224.3_Silent_p.P1046P|SCN11A_ENST00000302328.3_Silent_p.P1084P Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1084 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.P1084P(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTGGATTTTGGGTTGGTTCT 0.338000 13 32 1.36491e-13 1.83052e-13 0.435327 1 0 TRAK1 22906 broad.mit.edu 37 3 42132991 42132991 + Silent SNP C C G rs144753843 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:42132991C>G ENST00000327628.5 + 1 430 c.30C>G c.(28-30)ccC>ccG p.P10P TRAK1_ENST00000487159.1_Intron NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 10 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TCGGGCAGCCCGTCAGGGCTC 0.537000 8 40 0 0 0.307466 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383495 118383495 + RNA SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:118383495A>T ENST00000537242.1 + 0 115 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) TGCTTTTCTGATGAAAAACCA 0.463000 23 39 0 0 0.639603 0 0 PEG3 5178 broad.mit.edu 37 19 57325540 57325540 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57325540C>G ENST00000326441.9 - 10 4633 c.4270G>C c.(4270-4272)Ggg>Cgg p.G1424R ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1424R|PEG3_ENST00000598410.1_Missense_Mutation_p.G1300R|PEG3_ENST00000593695.1_Missense_Mutation_p.G1298R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1424 4 X 5 AA repeat of P-X-G-E-A.|Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCATCTGGCCCTTCAGCCTCT 0.607000 18 72 0 0 0.750413 0 0 DLX5 1749 broad.mit.edu 37 7 96650324 96650324 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:96650324G>A ENST00000222598.4 - 3 1067 c.594C>T c.(592-594)aaC>aaT p.N198N DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 198 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCATCTCCCCGTTTTTCATGA 0.572000 17 94 0 0 0.557998 0 0 ZNF609 23060 broad.mit.edu 37 15 64967929 64967929 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:64967929C>T ENST00000326648.3 + 4 3004 c.2876C>T c.(2875-2877)tCg>tTg p.S959L NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 959 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGCAGCCCTCGGTCATCCAG 0.507000 53 146 0 0 0.870114 0 0 COL6A3 1293 broad.mit.edu 37 2 238296331 238296331 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:238296331G>T ENST00000295550.4 - 4 1658 c.1206C>A c.(1204-1206)gtC>gtA p.V402V COL6A3_ENST00000346358.4_Silent_p.V402V|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Silent_p.V196V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Silent_p.V196V|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Silent_p.V196V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 402 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAATTCCGGGACAGTAAACA 0.542000 4 21 0.00909568 0.00932612 0.150653 1 0 LOC101929735 101929735 broad.mit.edu 37 14 22925652 22925652 + RNA SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:22925652G>A ENST00000514473.2 - 0 225 TAGGTAGCAAGGTTTTTCGTA 0.458000 62 138 0 0 0.870114 0 0 IRX5 10265 broad.mit.edu 37 16 54965210 54965210 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:54965210G>A ENST00000394636.4 + 1 437 c.100G>A c.(100-102)Gat>Aat p.D34N IRX5_ENST00000320990.5_Missense_Mutation_p.D34N|IRX5_ENST00000560154.1_Missense_Mutation_p.D34N P78411 IRX5_HUMAN iroquois homeobox 5 34 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GCCCCGCACGGATGAGCTCGG 0.672000 11 22 0 0 0.387290 0 0 GTF3C1 2975 broad.mit.edu 37 16 27556684 27556684 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:27556684T>C ENST00000356183.4 - 2 397 c.382A>G c.(382-384)Aga>Gga p.R128G GTF3C1_ENST00000561623.1_Missense_Mutation_p.R128G NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 128 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GACTTGGTTCTGATGTCATTG 0.473000 66 179 0 0 0.870114 0 0 PLEC 5339 broad.mit.edu 37 8 145049407 145049407 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:145049407C>T ENST00000436759.2 - 2 168 c.131G>A c.(130-132)gGt>gAt p.G44D PLEC_ENST00000527096.1_Missense_Mutation_p.G44D NM_000445.3 NP_000436.2 Q15149 PLEC_HUMAN plectin 147 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCCAGCGCCACCCCCGCTGCG 0.657000 OREG0019050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 50 0 0 0.693898 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181115 140181115 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140181115C>A ENST00000522353.2 + 1 333 c.333C>A c.(331-333)gaC>gaA p.D111E PCDHA3_ENST00000532566.2_Missense_Mutation_p.D111E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 p.D111E(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCGTGGACAGGCCGCTGC 0.507000 55 115 1.11015e-26 1.75582e-26 0.870114 1 0 COL3A1 1281 broad.mit.edu 37 2 189870076 189870076 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:189870076G>T ENST00000304636.3 + 41 3102 c.2931_splice c.e41-1 p.G978_splice COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 978 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 NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTGTATACAGGGTGAAAGTGG 0.413000 32 150 1.45844e-13 1.95215e-13 0.769981 1 0 CFHR4 10877 broad.mit.edu 37 1 196871597 196871597 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:196871597T>C ENST00000367416.2 + 2 242 c.105T>C c.(103-105)taT>taC p.Y35Y CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Silent_p.Y36Y NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GTCTATATTATAAGAGTTTGC 0.318000 71 176 0 0 0.870114 0 0 CSHL1 1444 broad.mit.edu 37 17 61987405 61987405 + Silent SNP A A T rs2006122 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:61987405A>T ENST00000450719.3 - 3 543 c.306T>A c.(304-306)ccT>ccA p.P102P CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATGAAGAATAAGGTGAGTTCT 0.547000 5 132 0 0 0.184627 0 0 VSX1 30813 broad.mit.edu 37 20 25060074 25060074 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:25060074G>A ENST00000376709.4 - 2 764 c.501C>T c.(499-501)caC>caT p.H167H VSX1_ENST00000429762.3_Silent_p.H167H|VSX1_ENST00000424574.1_Silent_p.H167H|VSX1_ENST00000451258.1_Silent_p.H167H|VSX1_ENST00000444511.2_Silent_p.H167H|VSX1_ENST00000376707.3_Silent_p.H167H NM_014588.5 NP_055403.2 Q9NZR4 VSX1_HUMAN visual system homeobox 1 167 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2) 6 CCCTATACCTGTGCCGCCGCT 0.557000 13 29 0 0 0.411799 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634252 180634252 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:180634252G>C ENST00000410066.1 - 3 834 c.231C>G c.(229-231)agC>agG p.S77R NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 77 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TGCTGCTGGGGCTGGCCTGGG 0.607000 9 61 0 0 0.387290 0 0 HORMAD1 84072 broad.mit.edu 37 1 150689696 150689696 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:150689696C>A ENST00000368993.2 - 3 201 c.96G>T c.(94-96)agG>agT p.R32S HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R32S|HORMAD1_ENST00000361824.2_Missense_Mutation_p.R32S|HORMAD1_ENST00000368995.4_5'UTR Q86X24 HORM1_HUMAN HORMA domain containing 1 32 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CTGCTAGAAGCCTCTTCACTA 0.348000 43 146 7.70917e-36 1.27498e-35 0.870114 1 0 ATRAID 51374 broad.mit.edu 37 2 27438549 27438549 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:27438549A>G ENST00000380171.3 + 5 757 c.580A>G c.(580-582)Act>Gct p.T194A ATRAID_ENST00000606999.1_Missense_Mutation_p.T139A|ATRAID_ENST00000405489.3_Missense_Mutation_p.T81A NM_080592.3 NP_542159.3 all-trans retinoic acid-induced differentiation factor TGCCTGGAATACTATCACCTC 0.423000 55 137 0 0 0.870114 0 0 CPLX4 339302 broad.mit.edu 37 18 56985537 56985537 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:56985537A>G ENST00000299721.3 - 1 344 c.158T>C c.(157-159)aTt>aCt p.I53T CPLX4_ENST00000587244.1_Missense_Mutation_p.I53T NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 53 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) CTTCTCCTCAATCATTTGCTT 0.408000 56 148 0 0 0.870114 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526124 176526124 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:176526124G>T ENST00000367662.3 + 2 1830 c.666G>T c.(664-666)tgG>tgT p.W222C PAPPA2_ENST00000367661.3_Missense_Mutation_p.W222C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 222 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCCAACCTTGGCCCAAGCATT 0.562000 35 110 1.99505e-19 2.95818e-19 0.760397 1 0 CLIC3 9022 broad.mit.edu 37 9 139889998 139889998 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:139889998G>A ENST00000494426.1 - 3 424 c.165C>T c.(163-165)gaC>gaT p.D55D CLIC3_ENST00000480181.1_5'UTR NM_004669.2 NP_004660.2 O95833 CLIC3_HUMAN chloride intracellular channel 3 55 GST N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus protein binding|voltage-gated chloride channel activity lung(1)|skin(1) 2 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CGGGGGCGAAGTCCTTCAGCA 0.697000 13 64 0 0 0.411799 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170185 20170185 + RNA SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:20170185C>T ENST00000338912.5 - 0 86 GCTTCTTCACCTCAGCCCCAG 0.572000 24 69 0 0 0.624587 0 0 RAB34 83871 broad.mit.edu 37 17 27041920 27041920 + Splice_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:27041920T>A ENST00000395245.3 - 9 1231 c.e9-2 RAB34_ENST00000415040.2_Splice_Site|RAB34_ENST00000447716.1_Splice_Site|RAB34_ENST00000395242.2_Splice_Site|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395243.3_Splice_Site|RAB34_ENST00000436730.3_Splice_Site|RAB34_ENST00000450529.1_Splice_Site|RAB34_ENST00000301043.6_Splice_Site NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) CATTCTCACCTGACACAGAGA 0.587000 12 54 0 0 0.457914 0 0 ENPEP 2028 broad.mit.edu 37 4 111397696 111397696 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:111397696G>A ENST00000265162.5 + 1 468 c.126G>A c.(124-126)tcG>tcA p.S42S NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 42 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TGACCAGATCGTGTGACTCCA 0.612000 9 156 0 0 0.387290 0 0 NEK10 152110 broad.mit.edu 37 3 27216146 27216146 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:27216146T>C ENST00000429845.2 - 28 3046 c.2684A>G c.(2683-2685)gAg>gGg p.E895G NEK10_ENST00000383770.3_Missense_Mutation_p.E207G|NEK10_ENST00000295720.6_Missense_Mutation_p.E207G|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.E207G|NEK10_ENST00000357467.2_Missense_Mutation_p.E292G Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 895 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E895V(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGTACCTTTCTCAGCATTTTC 0.483000 41 103 0 0 0.840704 0 0 OR5L1 219437 broad.mit.edu 37 11 55579237 55579237 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55579237G>T ENST00000333973.2 + 1 384 c.295G>T c.(295-297)Gtg>Ttg p.V99L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M98_V99>IM(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) AGGGTGCATGGTGCAATTCTA 0.453000 29 250 3.78316e-11 4.85599e-11 0.819951 1 0 LOC81691 81691 broad.mit.edu 37 16 20824541 20824541 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:20824541T>C ENST00000261377.6 + 3 377 c.168T>C c.(166-168)acT>acC p.T56T ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.T56T|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000348433.6_Silent_p.T56T NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 TTTTATTTACTGACAACTGTG 0.383000 23 58 0 0 0.639603 0 0 DNAH8 1769 broad.mit.edu 37 6 38754683 38754683 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:38754683G>A ENST00000359357.3 + 16 2141 c.1887G>A c.(1885-1887)ttG>ttA p.L629L DNAH8_ENST00000441566.1_Silent_p.L629L|DNAH8_ENST00000449981.2_Silent_p.L846L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAAAGAGATTGCTAAAATTGG 0.308000 13 52 0 0 0.435327 0 0 MYO18B 84700 broad.mit.edu 37 22 26159210 26159210 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:26159210G>A ENST00000335473.7 + 3 302 c.52G>A c.(52-54)Gac>Aac p.D18N MYO18B_ENST00000407587.2_Missense_Mutation_p.D18N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D18N NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 18 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TCGGGAAGAGGACAAGAGCCC 0.542000 8 34 0 0 0.335167 0 0 SOGA3 387104 broad.mit.edu 37 6 127796902 127796902 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:127796902C>T ENST00000556132.1 - 6 3133 c.2269G>A c.(2269-2271)Gcg>Acg p.A757T SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757T NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 757 integral to membrane TTCTTGCCCGCGTCGCTCTCG 0.697000 28 90 0 0 0.717897 0 0 CACNA1E 777 broad.mit.edu 37 1 181731752 181731752 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:181731752G>A ENST00000526775.1 + 32 4756 c.4591G>A c.(4591-4593)Gtg>Atg p.V1531M CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1501M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1157M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1482M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1550M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1531M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1550M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1550 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTCATCACCGTGATTGGCAG 0.388000 10 26 0 0 0.361761 0 0 C3orf20 84077 broad.mit.edu 37 3 14755664 14755664 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:14755664C>A ENST00000253697.3 + 8 1763 c.1311C>A c.(1309-1311)acC>acA p.T437T C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Silent_p.T315T|C3orf20_ENST00000412910.1_Silent_p.T315T NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 437 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 ACCTAAAAACCAGGTAAGTGG 0.498000 18 33 9.16793e-09 1.09127e-08 0.520397 1 0 SPANXN1 494118 broad.mit.edu 37 X 144337280 144337280 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:144337280C>A ENST00000370493.3 + 2 924 c.165C>A c.(163-165)tgC>tgA p.C55* NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 55 p.C55C(2) endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TAGCGTTTTGCTACAGGAAAG 0.433000 39 32 1.42033e-22 2.17153e-22 0.796494 1 0 SARDH 1757 broad.mit.edu 37 9 136597649 136597649 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:136597649C>T ENST00000371872.4 - 3 663 c.406G>A c.(406-408)Gag>Aag p.E136K SARDH_ENST00000439388.1_Missense_Mutation_p.E136K|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000371867.1_Missense_Mutation_p.E47K|SARDH_ENST00000298628.5_Missense_Mutation_p.E136K NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 136 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TCCTCCAGCTCCCGGCTCACC 0.672000 29 139 0 0 0.769981 0 0 ZIC1 7545 broad.mit.edu 37 3 147131168 147131168 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147131168C>T ENST00000282928.4 + 3 1903 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 392 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GCAGGGCTCGCAGCCTTCGCC 0.622000 21 147 0 0 0.592651 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193309 132193309 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:132193309G>T ENST00000359827.3 - 2 1106 c.144C>A c.(142-144)gcC>gcA p.A48A PLXNA4_ENST00000423507.2_Silent_p.A48A|PLXNA4_ENST00000378539.5_Silent_p.A48A|PLXNA4_ENST00000321063.4_Silent_p.A48A Q9HCM2 PLXA4_HUMAN plexin A4 48 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGAAACCCTCGGCGGGCTCTC 0.587000 18 90 9.16793e-09 1.09127e-08 0.520397 1 0 DUSP27 92235 broad.mit.edu 37 1 167096649 167096649 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:167096649A>G ENST00000361200.2 + 6 2447 c.2281A>G c.(2281-2283)Agc>Ggc p.S761G DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S761G|DUSP27_ENST00000443333.1_Missense_Mutation_p.S761G Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 761 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 ACCAGCGGCTAGCTGCCTGGG 0.562000 16 73 0 0 0.681144 0 0 MYOG 4656 broad.mit.edu 37 1 203054660 203054660 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:203054660G>C ENST00000241651.4 - 1 504 c.430C>G c.(430-432)Cgt>Ggt p.R144G NM_002479.4 NP_002470.2 P15173 MYOG_HUMAN myogenin (myogenic factor 4) 144 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 CGGAGGTCACGCTCCTCCTGG 0.701000 15 41 0 0 0.479597 0 0 EPHB1 2047 broad.mit.edu 37 3 134825427 134825427 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:134825427C>A ENST00000398015.3 + 4 1313 c.943C>A c.(943-945)Cca>Aca p.P315T EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 315 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTTTGACCCTCCAGAAGTGGC 0.587000 17 57 5.3912e-06 5.93464e-06 0.539581 1 0 FN1 2335 broad.mit.edu 37 2 216251534 216251534 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:216251534A>C ENST00000354785.4 - 28 4859 c.4490T>G c.(4489-4491)gTg>gGg p.V1497G FN1_ENST00000323926.6_Missense_Mutation_p.V1497G|FN1_ENST00000443816.1_Missense_Mutation_p.V1406G|FN1_ENST00000421182.1_Missense_Mutation_p.V1406G|FN1_ENST00000336916.4_Missense_Mutation_p.V1406G|FN1_ENST00000446046.1_Missense_Mutation_p.V1406G|FN1_ENST00000432072.2_Missense_Mutation_p.V1497G|FN1_ENST00000359671.1_Missense_Mutation_p.V1406G|FN1_ENST00000357867.4_Missense_Mutation_p.V1406G|FN1_ENST00000357009.2_Missense_Mutation_p.V1406G|FN1_ENST00000346544.3_Missense_Mutation_p.V1406G|FN1_ENST00000345488.5_Missense_Mutation_p.V1406G|FN1_ENST00000356005.4_Missense_Mutation_p.V1406G P02751 FINC_HUMAN fibronectin 1 1496 Cell-attachment.|Fibronectin type-III 10. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAGTGGGGCACCCGATCTTC 0.542000 12 40 0 0 0.411799 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215406 140215406 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140215406G>T ENST00000525929.1 + 1 1438 c.1438G>T c.(1438-1440)Ggg>Tgg p.G480W PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G480W|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTCGGCGGGGGACGCGGA 0.672000 22 26 7.92952e-12 1.03324e-11 0.667858 1 0 OGDHL 55753 broad.mit.edu 37 10 50954889 50954889 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:50954889A>C ENST00000374103.4 - 10 1288 c.1203T>G c.(1201-1203)ttT>ttG p.F401L OGDHL_ENST00000432695.1_Missense_Mutation_p.F192L|OGDHL_ENST00000419399.1_Missense_Mutation_p.F344L NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 401 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCTGGCCAGCAAAGGCGGCGT 0.637000 10 34 0 0 0.361761 0 0 ZIC1 7545 broad.mit.edu 37 3 147130344 147130344 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:147130344G>C ENST00000282928.4 + 2 1751 c.1022G>C c.(1021-1023)cGg>cCg p.R341P NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 341 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGCTGTGACCGGCGCTTCGCT 0.532000 29 117 0 0 0.750413 0 0 PRDM5 11107 broad.mit.edu 37 4 121828688 121828688 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:121828688C>A ENST00000264808.3 - 2 358 c.118G>T c.(118-120)Gga>Tga p.G40* PRDM5_ENST00000515109.1_Nonsense_Mutation_p.G40*|PRDM5_ENST00000394435.2_Nonsense_Mutation_p.G40*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.G40* NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 40 SET. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTCTTCTCTCCAGCAAAGGGT 0.328000 45 114 3.50607e-19 5.13228e-19 0.870114 1 0 NPAP1 23742 broad.mit.edu 37 15 24921750 24921750 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:24921750G>C ENST00000329468.2 + 1 1210 c.736G>C c.(736-738)Gcc>Ccc p.A246P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACACAGCCAGGCCGGATGTGC 0.622000 16 45 0 0 0.479597 0 0 GALR1 2587 broad.mit.edu 37 18 74962794 74962794 + Missense_Mutation SNP C C A rs140216881 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:74962794C>A ENST00000299727.3 + 1 290 c.290C>A c.(289-291)gCg>gAg p.A97E NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 97 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) ACCGTGTACGCGCTGCCCACC 0.617000 28 128 1.39806e-14 1.90091e-14 0.729181 1 0 IFT80 57560 broad.mit.edu 37 3 160037641 160037641 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:160037641A>G ENST00000326448.7 - 9 1296 c.864T>C c.(862-864)tgT>tgC p.C288C RP11-432B6.3_ENST00000483754.1_Silent_p.C459C|IFT80_ENST00000496589.1_Silent_p.C151C|IFT80_ENST00000483465.1_Silent_p.C151C NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 288 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTCCATTTCCACAGGCTCCAG 0.408000 45 145 0 0 0.870114 0 0 CENPE 1062 broad.mit.edu 37 4 104062227 104062227 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:104062227A>G ENST00000265148.3 - 36 5587 c.5498T>C c.(5497-5499)aTt>aCt p.I1833T CENPE_ENST00000380026.3_Missense_Mutation_p.I1808T NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1833 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTTAACGTAATAAGTTGATG 0.279000 9 31 0 0 0.307466 0 0 TMEM44 93109 broad.mit.edu 37 3 194336360 194336360 + Nonsense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:194336360T>A ENST00000392432.2 - 8 1196 c.991A>T c.(991-993)Aga>Tga p.R331* TMEM44_ENST00000347147.4_Nonsense_Mutation_p.R284*|TMEM44_ENST00000381975.3_Nonsense_Mutation_p.R284*|TMEM44_ENST00000273580.7_Nonsense_Mutation_p.R284*|TMEM44_ENST00000473092.1_Nonsense_Mutation_p.R284* NM_001166305.1 NP_001159777.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 331 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) GGGCTCTCTCTGGCTTCCTTG 0.478000 104 390 0 0 0.870114 0 0 PCLO 27445 broad.mit.edu 37 7 82579581 82579581 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:82579581C>A ENST00000423517.2 - 6 10660 c.10323G>T c.(10321-10323)gtG>gtT p.V3441V PCLO_ENST00000437081.1_Silent_p.V161V|PCLO_ENST00000333891.8_Silent_p.V3441V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3372 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACCACTGTCCACTATCTTTT 0.433000 65 81 9.40535e-28 1.50136e-27 0.870114 1 0 PGK2 5232 broad.mit.edu 37 6 49754394 49754394 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:49754394T>C ENST00000304801.3 - 1 659 c.507A>G c.(505-507)gcA>gcG p.A169A NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 169 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GAGCGCGGTGTGCAGTGCCAA 0.453000 28 73 0 0 0.693898 0 0 MYCBP2 23077 broad.mit.edu 37 13 77633756 77633756 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:77633756G>C ENST00000407578.2 - 77 13308 c.13042C>G c.(13042-13044)Ccc>Gcc p.P4348A MYCBP2_ENST00000357337.6_Missense_Mutation_p.P4310A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P4310A NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTCGTGGTGGGTTTGCCTAGG 0.393000 27 69 0 0 0.693898 0 0 NPAP1 23742 broad.mit.edu 37 15 24922585 24922585 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:24922585C>G ENST00000329468.2 + 1 2045 c.1571C>G c.(1570-1572)cCt>cGt p.P524R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GTGGATTCCCCTCCTCCTCTT 0.547000 71 281 0 0 0.870114 0 0 NSD1 64324 broad.mit.edu 37 5 176637631 176637631 + Nonsense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:176637631C>G ENST00000439151.2 + 5 2276 c.2231C>G c.(2230-2232)tCa>tGa p.S744* NSD1_ENST00000347982.4_Nonsense_Mutation_p.S475*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S475*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S641* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 744 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAACCCCAGTCAGATTTTACA 0.438000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 25 56 0 0 0.654019 0 0 MED13 9969 broad.mit.edu 37 17 60130054 60130054 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:60130054C>T ENST00000397786.2 - 3 390 c.314G>A c.(313-315)gGa>gAa p.G105E NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 105 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.G105A(1) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTCCCACACTCCATCTTCTTC 0.338000 44 181 0 0 0.859065 0 0 IQUB 154865 broad.mit.edu 37 7 123152340 123152340 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:123152340C>A ENST00000466202.1 - 2 631 c.55G>T c.(55-57)Gag>Tag p.E19* IQUB_ENST00000434450.1_Nonsense_Mutation_p.E19*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E19*|IQUB_ENST00000488987.1_Intron Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 19 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TCATCACTCTCTTCTGTTGAA 0.348000 25 147 1.96895e-08 2.32356e-08 0.639603 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130392248 130392248 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:130392248A>G ENST00000529410.1 + 15 1699 c.1220A>G c.(1219-1221)aAc>aGc p.N407S L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N382S|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N407S|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N382S|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N382S|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N407S Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 407 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CATTTTGACAACTGGGATGAG 0.368000 64 223 0 0 0.870114 0 0 COL5A1 1289 broad.mit.edu 37 9 137653806 137653806 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:137653806G>C ENST00000371817.3 + 19 2385 c.1971G>C c.(1969-1971)ccG>ccC p.P657P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 657 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGGACCTCCGGGAGACGATG 0.597000 23 81 0 0 0.608945 0 0 LYSMD4 145748 broad.mit.edu 37 15 100269708 100269708 + Nonsense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:100269708T>A ENST00000545021.1 - 4 947 c.133A>T c.(133-135)Aag>Tag p.K45* LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.K172*|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.K171*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.K171* Q5XG99 LYSM4_HUMAN LysM, putative peptidoglycan-binding, domain containing 4 171 cell wall macromolecule catabolic process integral to membrane breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1) 10 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) TCAATCCCCTTAAAGAAGCCC 0.582000 40 103 0 0 0.804634 0 0 WDFY3 23001 broad.mit.edu 37 4 85600085 85600085 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:85600085G>A ENST00000322366.6 - 64 10490 c.10083C>T c.(10081-10083)agC>agT p.S3361S WDFY3_ENST00000295888.4_Silent_p.S3378S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3378 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTTTCAATCTGCTGTAATTCC 0.517000 40 89 0 0 0.853193 0 0 FOXA1 3169 broad.mit.edu 37 14 38061917 38061917 + Splice_Site SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:38061917C>G ENST00000250448.2 - 2 134 c.e2-1 FOXA1_ENST00000540786.1_Splice_Site|FOXA1_ENST00000545425.2_Splice_Site NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AGGAGTAGGCCTGGAGTGGAG 0.627000 12 57 0 0 0.411799 0 0 C22orf29 79680 broad.mit.edu 37 22 19839663 19839663 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:19839663G>A ENST00000405640.1 - 2 790 c.122C>T c.(121-123)cCc>cTc p.P41L C22orf29_ENST00000328554.4_Missense_Mutation_p.P41L|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P41L|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 41 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) ATCCACAAGGGGGGTGTATGC 0.617000 48 125 0 0 0.870114 0 0 CAP2 10486 broad.mit.edu 37 6 17539517 17539517 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:17539517A>G ENST00000229922.2 + 8 1186 c.654A>G c.(652-654)acA>acG p.T218T CAP2_ENST00000489374.1_Silent_p.T106T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.T154T|CAP2_ENST00000378990.2_Silent_p.T192T NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 218 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TAGCATCCACAGTATCAGCGT 0.567000 59 195 0 0 0.870114 0 0 FOXI1 2299 broad.mit.edu 37 5 169535593 169535593 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:169535593C>A ENST00000449804.2 + 2 875 c.830C>A c.(829-831)cCc>cAc p.P277H FOXI1_ENST00000306268.6_Missense_Mutation_p.P372H NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 372 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCCTCTACCCCAGGGAGGGC 0.572000 Pendred syndrome 24 75 7.38237e-10 9.15148e-10 0.706142 1 0 IGSF21 84966 broad.mit.edu 37 1 18692115 18692115 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:18692115C>G ENST00000251296.1 + 6 1322 c.939C>G c.(937-939)atC>atG p.I313M NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 313 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACCCACAGATCGACAACGAGG 0.642000 23 57 0 0 0.624587 0 0 NAV3 89795 broad.mit.edu 37 12 78444857 78444857 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78444857G>C ENST00000397909.2 + 11 2619 c.2446G>C c.(2446-2448)Gat>Cat p.D816H NAV3_ENST00000228327.6_Missense_Mutation_p.D816H|NAV3_ENST00000266692.7_Missense_Mutation_p.D816H|NAV3_ENST00000536525.2_Missense_Mutation_p.D816H Q8IVL0 NAV3_HUMAN neuron navigator 3 816 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTCTGAGGTCGATGTGGGTGG 0.493000 HNSCC(70;0.22) 12 56 0 0 0.387290 0 0 GPR155 151556 broad.mit.edu 37 2 175326175 175326175 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:175326175G>A ENST00000392552.2 - 9 1753 c.1515C>T c.(1513-1515)caC>caT p.H505H GPR155_ENST00000295500.4_Silent_p.H505H|GPR155_ENST00000392551.2_Silent_p.H505H NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 505 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 TATCTCCATTGTGTTTTCCAG 0.383000 43 137 0 0 0.870114 0 0 MED12L 116931 broad.mit.edu 37 3 151067863 151067863 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:151067863A>T ENST00000474524.1 + 15 2200 c.2162A>T c.(2161-2163)cAt>cTt p.H721L MED12L_ENST00000273432.4_Missense_Mutation_p.H581L|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 721 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTTCAAGTCATGAATGTAAC 0.433000 100 592 0 0 0.870114 0 0 FREM1 158326 broad.mit.edu 37 9 14812864 14812864 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:14812864C>G ENST00000380881.4 - 17 3657 c.2842G>C c.(2842-2844)Gat>Cat p.D948H FREM1_ENST00000422223.2_Missense_Mutation_p.D947H|FREM1_ENST00000380880.3_Missense_Mutation_p.D947H Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 947 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GAGAACTGATCCACTGTGACT 0.488000 70 147 0 0 0.870114 0 0 TBX22 50945 broad.mit.edu 37 X 79281194 79281194 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:79281194G>T ENST00000442340.1 + 5 681 c.191G>T c.(190-192)tGc>tTc p.C64F TBX22_ENST00000373296.3_Missense_Mutation_p.C184F|TBX22_ENST00000373294.5_Missense_Mutation_p.C184F|TBX22_ENST00000373291.1_Missense_Mutation_p.C64F NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 184 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.C184F(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GACTCACCCTGCTCGGGAGAG 0.488000 15 22 6.72482e-11 8.55209e-11 0.479597 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136727 40136727 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:40136727C>A ENST00000278198.2 - 2 3079 c.1116G>T c.(1114-1116)gaG>gaT p.E372D LRRC4C_ENST00000530763.1_Missense_Mutation_p.E372D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E372D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E372D Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 372 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GACATTTCAGCTCAGCTGCCA 0.517000 28 60 2.81731e-10 3.51781e-10 0.750413 1 0 ABCC9 10060 broad.mit.edu 37 12 22013989 22013989 + Splice_Site SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:22013989C>T ENST00000261200.4 - 19 2339 c.2339_splice c.e19-1 p.R780_splice ABCC9_ENST00000345162.2_Splice_Site_p.R744_splice|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Splice_Site_p.R780_splice NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 780 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGCTTTGTACCTTTGGGAGA 0.333000 23 99 0 0 0.654019 0 0 SPTA1 6708 broad.mit.edu 37 1 158636152 158636152 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:158636152C>A ENST00000368148.3 - 16 2354 c.2174G>T c.(2173-2175)cGa>cTa p.R725L SPTA1_ENST00000368147.3_Missense_Mutation_p.R725L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 725 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTTCCTGAGTCGATTCTGTAC 0.517000 10 41 2.27111e-07 2.59125e-07 0.411799 1 0 AASDHPPT 60496 broad.mit.edu 37 11 105967590 105967590 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:105967590T>C ENST00000278618.4 + 6 1108 c.886T>C c.(886-888)Tgc>Cgc p.C296R RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA NM_015423.2 NP_056238.2 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 296 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1) 17 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) GGACTGTTTTTGCTTCACAGA 0.378000 11 48 0 0 0.387290 0 0 UBXN7 26043 broad.mit.edu 37 3 196129879 196129879 + Translation_Start_Site SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:196129879C>T ENST00000535858.1 - 0 112 UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000296328.4_Missense_Mutation_p.R78H O94888 UBXN7_HUMAN UBX domain protein 7 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AATTGGGGCACGAACTTCTTC 0.318000 56 373 0 0 0.870114 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570737 20570737 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:20570737C>A ENST00000329697.6 - 3 378 c.210G>T c.(208-210)tgG>tgT p.W70C ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.W70C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.W70C|ACSM2B_ENST00000414188.2_Missense_Mutation_p.W70C NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 70 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CATTCACCCACCACAGGGCTG 0.532000 8 27 3.86212e-05 4.16479e-05 0.361761 1 0 HBE1 3046 broad.mit.edu 37 11 5290723 5290723 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:5290723C>A ENST00000380237.1 - 4 620 c.276G>T c.(274-276)ctG>ctT p.L92L HBE1_ENST00000292896.2_Silent_p.L92L|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 92 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCACAGTGCAGCTCACTCA 0.458000 33 135 6.53348e-20 9.72951e-20 0.788014 1 0 ANKRD44 91526 broad.mit.edu 37 2 197943433 197943433 + Silent SNP C C A rs146996314 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:197943433C>A ENST00000328737.2 - 16 1645 c.1569G>T c.(1567-1569)ctG>ctT p.L523L ANKRD44_ENST00000450567.1_Silent_p.L523L|ANKRD44_ENST00000337207.5_Silent_p.L523L|ANKRD44_ENST00000539527.1_Silent_p.L476L|ANKRD44_ENST00000282272.8_Silent_p.L540L|ANKRD44_ENST00000409153.1_Silent_p.L548L Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 548 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCACCAATTCCAGACACTGCC 0.418000 11 20 0.000219431 0.000235154 0.457914 1 0 CHST13 166012 broad.mit.edu 37 3 126255138 126255138 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:126255138C>A ENST00000319340.2 + 2 172 c.122C>A c.(121-123)tCc>tAc p.S41Y NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 41 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) GCCCTGGGCTCCAGCTGGCTT 0.592000 21 122 2.27525e-19 3.35917e-19 0.667858 1 0 OR2M5 127059 broad.mit.edu 37 1 248308673 248308673 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:248308673G>T ENST00000366476.1 + 1 224 c.224G>T c.(223-225)tGc>tTc p.C75F NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATGCTCATCTGCTCTACCGTA 0.488000 289 472 4.04438e-157 6.83669e-157 0.870114 1 0 ZNF630 57232 broad.mit.edu 37 X 47919477 47919477 + Translation_Start_Site SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:47919477G>C ENST00000276054.4 - 0 916 ZNF630_ENST00000409324.3_Missense_Mutation_p.I118M|ZNF630_ENST00000442455.3_Missense_Mutation_p.I104M|ZNF630-AS1_ENST00000436124.1_RNA Q2M218 ZN630_HUMAN zinc finger protein 630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 CAATATGCCAGATTTTTAAAA 0.373000 5 5 0 0 0.184627 0 0 KRT12 3859 broad.mit.edu 37 17 39022952 39022952 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:39022952T>A ENST00000251643.4 - 1 510 c.487A>T c.(487-489)Aca>Tca p.T163S NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 163 Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) GTTCCTCGTGTTTCATACCAT 0.408000 54 208 0 0 0.870114 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269234 30269234 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:30269234C>A ENST00000378981.3 + 4 945 c.624C>A c.(622-624)atC>atA p.I208I MAGEB1_ENST00000397548.2_Silent_p.I208I|MAGEB1_ENST00000397550.1_Silent_p.I208I NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 208 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 TGGGTGTGATCTTCTTAAAGG 0.493000 3 7 0.004672 0.00484087 0.115264 1 0 COL1A2 1278 broad.mit.edu 37 7 94049949 94049949 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:94049949G>T ENST00000297268.6 + 37 2755 c.2284G>T c.(2284-2286)Gct>Tct p.A762S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 762 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CGTTGGAGCTGCTGGCCCAGC 0.512000 HNSCC(75;0.22) 4 8 0.00909568 0.00932612 0.150653 1 0 TAS2R50 259296 broad.mit.edu 37 12 11139067 11139067 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:11139067C>T ENST00000506868.1 - 1 444 c.393G>A c.(391-393)gtG>gtA p.V131V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 131 sensory perception of taste integral to membrane G-protein coupled receptor activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 CCAACAGTATCACCAGAATGA 0.388000 80 256 0 0 0.870114 0 0 WDR49 151790 broad.mit.edu 37 3 167272580 167272580 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:167272580C>T ENST00000308378.3 - 6 963 c.658G>A c.(658-660)Gac>Aac p.D220N WDR49_ENST00000476376.1_Missense_Mutation_p.D45N|WDR49_ENST00000453925.2_Missense_Mutation_p.D273N|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 220 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CCATTGAAGTCCCATATCTTT 0.323000 56 219 0 0 0.870114 0 0 CALCRL 10203 broad.mit.edu 37 2 188245205 188245205 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:188245205C>T ENST00000409998.1 - 8 1178 c.397G>A c.(397-399)Gag>Aag p.E133K CALCRL_ENST00000392370.3_Missense_Mutation_p.E133K|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.E133K|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 133 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TTCACTTTCTCGTGGGTGTTA 0.338000 10 253 0 0 0.361761 0 0 MORC1 27136 broad.mit.edu 37 3 108822766 108822766 + Splice_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:108822766T>A ENST00000232603.5 - 4 237 c.e4-2 MORC1_ENST00000483760.1_Splice_Site|MORC1-AS1_ENST00000480826.1_RNA NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CATTATCCACTGTAAGAGAAA 0.398000 45 133 0 0 0.870114 0 0 IGF1R 3480 broad.mit.edu 37 15 99456390 99456390 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:99456390T>A ENST00000268035.6 + 8 2318 c.1707T>A c.(1705-1707)caT>caA p.H569Q IGF1R_ENST00000558762.1_Missense_Mutation_p.H569Q NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 569 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TCTTACTACATGGGCTGAAGC 0.582000 28 65 0 0 0.750413 0 0 DOCK3 1795 broad.mit.edu 37 3 51263131 51263131 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:51263131G>T ENST00000266037.9 + 15 1327 c.1304G>T c.(1303-1305)aGa>aTa p.R435I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 435 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GATTTCGAGAGAGGAGGAAAG 0.463000 44 74 7.53189e-24 1.1671e-23 0.834066 1 0 OR9K2 441639 broad.mit.edu 37 12 55523823 55523823 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:55523823C>A ENST00000305377.5 + 1 359 c.271C>A c.(271-273)Ctc>Atc p.L91I NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 CCTAGGCAATCTCTCCTTCAT 0.408000 68 278 2.69673e-31 4.39657e-31 0.870114 1 0 IL1RL1 9173 broad.mit.edu 37 2 102955393 102955393 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:102955393C>G ENST00000311734.2 + 3 497 c.158C>G c.(157-159)aCa>aGa p.T53R IL1RL1_ENST00000393393.3_Missense_Mutation_p.T53R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.T53R|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.T53R|IL1RL1_ENST00000473175.1_3'UTR Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 53 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TACTCACAAACAAACAAAAGT 0.418000 54 231 0 0 0.870114 0 0 KCNT1 57582 broad.mit.edu 37 9 138662904 138662904 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:138662904G>T ENST00000298480.5 + 18 2045 c.1971G>T c.(1969-1971)ccG>ccT p.P657P KCNT1_ENST00000487664.1_Silent_p.P612P|KCNT1_ENST00000486577.2_Silent_p.P618P|KCNT1_ENST00000488444.2_Silent_p.P638P|KCNT1_ENST00000491806.2_Silent_p.P624P|KCNT1_ENST00000371757.2_Silent_p.P657P|KCNT1_ENST00000263604.3_Silent_p.P638P|KCNT1_ENST00000490355.2_Silent_p.P638P B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 657 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACGAGGGTCCGGCCCGCCTGC 0.662000 3 16 0.115264 0.116964 0.115264 1 0 TYK2 7297 broad.mit.edu 37 19 10464800 10464800 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:10464800C>A ENST00000525621.1 - 20 3307 c.2826G>T c.(2824-2826)tcG>tcT p.S942S TYK2_ENST00000524462.1_Silent_p.S757S|TYK2_ENST00000264818.6_Silent_p.S942S NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 942 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCTTCCAGCCCGAGCGGTGCT 0.627000 34 128 1.22384e-17 1.73608e-17 0.769981 1 0 MCC 4163 broad.mit.edu 37 5 112384928 112384928 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:112384928C>A ENST00000302475.4 - 14 2510 c.1947G>T c.(1945-1947)aaG>aaT p.K649N MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.K586N|MCC_ENST00000408903.3_Missense_Mutation_p.K839N NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 649 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GCGTGCTCAGCTTCAGCTCCA 0.597000 14 29 4.93089e-13 6.52395e-13 0.457914 1 0 SLC30A3 7781 broad.mit.edu 37 2 27480193 27480193 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:27480193C>G ENST00000233535.4 - 5 958 c.606G>C c.(604-606)ggG>ggC p.G202G SLC30A3_ENST00000447008.2_Silent_p.G197G NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 202 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGGGGGGGCCCAGCCTGGT 0.662000 8 17 0 0 0.335167 0 0 THSD7A 221981 broad.mit.edu 37 7 11416278 11416278 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:11416278C>G ENST00000423059.3 - 27 5059 c.4808G>C c.(4807-4809)aGa>aCa p.R1603T AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1603 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGTCTTTAGTCTCCCATCTAA 0.353000 HNSCC(18;0.044) 4 8 0 0 0.150653 0 0 BAI1 575 broad.mit.edu 37 8 143623649 143623649 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:143623649A>T ENST00000517894.1 + 28 4948 c.4054A>T c.(4054-4056)Acg>Tcg p.T1352S BAI1_ENST00000323289.5_Missense_Mutation_p.T1352S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1352 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCCCACGGCCACGGCCACGCT 0.652000 20 23 0 0 0.557998 0 0 KCNH6 81033 broad.mit.edu 37 17 61623183 61623183 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:61623183C>A ENST00000583023.1 + 14 2916 c.2905C>A c.(2905-2907)Cac>Aac p.H969N KCNH6_ENST00000314672.5_Missense_Mutation_p.H933N|KCNH6_ENST00000581784.1_Missense_Mutation_p.H880N|KCNH6_ENST00000456941.2_Missense_Mutation_p.H880N NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 969 regulation of transcription, DNA-dependent|signal transduction p.H969N(2) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CCTCCCTGAACACCTTGGCTC 0.567000 38 130 6.99958e-10 8.69262e-10 0.827153 1 0 OR10G8 219869 broad.mit.edu 37 11 123900787 123900787 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:123900787T>A ENST00000431524.1 + 1 491 c.458T>A c.(457-459)cTg>cAg p.L153Q NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGTGGCTCTCTGCACTCTGCT 0.552000 51 115 0 0 0.870114 0 0 UGT3A1 133688 broad.mit.edu 37 5 35988630 35988630 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:35988630C>A ENST00000274278.3 - 2 475 c.118G>T c.(118-120)Gac>Tac p.D40Y UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D40Y|UGT3A1_ENST00000333811.4_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 40 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACACCCGGTCCAACAGTAGG 0.388000 14 64 0.0285812 0.0292182 0.500413 1 0 SMIM21 284274 broad.mit.edu 37 18 73130849 73130849 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:73130849C>T ENST00000584508.1 - 2 270 c.152G>A c.(151-153)cGt>cAt p.R51H RP11-321M21.3_ENST00000578340.1_3'UTR|SMIM21_ENST00000579022.1_Missense_Mutation_p.R51H|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_3'UTR small integral membrane protein 21 p.R51P(1) TGTGAAGAAACGAATATGGTG 0.383000 32 87 0 0 0.740014 0 0 LRP1B 53353 broad.mit.edu 37 2 141460116 141460116 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:141460116C>A ENST00000389484.3 - 38 7001 c.6030G>T c.(6028-6030)ttG>ttT p.L2010F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2010 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTCCAGAACAAGAGGCTGA 0.398000 TSP Lung(27;0.18) 18 80 2.37509e-13 3.16679e-13 0.592651 1 0 ANO5 203859 broad.mit.edu 37 11 22294481 22294481 + Silent SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:22294481A>T ENST00000324559.8 + 19 2498 c.2181A>T c.(2179-2181)atA>atT p.I727I ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 727 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTCATAGCATAGGTGTTTGGC 0.403000 42 144 0 0 0.853193 0 0 STXBP5 134957 broad.mit.edu 37 6 147655334 147655334 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:147655334G>A ENST00000367481.3 + 19 2230 c.2122G>A c.(2122-2124)Gat>Aat p.D708N STXBP5_ENST00000321680.6_Missense_Mutation_p.D708N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D379N|STXBP5_ENST00000367480.3_Missense_Mutation_p.D708N NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 708 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TGTTCCAGAGGATCGCTGCAA 0.328000 26 76 0 0 0.729181 0 0 VSIG2 23584 broad.mit.edu 37 11 124617497 124617497 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:124617497G>A ENST00000326621.5 - 7 1018 c.918C>T c.(916-918)ttC>ttT p.F306F NRGN_ENST00000526916.2_3'UTR NM_014312.3 NP_055127.2 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 306 integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GTCTTTCCAGGAACCCCTTGC 0.562000 6 66 0 0 0.217242 0 0 SLC5A5 6528 broad.mit.edu 37 19 17994720 17994720 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17994720C>T ENST00000222248.3 + 12 1738 c.1391C>T c.(1390-1392)aCg>aTg p.T464M NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 464 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TTGGGCGCCACGCTGTACCCA 0.721000 5 2 0 0 0.184627 0 0 PDHA2 5161 broad.mit.edu 37 4 96761292 96761292 + Translation_Start_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:96761292C>A ENST00000295266.4 + 0 54 NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TACAGCACTCCGTGAAGAATA 0.622000 7 14 1.06961e-07 1.23265e-07 0.278610 1 0 LAMA1 284217 broad.mit.edu 37 18 7079977 7079977 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:7079977T>A ENST00000389658.3 - 3 435 c.342A>T c.(340-342)agA>agT p.R114S RP11-76K13.3_ENST00000581502.1_RNA NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 114 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCTACCTGTCTTAAGTCCA 0.468000 13 49 0 0 0.479597 0 0 GALNT3 2591 broad.mit.edu 37 2 166606398 166606398 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:166606398C>T ENST00000392701.3 - 10 2408 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 545 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E545K(1) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 GCAGAGTATTCAAAGTACTAT 0.383000 33 130 0 0 0.779181 0 0 CHN2 1124 broad.mit.edu 37 7 29539573 29539573 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:29539573G>T ENST00000222792.6 + 9 1360 c.830G>T c.(829-831)tGt>tTt p.C277F CHN2_ENST00000539406.1_Missense_Mutation_p.C352F|CHN2_ENST00000495789.2_Missense_Mutation_p.C290F|CHN2_ENST00000424025.2_Missense_Mutation_p.C96F|CHN2_ENST00000409041.4_Missense_Mutation_p.C141F|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.C141F|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.C262F|CHN2_ENST00000539389.1_Missense_Mutation_p.C133F NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 277 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 GTGTACTGTTGTGACCTCACA 0.443000 13 46 2.27111e-07 2.59125e-07 0.411799 1 0 SMOC2 64094 broad.mit.edu 37 6 169064781 169064781 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:169064781C>T ENST00000354536.5 + 12 1566 c.1346C>T c.(1345-1347)tCt>tTt p.S449F SMOC2_ENST00000356284.2_Missense_Mutation_p.S438F|SMOC2_ENST00000477998.1_3'UTR NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 438 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) GAAAGTACGTCTAATAGACAG 0.294000 18 55 0 0 0.624587 0 0 HCN4 10021 broad.mit.edu 37 15 73659940 73659940 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:73659940G>A ENST00000261917.3 - 1 1665 c.672C>T c.(670-672)ccC>ccT p.P224P NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 224 Involved in subunit assembly (By similarity). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGTTGACCCCGGGTTGGAGCA 0.652000 15 53 0 0 0.520397 0 0 ABCG8 64241 broad.mit.edu 37 2 44079562 44079562 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:44079562C>T ENST00000272286.2 + 5 721 c.631C>T c.(631-633)Cgg>Tgg p.R211W NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 211 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CATGTACGTGCGGGGGTTGTC 0.667000 19 44 0 0 0.557998 0 0 SESTD1 91404 broad.mit.edu 37 2 180014079 180014079 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:180014079C>G ENST00000428443.3 - 7 842 c.526G>C c.(526-528)Gaa>Caa p.E176Q NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 176 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding p.E176K(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AAAGCAAGTTCATCTAATAAT 0.289000 13 34 0 0 0.435327 0 0 TRPC1 7220 broad.mit.edu 37 3 142522827 142522827 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:142522827G>T ENST00000273482.6 + 10 2055 c.1664G>T c.(1663-1665)gGc>gTc p.G555V TRPC1_ENST00000476941.1_Missense_Mutation_p.G589V NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 589 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 AGGTTCATTGGCACCTGCTTT 0.328000 22 108 1.10923e-09 1.36521e-09 0.639603 1 0 NEK10 152110 broad.mit.edu 37 3 27233635 27233635 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:27233635G>C ENST00000429845.2 - 27 2752 c.2390C>G c.(2389-2391)tCc>tGc p.S797C NEK10_ENST00000383770.3_Missense_Mutation_p.S109C|NEK10_ENST00000295720.6_Missense_Mutation_p.S109C|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.S109C|NEK10_ENST00000357467.2_Missense_Mutation_p.S194C Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 797 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGACAACTGGGATGTAGATAA 0.448000 32 73 0 0 0.750413 0 0 PAPPA 5069 broad.mit.edu 37 9 118950444 118950444 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:118950444C>G ENST00000328252.3 + 2 1796 c.1427C>G c.(1426-1428)cCt>cGt p.P476R NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 476 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGCTGTGACCCTGAAATCACC 0.507000 13 44 0 0 0.411799 0 0 BICD1 636 broad.mit.edu 37 12 32480467 32480467 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:32480467G>T ENST00000548411.1 + 5 1259 c.1078G>T c.(1078-1080)Gca>Tca p.A360S BICD1_ENST00000281474.5_Missense_Mutation_p.A360S NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 360 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CACCAAGGGGGCACTGACGGA 0.562000 28 58 1.16021e-09 1.4254e-09 0.717897 1 0 SPHKAP 80309 broad.mit.edu 37 2 228882377 228882377 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:228882377G>T ENST00000392056.3 - 7 3239 c.3193C>A c.(3193-3195)Ccc>Acc p.P1065T SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1065T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1065 cytoplasm protein binding p.P1065T(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGATTCCGGGGATAGCCCTGC 0.562000 25 45 3.73808e-20 5.59087e-20 0.693898 1 0 ZNF440 126070 broad.mit.edu 37 19 11942380 11942380 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:11942380G>C ENST00000304060.5 + 4 553 c.389G>C c.(388-390)gGa>gCa p.G130A NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGTGACATTGGACACAAGGCA 0.403000 21 216 0 0 0.870114 0 0 ZNF677 342926 broad.mit.edu 37 19 53740380 53740380 + Nonsense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:53740380G>A ENST00000333952.4 - 5 1765 c.1600C>T c.(1600-1602)Cag>Tag p.Q534* ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q534* Q86XU0 ZN677_HUMAN zinc finger protein 677 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGTATTTTCTGGTGTCTAGTG 0.318000 23 87 0 0 0.624587 0 0 CNTN5 53942 broad.mit.edu 37 11 99827584 99827584 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:99827584G>T ENST00000524871.1 + 8 1010 c.720G>T c.(718-720)gcG>gcT p.A240A CNTN5_ENST00000528682.1_Silent_p.A240A|CNTN5_ENST00000279463.3_Silent_p.A240A|CNTN5_ENST00000418526.2_Silent_p.A166A|CNTN5_ENST00000527185.1_Silent_p.A240A NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 240 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCTTTGTGGCGGAAGACAGCC 0.393000 17 50 4.96729e-08 5.76306e-08 0.575678 1 0 GPR133 283383 broad.mit.edu 37 12 131620641 131620641 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:131620641G>A ENST00000261654.5 + 22 2886 c.2327G>A c.(2326-2328)gGc>gAc p.G776D GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Missense_Mutation_p.G808D|GPR133_ENST00000376682.4_Missense_Mutation_p.G462D|GPR133_ENST00000543617.1_Missense_Mutation_p.G295D NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 776 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGGGTCTTTGGCGTGCTTGCT 0.617000 10 48 0 0 0.361761 0 0 NUP54 53371 broad.mit.edu 37 4 77053715 77053715 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:77053715G>T ENST00000264883.3 - 6 1008 c.868C>A c.(868-870)Cct>Act p.P290T NUP54_ENST00000458189.2_Missense_Mutation_p.P110T|NUP54_ENST00000342467.6_Missense_Mutation_p.P110T|NUP54_ENST00000514987.1_Missense_Mutation_p.P242T NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 290 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 ATCTGTGCAGGAGAAAGTTCT 0.383000 9 224 1.61879e-10 2.03607e-10 0.411799 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995492 140995492 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:140995492G>C ENST00000285879.4 + 4 2588 c.2302G>C c.(2302-2304)Gag>Cag p.E768Q MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 768 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GAGTCCTCCTGAGGGGCCTGC 0.537000 HNSCC(15;0.026) 98 122 0 0 0.870114 0 0 A1BG 1 broad.mit.edu 37 19 58862906 58862906 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:58862906C>T ENST00000263100.3 - 5 822 c.761G>A c.(760-762)aGg>aAg p.R254K A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 254 Ig-like V-type 3. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GGTGCTGCTCCTGGGTACCAG 0.627000 11 50 0 0 0.387290 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994309 140994309 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:140994309C>A ENST00000285879.4 + 4 1405 c.1119C>A c.(1117-1119)ctC>ctA p.L373L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 373 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTCCTCTCCAGATTCCTG 0.478000 HNSCC(15;0.026) 90 104 7.49063e-41 1.25391e-40 0.870114 1 0 DPP6 1804 broad.mit.edu 37 7 154681206 154681206 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:154681206A>G ENST00000404039.1 + 25 2812 c.2225A>G c.(2224-2226)cAa>cGa p.Q742R DPP6_ENST00000377770.3_Missense_Mutation_p.Q806R|DPP6_ENST00000332007.3_Missense_Mutation_p.Q744R|DPP6_ENST00000427557.1_Missense_Mutation_p.Q699R NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 806 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTCATTACACAACTAATTAGG 0.378000 9 15 0 0 0.335167 0 0 ZAP70 7535 broad.mit.edu 37 2 98340653 98340653 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:98340653C>T ENST00000264972.5 + 3 369 c.154C>T c.(154-156)Cac>Tac p.H52Y NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 52 SH2 1. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GTCGCTCGTGCACGATGTGCG 0.677000 8 8 0 0 0.278610 0 0 DNAH3 55567 broad.mit.edu 37 16 21038393 21038393 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:21038393G>A ENST00000261383.3 - 38 5495 c.5496C>T c.(5494-5496)ttC>ttT p.F1832F DNAH3_ENST00000415178.1_Silent_p.F1832F NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1832 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGGCGGGCTCGAAGATCAGGC 0.572000 10 40 0 0 0.361761 0 0 KIF6 221458 broad.mit.edu 37 6 39353414 39353414 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:39353414T>C ENST00000287152.7 - 16 1939 c.1845A>G c.(1843-1845)atA>atG p.I615M KIF6_ENST00000229913.5_Missense_Mutation_p.I66M|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000538893.1_Missense_Mutation_p.I559M|KIF6_ENST00000373216.3_Missense_Mutation_p.I615M|KIF6_ENST00000373213.4_Missense_Mutation_p.I454M|KIF6_ENST00000541946.1_Missense_Mutation_p.I66M|KIF6_ENST00000394362.1_Missense_Mutation_p.I66M NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 615 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTACTTGCTGTATATGCCGCT 0.448000 15 74 0 0 0.500413 0 0 POT1 25913 broad.mit.edu 37 7 124499083 124499083 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:124499083G>A ENST00000357628.3 - 9 1228 c.630C>T c.(628-630)atC>atT p.I210I POT1_ENST00000393329.1_Silent_p.I79I NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 210 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 GTAGCCGATGGATGTGACTTA 0.393000 60 59 0 0 0.870114 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431893 56431893 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56431893C>A ENST00000302969.2 + 1 756 c.732C>A c.(730-732)caC>caA p.H244Q NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GCGGGTCTCACCTTACTGGCA 0.498000 40 92 1.30091e-30 2.10594e-30 0.827153 1 0 IRX1 79192 broad.mit.edu 37 5 3600253 3600253 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:3600253C>T ENST00000302006.3 + 2 1243 c.1191C>T c.(1189-1191)ccC>ccT p.P397P CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 397 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TTGGCGCTCCCCACGCCGCGC 0.667000 11 42 0 0 0.387290 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986470 51986470 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:51986470G>A ENST00000396477.4 + 4 894 c.873G>A c.(871-873)atG>atA p.M291I CEACAM18_ENST00000451626.1_Missense_Mutation_p.M352I NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 352 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGGAGCAGATGGGCCGTTACC 0.557000 35 93 0 0 0.760397 0 0 MBD5 55777 broad.mit.edu 37 2 149226486 149226486 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:149226486G>T ENST00000407073.1 + 9 1971 c.974G>T c.(973-975)cGa>cTa p.R325L MBD5_ENST00000404807.1_Missense_Mutation_p.R325L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 325 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GAAATACCACGAGCAATGTTC 0.433000 23 59 2.89027e-11 3.72379e-11 0.624587 1 0 ROBO4 54538 broad.mit.edu 37 11 124761626 124761626 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:124761626G>C ENST00000306534.3 - 11 2105 c.1620C>G c.(1618-1620)agC>agG p.S540R RP11-664I21.6_ENST00000524433.1_Intron|ROBO4_ENST00000533054.1_Missense_Mutation_p.S395R NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 540 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGCTGCTGCTGCTGCTCAGGT 0.662000 12 20 0 0 0.457914 0 0 LPO 4025 broad.mit.edu 37 17 56344747 56344747 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:56344747G>A ENST00000262290.4 + 12 2047 c.1731G>A c.(1729-1731)caG>caA p.Q577Q LPO_ENST00000582328.1_Silent_p.Q494Q|LPO_ENST00000421678.2_Silent_p.Q494Q|LPO_ENST00000543544.1_Silent_p.Q518Q NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 577 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 ACCTCTCACAGCCGCAGACAC 0.552000 16 60 0 0 0.539581 0 0 FAM196A 642938 broad.mit.edu 37 10 128974171 128974171 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:128974171G>C ENST00000522781.1 - 4 1044 c.489C>G c.(487-489)ggC>ggG p.G163G FAM196A_ENST00000424811.2_Silent_p.G163G|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 163 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CCCGCCCCGCGCCACATGGCC 0.552000 22 53 0 0 0.639603 0 0 SPTBN1 6711 broad.mit.edu 37 2 54753686 54753686 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:54753686G>T ENST00000356805.4 + 2 412 c.131G>T c.(130-132)cGc>cTc p.R44L AC092839.3_ENST00000433475.1_RNA NM_003128.2 NP_003119.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 44 Actin-binding. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GAGCGGTCCCGCATCAAGGCT 0.537000 16 42 4.7546e-09 5.6989e-09 0.500413 1 0 TRAT1 50852 broad.mit.edu 37 3 108557809 108557809 + Missense_Mutation SNP C C A rs150919761 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:108557809C>A ENST00000295756.6 + 3 377 c.147C>A c.(145-147)caC>caA p.H49Q TRAT1_ENST00000426646.1_Missense_Mutation_p.H12Q|TRAT1_ENST00000493604.1_3'UTR NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 49 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 CCAGTGACCACACCAGGTATG 0.318000 18 119 6.33239e-15 8.64421e-15 0.592651 1 0 OR2C3 81472 broad.mit.edu 37 1 247695329 247695329 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:247695329G>T ENST00000366487.3 - 2 846 c.485C>A c.(484-486)aCg>aAg p.T162K GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CATGGTGAGCGTGGAGCCCAC 0.557000 4 24 1.024e-07 1.18405e-07 0.184627 1 0 ZNF286B 729288 broad.mit.edu 37 17 18566461 18566461 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:18566461T>A ENST00000545289.1 - 5 608 c.358A>T c.(358-360)Agc>Tgc p.S120C NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GAATCCTTGCTCTGTGGTCTA 0.388000 27 45 0 0 0.750413 0 0 KMT2C 58508 broad.mit.edu 37 7 151879345 151879345 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:151879345C>G ENST00000355193.2 - 36 5818 c.5600G>C c.(5599-5601)aGt>aCt p.S1867T KMT2C_ENST00000262189.6_Missense_Mutation_p.S1867T lysine (K)-specific methyltransferase 2C CTGAGAAAGACTATCCTGGAT 0.522000 27 193 0 0 0.681144 0 0 DLC1 10395 broad.mit.edu 37 8 13357323 13357323 + Silent SNP G G A rs146650078 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:13357323G>A ENST00000276297.4 - 2 667 c.258C>T c.(256-258)gaC>gaT p.D86D DLC1_ENST00000511869.1_Silent_p.D86D|DLC1_ENST00000316609.5_Silent_p.D86D NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 86 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.D86D(3) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TGTCATTTTCGTCCACATCCT 0.443000 9 362 0 0 0.335167 0 0 ZNF460 10794 broad.mit.edu 37 19 57802666 57802666 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57802666G>A ENST00000360338.3 + 3 1079 c.757G>A c.(757-759)Gtg>Atg p.V253M ZNF460_ENST00000537645.1_Missense_Mutation_p.V212M NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAAGCCCTTTGTGTGCAGTGA 0.542000 30 84 0 0 0.740014 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641586 106641586 + RNA SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:106641586T>A ENST00000390605.2 - 0 386 TACACGGCCGTGTCGTCAGAT 0.537000 75 262 0 0 0.870114 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004401 75004401 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:75004401G>T ENST00000373359.2 - 1 678 c.486C>A c.(484-486)ttC>ttA p.F162L NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 162 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGGTGATCTGGAAACCCCGTT 0.527000 10 12 5.16669e-11 6.59495e-11 0.387290 1 0 DNAH12 201625 broad.mit.edu 37 3 57496556 57496556 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:57496556C>T ENST00000351747.2 - 5 610 c.430G>A c.(430-432)Gtg>Atg p.V144M DNAH12_ENST00000389536.4_Missense_Mutation_p.V144M|DNAH12_ENST00000311202.6_Missense_Mutation_p.V144M NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 144 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 TCACTTGACACCTCATTTATG 0.438000 17 52 0 0 0.520397 0 0 TSC22D2 9819 broad.mit.edu 37 3 150128674 150128674 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:150128674G>T ENST00000361875.2 + 1 2553 c.1537G>T c.(1537-1539)Gtg>Ttg p.V513L TSC22D2_ENST00000361136.2_Missense_Mutation_p.V513L NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 513 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCCTGCAGCCGTGCCCGCTCC 0.647000 8 55 2.17888e-05 2.3682e-05 0.335167 1 0 IREB2 3658 broad.mit.edu 37 15 78780136 78780136 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:78780136G>T ENST00000258886.8 + 14 1920 c.1771G>T c.(1771-1773)Gca>Tca p.A591S NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 591 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) CTTATCAGACGCAGTTTTAAA 0.313000 16 86 4.96729e-08 5.76306e-08 0.575678 1 0 NCF4 4689 broad.mit.edu 37 22 37273817 37273817 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:37273817G>C ENST00000248899.6 + 10 1156 c.972G>C c.(970-972)ctG>ctC p.L324L NCF4_ENST00000397147.4_3'UTR NM_000631.4 NP_000622.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 324 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CCTGGAAGCTGCACATCACGC 0.607000 7 17 0 0 0.248553 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296541 145296541 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:145296541G>C ENST00000342960.5 + 3 498 c.463G>C c.(463-465)Gca>Cca p.A155P NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 155 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GTGTAGACTGGCACAGCACCT 0.577000 44 331 0 0 0.870114 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254946 30254946 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:30254946C>G ENST00000361644.2 + 5 1642 c.905C>G c.(904-906)gCg>gGg p.A302G MAGEB3_ENST00000378986.1_Missense_Mutation_p.A302G NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 302 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 GTCCCCAGTGCGTTCCAGTTC 0.502000 22 18 0 0 0.639603 0 0 SLTM 79811 broad.mit.edu 37 15 59182658 59182658 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:59182658C>T ENST00000380516.2 - 15 1988 c.1901G>A c.(1900-1902)cGa>cAa p.R634Q AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.R203Q NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 634 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AATCTCTCTTCGTCTACCAAA 0.403000 34 128 0 0 0.769981 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623117 21623117 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:21623117C>A ENST00000304418.3 - 1 1105 c.1068G>T c.(1066-1068)tgG>tgT p.W356C NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 356 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TTTTCCTACCCCAAACCTTTA 0.428000 15 95 4.7546e-09 5.6989e-09 0.500413 1 0 GYS2 2998 broad.mit.edu 37 12 21721901 21721901 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:21721901G>C ENST00000261195.2 - 5 975 c.721C>G c.(721-723)Cgg>Ggg p.R241G NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 241 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATGCAGTACCGGTGGTAAATC 0.433000 24 112 0 0 0.667858 0 0 ENPP7 339221 broad.mit.edu 37 17 77709217 77709217 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:77709217C>A ENST00000328313.5 + 3 996 c.775C>A c.(775-777)Ctg>Atg p.L259M NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 259 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCTGGCGACCTGGTTGAATT 0.587000 16 86 1.5739e-10 1.98323e-10 0.500413 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84608996 84608996 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:84608996T>C ENST00000344803.2 + 4 3658 c.3611T>C c.(3610-3612)aTg>aCg p.M1204T NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AAAAATCAGATGTTGAGCCAG 0.393000 25 98 0 0 0.681144 0 0 NAMPT 10135 broad.mit.edu 37 7 105909600 105909600 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:105909600C>A ENST00000222553.3 - 5 913 c.606_splice c.e5+1 p.E202_splice NAMPT_ENST00000484527.1_Intron|NAMPT_ENST00000354289.4_Splice_Site_p.E202_splice NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 202 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 AGTTACTTACCTCTTGGGAAG 0.358000 55 67 3.93605e-18 5.65346e-18 0.870114 1 0 ANKRD17 26057 broad.mit.edu 37 4 73968234 73968234 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:73968234C>T ENST00000358602.4 - 25 4548 c.4432G>A c.(4432-4434)Gct>Act p.A1478T ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1227T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1365T NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1478 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) cttttcGCAGCCAAAGCCAGC 0.348000 11 41 0 0 0.387290 0 0 SPATA31A7 26165 broad.mit.edu 37 9 65506460 65506460 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:65506460G>A ENST00000355045.2 - 4 1128 c.1100C>T c.(1099-1101)gCt>gTt p.A367V NM_015667.2 NP_056482.2 SPATA31 subfamily A, member 7 CAATGATTTAGCCAAATTCCG 0.433000 79 214 0 0 0.870114 0 0 NAV3 89795 broad.mit.edu 37 12 78562633 78562633 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78562633C>A ENST00000397909.2 + 24 5141 c.4968C>A c.(4966-4968)gaC>gaA p.D1656E NAV3_ENST00000228327.6_Missense_Mutation_p.D1656E|NAV3_ENST00000266692.7_Missense_Mutation_p.D1479E|NAV3_ENST00000536525.2_Missense_Mutation_p.D1656E Q8IVL0 NAV3_HUMAN neuron navigator 3 1656 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATGGTCCAGACCATCCTCCCA 0.378000 HNSCC(70;0.22) 27 109 6.32553e-13 8.3531e-13 0.681144 1 0 WBSCR17 64409 broad.mit.edu 37 7 70881051 70881051 + Splice_Site SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:70881051T>C ENST00000333538.5 + 4 1398 c.e4+2 WBSCR17_ENST00000498380.2_Splice_Site NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CGCTGGCTGGTAGGTCATGAG 0.582000 8 78 0 0 0.278610 0 0 C5 727 broad.mit.edu 37 9 123776180 123776180 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:123776180G>C ENST00000223642.1 - 17 2257 c.2228C>G c.(2227-2229)tCt>tGt p.S743C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 743 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GTCTTTATGAGAGATATTAGC 0.423000 42 125 0 0 0.859065 0 0 ALX4 60529 broad.mit.edu 37 11 44296974 44296974 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:44296974T>A ENST00000329255.3 - 2 804 c.701A>T c.(700-702)cAg>cTg p.Q234L NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 234 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GTGGGTCTTCTGGAAGACCTT 0.617000 89 220 0 0 0.870114 0 0 MED12 9968 broad.mit.edu 37 X 70340889 70340889 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:70340889G>T ENST00000333646.6 + 5 821 c.622G>T c.(622-624)Ggg>Tgg p.G208W MED12_ENST00000374102.1_Missense_Mutation_p.G208W|MED12_ENST00000374080.3_Missense_Mutation_p.G208W NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 208 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CTACCGGCCAGGGCCTGCAGG 0.532000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 31 25 2.46105e-21 3.72133e-21 0.750413 1 0 KLF14 136259 broad.mit.edu 37 7 130418350 130418350 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:130418350G>C ENST00000310992.4 - 1 538 c.511C>G c.(511-513)Cta>Gta p.L171V NM_138693.2 NP_619638.1 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) CCTGCCCCTAGGGCCCCTCCA 0.741000 4 10 0 0 0.150653 0 0 DST 667 broad.mit.edu 37 6 56471280 56471280 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:56471280C>A ENST00000370754.5 - 39 8046 c.8047G>T c.(8047-8049)Gtg>Ttg p.V2683L DST_ENST00000446842.2_Missense_Mutation_p.V2179L|DST_ENST00000361203.3_Missense_Mutation_p.V2505L|DST_ENST00000312431.6_Missense_Mutation_p.V2505L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.V2505L Q03001 DYST_HUMAN dystonin 2505 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGTCCATTCACCTTATCTGAG 0.373000 11 56 2.80697e-09 3.38807e-09 0.387290 1 0 AK8 158067 broad.mit.edu 37 9 135602855 135602855 + Silent SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:135602855T>A ENST00000298545.3 - 12 1709 c.1188A>T c.(1186-1188)ccA>ccT p.P396P AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 396 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 CCCCAGTGACTGGATCAATTC 0.473000 34 113 0 0 0.796494 0 0 CHD8 57680 broad.mit.edu 37 14 21859702 21859702 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:21859702C>T ENST00000399982.2 - 35 7049 c.6985G>A c.(6985-6987)Gag>Aag p.E2329K CHD8_ENST00000557364.1_Missense_Mutation_p.E2329K|CHD8_ENST00000430710.3_Missense_Mutation_p.E2050K NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2329 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GGGGCATCCTCACCCACCAGC 0.557000 13 35 0 0 0.411799 0 0 MROH9 80133 broad.mit.edu 37 1 170927641 170927641 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:170927641C>A ENST00000367759.4 + 4 266 c.112C>A c.(112-114)Ctg>Atg p.L38M MROH9_ENST00000367758.3_Missense_Mutation_p.L38M NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 ATACTCAGGCCTGTTAAGTAA 0.333000 30 142 7.6516e-34 1.2594e-33 0.750413 1 0 PIK3CA 5290 broad.mit.edu 37 3 178948139 178948139 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:178948139T>C ENST00000263967.3 + 20 3068 c.2911T>C c.(2911-2913)Tgc>Cgc p.C971R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 971 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGCCCAAGAATGCACAAAGAC 0.343000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 21 124 0 0 0.654019 0 0 POTEH 23784 broad.mit.edu 37 22 16287846 16287846 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:16287846C>T ENST00000343518.6 - 1 91 c.40G>A c.(40-42)Gtg>Atg p.V14M NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 14 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 GGCTTCTTCACAGAGGAGGCA 0.587000 34 70 0 0 0.819951 0 0 PTPRO 5800 broad.mit.edu 37 12 15475702 15475702 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:15475702C>A ENST00000281171.4 + 1 372 c.42C>A c.(40-42)ctC>ctA p.L14L PTPRO_ENST00000348962.2_Silent_p.L14L|PTPRO_ENST00000543886.1_Silent_p.L14L NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 14 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CCCGCCGCCTCCTGCCTCTGC 0.741000 10 21 1.15088e-07 1.31967e-07 0.500413 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125285021 125285021 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:125285021G>A ENST00000431078.1 + 10 1998 c.1634G>A c.(1633-1635)aGc>aAc p.S545N NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 545 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GATCTGTGTAGCATCAAAGAC 0.398000 38 120 0 0 0.840704 0 0 OR56A4 120793 broad.mit.edu 37 11 6024019 6024019 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:6024019G>A ENST00000330728.4 - 1 405 c.360C>T c.(358-360)ctC>ctT p.L120L NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGGGAGAGGAGGCTGAGCA 0.607000 25 85 0 0 0.706142 0 0 CCPG1 9236 broad.mit.edu 37 15 55669217 55669217 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:55669217T>C ENST00000310958.6 - 5 682 c.384A>G c.(382-384)gcA>gcG p.A128A CCPG1_ENST00000442196.3_Silent_p.A128A|CCPG1_ENST00000425574.3_Silent_p.A128A|CCPG1_ENST00000569205.1_Silent_p.A128A|DYX1C1-CCPG1_ENST00000565113.1_RNA NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 128 Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) CTGAACTCTGTGCTTCTTCAA 0.388000 43 108 0 0 0.834066 0 0 PDZD2 23037 broad.mit.edu 37 5 32090710 32090710 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:32090710G>A ENST00000438447.1 + 20 7544 c.7156G>A c.(7156-7158)Ggt>Agt p.G2386S PDZD2_ENST00000282493.3_Missense_Mutation_p.G2386S O15018 PDZD2_HUMAN PDZ domain containing 2 2386 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGCCACCCAGGTGACGCAGC 0.617000 14 52 0 0 0.479597 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573129 140573129 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140573129T>A ENST00000239446.4 + 1 1188 c.1004T>A c.(1003-1005)gTg>gAg p.V335E NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 335 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGGTTTTAGTGGAAGTATTG 0.408000 41 80 0 0 0.840704 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478684 21478684 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:21478684C>A ENST00000281523.2 - 5 969 c.451G>T c.(451-453)Ggg>Tgg p.G151W ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 151 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCTGGTGTCCCTGCAGTACCG 0.408000 35 58 3.09479e-21 4.66933e-21 0.827153 1 0 AGBL1 123624 broad.mit.edu 37 15 87089303 87089303 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:87089303C>G ENST00000441037.2 + 19 2713 c.2618C>G c.(2617-2619)aCc>aGc p.T873S AGBL1_ENST00000389298.3_Missense_Mutation_p.T604S|AGBL1_ENST00000421325.2_Missense_Mutation_p.T873S NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 873 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ATCAAGGAAACCTTGTGGCAA 0.463000 7 32 0 0 0.335167 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6838029 6838029 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:6838029A>G ENST00000403107.1 + 20 2855 c.2468A>G c.(2467-2469)aAg>aGg p.K823R RSPH10B2_ENST00000297186.3_Missense_Mutation_p.K823R|RSPH10B2_ENST00000359718.3_3'UTR|CCZ1B_ENST00000316731.8_3'UTR|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.K823R|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.K823R radial spoke head 10 homolog B2 (Chlamydomonas) breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2) 15 GAAGAGGCCAAGAGACATGAC 0.483000 18 125 0 0 0.654019 0 0 GOLGA1 2800 broad.mit.edu 37 9 127670691 127670691 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:127670691T>C ENST00000373555.4 - 12 1363 c.1030A>G c.(1030-1032)Agc>Ggc p.S344G NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 344 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TTAGCCTGGCTGCTTCTGGCT 0.473000 33 130 0 0 0.804634 0 0 KLF7 8609 broad.mit.edu 37 2 207989096 207989096 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:207989096C>G ENST00000309446.6 - 2 511 c.135G>C c.(133-135)acG>acC p.T45T KLF7_ENST00000421199.1_Silent_p.T12T|KLF7_ENST00000423015.1_Silent_p.T45T|KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000458272.1_Silent_p.T45T|KLF7_ENST00000412414.2_Silent_p.T17T NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 45 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) TCCGGGGCTCCGTCTGTAGGT 0.557000 9 24 0 0 0.335167 0 0 PKHD1 5314 broad.mit.edu 37 6 51927386 51927386 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:51927386T>A ENST00000371117.3 - 14 1324 c.1049A>T c.(1048-1050)tAc>tTc p.Y350F PKHD1_ENST00000340994.4_Missense_Mutation_p.Y350F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 350 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTGCCACCTGTACCCTGGGGT 0.483000 49 118 0 0 0.870114 0 0 GLT8D1 55830 broad.mit.edu 37 3 52734476 52734476 + Translation_Start_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:52734476T>A ENST00000407584.3 - 3 851 c.1A>T c.(1-3)Atg>Ttg p.M1L GLT8D1_ENST00000478968.2_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000266014.5_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000394783.3_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000491606.1_Start_Codon_SNP_p.M1L NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 1 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CGGAATGACATCTTTTTCTTC 0.338000 5 115 0 0 0.184627 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413755 121413755 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:121413755T>G ENST00000393667.3 - 13 5725 c.5615A>C c.(5614-5616)gAa>gCa p.E1872A GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1867A NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1867 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTTCTCATTTTCTAAAGTCTG 0.353000 87 340 0 0 0.870114 0 0 ADPRH 141 broad.mit.edu 37 3 119305452 119305452 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:119305452G>T ENST00000478399.1 + 3 2024 c.619G>T c.(619-621)Gtc>Ttc p.V207F ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.V207F|ADPRH_ENST00000357003.3_Missense_Mutation_p.V207F|ADPRH_ENST00000478927.1_Missense_Mutation_p.V207F P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 207 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AAAGTACATTGTCCAATCAGG 0.483000 36 121 6.02846e-25 9.44778e-25 0.779181 1 0 C2CD3 26005 broad.mit.edu 37 11 73753213 73753213 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:73753213T>A ENST00000334126.7 - 29 5772 c.5546A>T c.(5545-5547)aAc>aTc p.N1849I C2CD3_ENST00000313663.7_Missense_Mutation_p.N1849I Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1849 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CCGGCGAATGTTCTGCACATG 0.433000 39 56 0 0 0.853193 0 0 IQGAP2 10788 broad.mit.edu 37 5 75906917 75906917 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:75906917T>C ENST00000274364.6 + 13 1727 c.1430T>C c.(1429-1431)cTc>cCc p.L477P IQGAP2_ENST00000379730.3_Missense_Mutation_p.L36P|IQGAP2_ENST00000396234.3_Missense_Mutation_p.L30P|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L30P NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 477 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAAACTTTGCTCCTACCTACT 0.408000 41 86 0 0 0.834066 0 0 JAK3 3718 broad.mit.edu 37 19 17949121 17949121 + Missense_Mutation SNP T T A rs140690573 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17949121T>A ENST00000458235.1 - 11 1619 c.1520A>T c.(1519-1521)cAg>cTg p.Q507L JAK3_ENST00000527670.1_Missense_Mutation_p.Q507L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.Q507L NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 507 B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.Q507R(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CTGACTCAGCTGGTATTGGGA 0.547000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 94 205 0 0 0.870114 0 0 CTSS 1520 broad.mit.edu 37 1 150724474 150724474 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:150724474C>A ENST00000368985.3 - 5 670 c.410G>T c.(409-411)gGt>gTt p.G137V CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.G87V NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 137 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) CCAGCAAGCACCACAAGAACC 0.498000 21 66 3.62473e-10 4.51778e-10 0.608945 1 0 GALNT13 114805 broad.mit.edu 37 2 155102362 155102362 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:155102362G>T ENST00000392825.3 + 7 1291 c.724G>T c.(724-726)Gat>Tat p.D242Y GALNT13_ENST00000409237.1_Missense_Mutation_p.D242Y NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 242 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGTGATTAGTGATGATACTTT 0.363000 43 142 1.51926e-22 2.31762e-22 0.870114 1 0 RTTN 25914 broad.mit.edu 37 18 67860629 67860629 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:67860629G>A ENST00000255674.6 - 8 1188 c.902C>T c.(901-903)tCc>tTc p.S301F RTTN_ENST00000454359.1_Missense_Mutation_p.S301F|RTTN_ENST00000437017.1_Missense_Mutation_p.S301F NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 301 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AGGATTCTGGGAATGATGAGT 0.488000 21 69 0 0 0.608945 0 0 TTC14 151613 broad.mit.edu 37 3 180319919 180319919 + Translation_Start_Site SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:180319919G>A ENST00000296015.4 + 0 2 NM_133462.3 NP_597719.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GGTGTAACTGGTTGTGCTGTC 0.622000 7 14 0 0 0.248553 0 0 IGF1R 3480 broad.mit.edu 37 15 99456391 99456391 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:99456391G>T ENST00000268035.6 + 8 2319 c.1708G>T c.(1708-1710)Ggg>Tgg p.G570W IGF1R_ENST00000558762.1_Missense_Mutation_p.G570W NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 570 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTTACTACATGGGCTGAAGCC 0.577000 29 68 6.00712e-18 8.59231e-18 0.760397 1 0 ANKLE1 126549 broad.mit.edu 37 19 17394535 17394535 + Nonsense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17394535G>A ENST00000394458.3 + 5 1238 c.962G>A c.(961-963)tGg>tAg p.W321* ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.W343*|ANKLE1_ENST00000433424.2_Nonsense_Mutation_p.W375*|ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.W321*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.W310* NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 321 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 CACTGCCTGTGGGAGCACCAG 0.612000 30 123 0 0 0.779181 0 0 DDX26B 203522 broad.mit.edu 37 X 134680705 134680705 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:134680705G>T ENST00000370752.4 + 5 842 c.508G>T c.(508-510)Gcc>Tcc p.A170S DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 170 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) AAGGTTATTTGCCCTGGTGTT 0.468000 44 50 1.76056e-25 2.77813e-25 0.859065 1 0 TDRD5 163589 broad.mit.edu 37 1 179587802 179587802 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:179587802A>G ENST00000444136.1 + 5 1150 c.900A>G c.(898-900)aaA>aaG p.K300K TDRD5_ENST00000294848.8_Silent_p.K300K|TDRD5_ENST00000367614.1_Silent_p.K300K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 300 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CAGAACTAAAACATAAGATAA 0.294000 31 89 0 0 0.729181 0 0 E2F5 1875 broad.mit.edu 37 8 86114380 86114380 + Splice_Site SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:86114380A>T ENST00000418930.2 + 2 430 c.e2-1 E2F5_ENST00000519128.1_Splice_Site|E2F5_ENST00000416274.2_Splice_Site|E2F5_ENST00000521429.1_Splice_Site|E2F5_ENST00000517476.1_Splice_Site|E2F5_ENST00000256117.5_Splice_Site Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 TTTCCTGAACAGGCTGCTGAT 0.348000 5 20 0 0 0.217242 0 0 SFMBT1 51460 broad.mit.edu 37 3 52977588 52977588 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:52977588C>A ENST00000394752.3 - 4 527 c.145G>T c.(145-147)Gga>Tga p.G49* SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.G49*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.G49*|SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.G49* NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 49 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) GGAGCAAATCCATTTTGCAAA 0.433000 33 85 1.22384e-17 1.73608e-17 0.769981 1 0 TIAM2 26230 broad.mit.edu 37 6 155450864 155450864 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:155450864G>T ENST00000461783.3 + 6 1780 c.507G>T c.(505-507)ctG>ctT p.L169L TIAM2_ENST00000529824.2_Silent_p.L169L|TIAM2_ENST00000318981.5_Silent_p.L169L|TIAM2_ENST00000456144.1_Silent_p.L169L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L169L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 169 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGGGGAAGCTGGATGGGTGTT 0.587000 17 68 2.39187e-15 3.2781e-15 0.575678 1 0 KIAA2018 205717 broad.mit.edu 37 3 113375785 113375785 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:113375785G>A ENST00000316407.4 - 7 5154 c.4744C>T c.(4744-4746)Cct>Tct p.P1582S KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1582S NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1582 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 CTAGTTGAAGGGTTTTCACAG 0.498000 43 73 0 0 0.847076 0 0 VWA3B 200403 broad.mit.edu 37 2 98851213 98851213 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:98851213C>G ENST00000477737.1 + 17 2615 c.2411C>G c.(2410-2412)aCt>aGt p.T804S NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 804 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGCCGGAGGACTGCTCTAAGT 0.532000 18 34 0 0 0.575678 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 3 36 0 0 0.150653 0 0 SCN3A 6328 broad.mit.edu 37 2 166019249 166019249 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:166019249C>T ENST00000360093.3 - 8 1275 c.784G>A c.(784-786)Gct>Act p.A262T SCN3A_ENST00000409101.3_Missense_Mutation_p.A262T|SCN3A_ENST00000283254.7_Missense_Mutation_p.A262T NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 262 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCAATGAGAGCAAACACGCTC 0.483000 34 98 0 0 0.750413 0 0 IL12RB1 3594 broad.mit.edu 37 19 18182953 18182953 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:18182953C>A ENST00000600835.1 - 10 1293 c.990G>T c.(988-990)caG>caT p.Q330H IL12RB1_ENST00000322153.6_Missense_Mutation_p.Q330H|IL12RB1_ENST00000593993.1_Missense_Mutation_p.Q330H|IL12RB1_ENST00000430026.2_Missense_Mutation_p.Q330H P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 330 Fibronectin type-III 3. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TGTGCCACGTCTGGTTCAGGC 0.622000 6 32 0.00116845 0.00122544 0.217242 1 0 SLC12A8 84561 broad.mit.edu 37 3 124802771 124802771 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:124802771G>T ENST00000423114.2 - 14 2194 c.2195C>A c.(2194-2196)tCc>tAc p.S732Y SLC12A8_ENST00000430155.2_Missense_Mutation_p.S504Y|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S703Y|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S703Y|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S364Y A0AV02 S12A8_HUMAN solute carrier family 12, member 8 703 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GTTCACGAGGGAGGAGTGGTG 0.572000 4 32 0.00909568 0.00932612 0.150653 1 0 PLD5 200150 broad.mit.edu 37 1 242511469 242511469 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:242511469C>A ENST00000427495.1 - 2 204 c.79G>T c.(79-81)Gtg>Ttg p.V27L PLD5_ENST00000536534.1_Missense_Mutation_p.V89L|PLD5_ENST00000442594.2_5'UTR NM_001195811.1|NM_001195812.1 NP_001182740.1|NP_001182741.1 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 89 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATGATGTCCACGGCTGAAAAG 0.448000 35 128 6.97489e-18 9.95586e-18 0.804634 1 0 TTN 7273 broad.mit.edu 37 2 179537416 179537416 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179537416G>T ENST00000589042.1 - 153 35025 c.34801C>A c.(34801-34803)Cct>Act p.P11601T TTN_ENST00000591111.1_Missense_Mutation_p.P11227T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10300T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11433 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCCTCAGGAATTTTCTTT 0.373000 6 24 1.06961e-07 1.23265e-07 0.278610 1 0 SLC2A4 6517 broad.mit.edu 37 17 7188426 7188426 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:7188426C>A ENST00000317370.8 + 9 1308 c.1040C>A c.(1039-1041)gCg>gAg p.A347E SLC2A4_ENST00000571308.1_Missense_Mutation_p.A347E|SLC2A4_ENST00000424875.2_Missense_Mutation_p.A337E NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 347 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 GTGGAGCGGGCGGGGCGCCGG 0.667000 10 7 0.000442599 0.000470647 0.335167 1 0 FAM65B 9750 broad.mit.edu 37 6 24873954 24873954 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:24873954C>A ENST00000259698.4 - 3 350 c.175G>T c.(175-177)Ggc>Tgc p.G59C FAM65B_ENST00000540914.1_Missense_Mutation_p.G59C|FAM65B_ENST00000510784.2_Missense_Mutation_p.G93C|FAM65B_ENST00000538035.1_Missense_Mutation_p.G88C|FAM65B_ENST00000378023.4_Missense_Mutation_p.G59C NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 59 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TTTTTGTGGCCTAAATTGTGC 0.428000 26 107 4.26978e-12 5.57421e-12 0.654019 1 0 KIAA1549 57670 broad.mit.edu 37 7 138603874 138603874 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:138603874C>A ENST00000440172.1 - 2 546 c.498G>T c.(496-498)tgG>tgT p.W166C KIAA1549_ENST00000422774.1_Missense_Mutation_p.W166C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.W116C NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 166 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTGGAGTGGTCCAGTGAGTAT 0.498000 O BRAF pilocytic astrocytoma 156 175 7.08382e-60 1.19161e-59 0.870114 1 0 BAI3 577 broad.mit.edu 37 6 69653751 69653751 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:69653751T>C ENST00000370598.1 + 6 1881 c.1060T>C c.(1060-1062)Tgg>Cgg p.W354R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 354 TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATGGTCACCATGGAGTTTATG 0.413000 51 148 0 0 0.870114 0 0 DNAJC10 54431 broad.mit.edu 37 2 183594600 183594600 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:183594600G>T ENST00000264065.6 + 8 1074 c.659G>T c.(658-660)aGa>aTa p.R220I DNAJC10_ENST00000537515.1_Missense_Mutation_p.R220I NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 220 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATGGAGACAGATCAAAGGAG 0.313000 26 106 1.22384e-17 1.73608e-17 0.769981 1 0 IGHV1-18 28468 broad.mit.edu 37 14 106641587 106641587 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:106641587G>T ENST00000390605.2 - 0 385 ACACGGCCGTGTCGTCAGATC 0.537000 75 260 2.22156e-40 3.70978e-40 0.870114 1 0 USH2A 7399 broad.mit.edu 37 1 216373030 216373030 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:216373030C>T ENST00000366943.2 - 17 4136 c.3750G>A c.(3748-3750)aaG>aaA p.K1250K USH2A_ENST00000307340.3_Silent_p.K1250K|USH2A_ENST00000366942.3_Silent_p.K1250K|RP5-1099E6.3_ENST00000420867.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1250 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTTCTGCATCTTAGGTGGAC 0.478000 HNSCC(13;0.011) 21 80 0 0 0.575678 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130381238 130381238 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:130381238G>T ENST00000529410.1 + 12 1296 c.817G>T c.(817-819)Gtg>Ttg p.V273L L3MBTL3_ENST00000526019.1_Missense_Mutation_p.V248L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.V273L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.V248L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.V248L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.V273L Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 273 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ATTAGAAGGCGTGGATCCTGA 0.398000 18 64 5.35356e-11 6.82083e-11 0.639603 1 0 SI 6476 broad.mit.edu 37 3 164786974 164786974 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:164786974C>A ENST00000264382.3 - 4 327 c.265G>T c.(265-267)Gca>Tca p.A89S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 89 P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.A89S(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCTCTCTGTGCACAAATTCCC 0.353000 HNSCC(35;0.089) 10 48 0.0383953 0.0390769 0.539581 1 0 KRBA1 84626 broad.mit.edu 37 7 149420905 149420905 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:149420905A>T ENST00000255992.10 + 8 1252 c.853A>T c.(853-855)Agg>Tgg p.R285W KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.R285W|KRBA1_ENST00000319551.8_Missense_Mutation_p.R285W NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCCAGGACAGGCATCCCAG 0.587000 13 80 0 0 0.435327 0 0 IQUB 154865 broad.mit.edu 37 7 123104887 123104887 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:123104887C>A ENST00000466202.1 - 10 2334 c.1758_splice c.e10+1 p.K586_splice IQUB_ENST00000434450.1_Splice_Site_p.K586_splice|IQUB_ENST00000324698.6_Splice_Site_p.K586_splice Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 586 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGTAGAATACCTTAAGGTATT 0.303000 29 140 2.12542e-12 2.78531e-12 0.706142 1 0 STK35 140901 broad.mit.edu 37 20 2097588 2097588 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:2097588G>T ENST00000381482.3 + 3 1440 c.1169G>T c.(1168-1170)gGg>gTg p.G390V STK35_ENST00000246032.3_Missense_Mutation_p.G257V|STK35_ENST00000400064.3_Intron Q8TDR2 STK35_HUMAN serine/threonine kinase 35 390 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 GTCTGTGCTGGGCTGGCACCC 0.542000 13 78 2.32078e-09 2.82102e-09 0.479597 1 0 MGAM 8972 broad.mit.edu 37 7 141796147 141796147 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:141796147G>A ENST00000475668.2 + 65 7678 c.7624G>A c.(7624-7626)Gtg>Atg p.V2542M MGAM_ENST00000549489.2_Missense_Mutation_p.V1646M O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1646 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTCAGACCAGGTGACATGGGA 0.572000 47 40 0 0 0.870114 0 0 RINT1 60561 broad.mit.edu 37 7 105190713 105190713 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:105190713A>G ENST00000257700.2 + 9 1344 c.1113A>G c.(1111-1113)gaA>gaG p.E371E NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 371 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTTAGCTTGAATTTTCTCGGG 0.363000 166 188 0 0 0.870114 0 0 CDH17 1015 broad.mit.edu 37 8 95183180 95183180 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:95183180A>C ENST00000027335.3 - 8 941 c.817T>G c.(817-819)Tta>Gta p.L273V CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.L273V NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 273 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGTCAACTAAGGAATATTGT 0.453000 19 52 0 0 0.575678 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306180 2306180 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:2306180G>T ENST00000290974.2 - 8 2226 c.1887C>A c.(1885-1887)ccC>ccA p.P629P ZFYVE28_ENST00000511071.1_Silent_p.P599P|ZFYVE28_ENST00000515312.1_Silent_p.P559P|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 629 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TGTCGGAAGTGGGGGCTTTGG 0.667000 36 71 6.04917e-29 9.70124e-29 0.827153 1 0 MYH2 4620 broad.mit.edu 37 17 10427956 10427956 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:10427956G>A ENST00000245503.5 - 35 5386 c.5002C>T c.(5002-5004)Cgg>Tgg p.R1668W CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1668W|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1668 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCTGGCTCCGGAGAGCATCA 0.572000 21 50 0 0 0.624587 0 0 GLTPD1 80772 broad.mit.edu 37 1 1263084 1263084 + Missense_Mutation SNP C C A rs145750452 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:1263084C>A ENST00000343938.4 + 3 997 c.586C>A c.(586-588)Cgt>Agt p.R196S GLTPD1_ENST00000464957.1_3'UTR NM_001029885.1 NP_001025056.1 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 196 cytoplasm glycolipid binding|glycolipid transporter activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTTCATCCAGCGTGTCTACAA 0.672000 21 64 1.64113e-05 1.78938e-05 0.592651 1 0 TRAV17 28666 broad.mit.edu 37 14 22466318 22466318 + RNA SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:22466318T>A ENST00000390445.2 + 0 395 AGATTAAGAGTCACGCTTGAC 0.438000 16 46 0 0 0.479597 0 0 CASP5 838 broad.mit.edu 37 11 104869720 104869720 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:104869720C>T ENST00000393141.2 - 7 1058 c.1027G>A c.(1027-1029)Gca>Aca p.A343T CASP5_ENST00000260315.3_Missense_Mutation_p.A330T|CASP5_ENST00000531367.1_Missense_Mutation_p.A188T|CASP5_ENST00000418434.1_Missense_Mutation_p.A188T|CASP5_ENST00000444749.2_Missense_Mutation_p.A272T|CASP5_ENST00000526056.1_Missense_Mutation_p.A343T|CASP5_ENST00000393139.2_3'UTR NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 330 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GCCAAGGATGCTGGAGAGTCT 0.418000 26 59 0 0 0.729181 0 0 RP1 6101 broad.mit.edu 37 8 55542575 55542575 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:55542575G>T ENST00000220676.1 + 4 6281 c.6133G>T c.(6133-6135)Ggt>Tgt p.G2045C NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2045 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTAGTTGTGGGTAATGTGGA 0.353000 25 53 2.27525e-19 3.35917e-19 0.667858 1 0 GAS2L3 283431 broad.mit.edu 37 12 101012273 101012273 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:101012273G>C ENST00000537247.1 + 8 1198 c.244G>C c.(244-246)Gag>Cag p.E82Q GAS2L3_ENST00000539410.1_Missense_Mutation_p.E186Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E186Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E186Q Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 186 CH. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 GAAAGAAATTGAGTTAGAAGA 0.423000 26 74 0 0 0.681144 0 0 DCHS2 54798 broad.mit.edu 37 4 155226280 155226280 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:155226280G>T ENST00000357232.3 - 16 3998 c.3999C>A c.(3997-3999)gaC>gaA p.D1333E NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1333 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GAATTTCTCTGTCAAGTATGG 0.338000 8 50 2.17888e-05 2.3682e-05 0.335167 1 0 MRRF 92399 broad.mit.edu 37 9 125084837 125084837 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:125084837G>A ENST00000344641.3 + 7 1041 c.730G>A c.(730-732)Gac>Aac p.D244N MRRF_ENST00000373729.1_Missense_Mutation_p.D200N|MRRF_ENST00000297908.3_Missense_Mutation_p.D192N|MRRF_ENST00000394315.3_Missense_Mutation_p.M190I|MRRF_ENST00000373723.4_Missense_Mutation_p.M190I NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor 244 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 AATGGCCGATGACACAGTGGC 0.493000 7 33 0 0 0.248553 0 0 COL6A2 1292 broad.mit.edu 37 21 47549387 47549387 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr21:47549387C>A ENST00000357838.4 + 28 2821 c.2739C>A c.(2737-2739)acC>acA p.T913T COL6A2_ENST00000397763.1_Silent_p.T913T|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 0 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCCCGAGACCGCGCTGGCCC 0.682000 4 12 0.150653 0.152202 0.150653 1 0 C7 730 broad.mit.edu 37 5 40979897 40979897 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:40979897C>T ENST00000313164.9 + 17 2595 c.2236C>T c.(2236-2238)Cat>Tat p.H746Y C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 746 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.H746N(1) Ovarian(839;0.0112) TTGCAAGATGCATGTTCTCCA 0.453000 14 53 0 0 0.479597 0 0 PJA1 64219 broad.mit.edu 37 X 68382107 68382107 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:68382107T>A ENST00000361478.1 - 2 1352 c.975A>T c.(973-975)aaA>aaT p.K325N PJA1_ENST00000374571.4_Missense_Mutation_p.K270N|PJA1_ENST00000374583.1_Missense_Mutation_p.K325N|PJA1_ENST00000374584.3_Missense_Mutation_p.K137N NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 325 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 TCGCTTCCCGTTTGTCTTCAG 0.552000 17 18 0 0 0.500413 0 0 CDR1 1038 broad.mit.edu 37 X 139866414 139866414 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:139866414G>T ENST00000370532.2 - 1 309 c.118C>A c.(118-120)Ctg>Atg p.L40M NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 40 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ATGTCTTCCAGCCTACTTGTG 0.438000 50 52 4.44712e-29 7.14865e-29 0.870114 1 0 NAV3 89795 broad.mit.edu 37 12 78444555 78444555 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78444555C>A ENST00000397909.2 + 11 2317 c.2144C>A c.(2143-2145)aCa>aAa p.T715K NAV3_ENST00000228327.6_Missense_Mutation_p.T715K|NAV3_ENST00000266692.7_Missense_Mutation_p.T715K|NAV3_ENST00000536525.2_Missense_Mutation_p.T715K Q8IVL0 NAV3_HUMAN neuron navigator 3 715 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACCCTGGAGACAACATTTGAC 0.463000 HNSCC(70;0.22) 23 96 4.7796e-09 5.7189e-09 0.681144 1 0 RSPO3 84870 broad.mit.edu 37 6 127471641 127471641 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:127471641A>G ENST00000356698.4 + 3 949 c.360A>G c.(358-360)ttA>ttG p.L120L RSPO3_ENST00000368317.3_Silent_p.L120L|RSPO3_ENST00000485757.1_3'UTR NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 120 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) GATTTTACTTACACCTTGGAA 0.368000 17 112 0 0 0.520397 0 0 NMS 129521 broad.mit.edu 37 2 101098739 101098739 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:101098739C>A ENST00000376865.1 + 9 422 c.414_splice c.e9-1 p.P139_splice NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 139 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 TTTTTTTCAGCCCAGGAATGG 0.423000 15 90 1.3612e-06 1.52278e-06 0.479597 1 0 CXCL12 6387 broad.mit.edu 37 10 44873324 44873324 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:44873324C>A ENST00000395794.2 - 4 339 c.296G>T c.(295-297)aGg>aTg p.R99M CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) AGCAATCACCCTCTTCCCGGC 0.607000 5 3 5.9392e-07 6.70964e-07 0.217242 1 0 ZNF440 126070 broad.mit.edu 37 19 11942379 11942379 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:11942379G>T ENST00000304060.5 + 4 552 c.388G>T c.(388-390)Gga>Tga p.G130* NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGGTGACATTGGACACAAGGC 0.408000 21 221 6.20995e-33 1.01968e-32 0.870114 1 0 ITGA8 8516 broad.mit.edu 37 10 15649735 15649735 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:15649735G>T ENST00000378076.3 - 17 2058 c.1705C>A c.(1705-1707)Cct>Act p.P569T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 569 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 ATCACAAGAGGGAAGACGCGA 0.448000 64 135 2.67592e-24 4.17468e-24 0.870114 1 0 MYH2 4620 broad.mit.edu 37 17 10429159 10429159 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:10429159C>T ENST00000245503.5 - 31 4606 c.4222G>A c.(4222-4224)Gaa>Aaa p.E1408K CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1408K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1408 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCTACATGTTCCTCAGCTGCC 0.483000 21 44 0 0 0.608945 0 0 ANXA3 306 broad.mit.edu 37 4 79500196 79500196 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:79500196T>C ENST00000264908.6 + 4 498 c.119T>C c.(118-120)aTg>aCg p.M40T ANXA3_ENST00000503570.2_Start_Codon_SNP_p.M1T|ANXA3_ENST00000512884.1_Start_Codon_SNP_p.M1T NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 40 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GATGAGAAAATGCTCATCAGC 0.368000 17 30 0 0 0.520397 0 0 TTN 7273 broad.mit.edu 37 2 179588378 179588378 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179588378G>T ENST00000589042.1 - 74 21673 c.21449C>A c.(21448-21450)cCa>cAa p.P7150Q TTN_ENST00000591111.1_Missense_Mutation_p.P6833Q|TTN_ENST00000342992.6_Missense_Mutation_p.P5906Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6833 Ig-like 53. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTTTGCCTGGTAGTACTTC 0.433000 11 27 0.00829132 0.00856521 0.361761 1 0 PCDH11X 27328 broad.mit.edu 37 X 91134249 91134249 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:91134249C>T ENST00000373094.1 + 2 3855 c.3010C>T c.(3010-3012)Cct>Tct p.P1004S PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1004S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P1004S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1004S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P1004S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1004 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTTCGAGGTACCTGTGTCCGT 0.423000 44 72 0 0 0.864702 0 0 PON1 5444 broad.mit.edu 37 7 94931576 94931576 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:94931576A>T ENST00000222381.3 - 8 1081 c.850T>A c.(850-852)Tgc>Agc p.C284S PON1_ENST00000542556.1_Missense_Mutation_p.C284S NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 284 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TTGGGATGGCATCCAACCCAA 0.388000 58 59 0 0 0.870114 0 0 IL12A 3592 broad.mit.edu 37 3 159711264 159711264 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:159711264G>A ENST00000305579.2 + 4 712 c.405G>A c.(403-405)gaG>gaA p.E135E CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Silent_p.E97E|IL12A_ENST00000466512.1_Intron NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) 101 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATTCCAGAGAGACCTCTTTCA 0.313000 10 100 0 0 0.387290 0 0 LRP2BP 55805 broad.mit.edu 37 4 186295607 186295607 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:186295607C>T ENST00000362004.3 - 4 1156 c.345G>A c.(343-345)ggG>ggA p.G115G LRP2BP_ENST00000510776.1_Silent_p.G87G|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000328559.7_Silent_p.G113G|LRP2BP_ENST00000505916.1_Silent_p.G113G Q9P2M1 LR2BP_HUMAN LRP2 binding protein 113 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TATAGTCCACCCCTTTCTCCT 0.393000 34 77 0 0 0.750413 0 0 OR4A5 81318 broad.mit.edu 37 11 51411678 51411678 + Missense_Mutation SNP C C A rs5011055 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:51411678C>A ENST00000319760.6 - 1 770 c.718G>T c.(718-720)Ggc>Tgc p.G240C NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ACGGTACTGCCGGAGCTGCAG 0.398000 5 67 0.217242 0.218513 0.217242 1 0 C9orf41 138199 broad.mit.edu 37 9 77599914 77599914 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:77599914T>A ENST00000376834.3 - 7 1189 c.1037A>T c.(1036-1038)tAc>tTc p.Y346F C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 346 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 TTCAAAGTGGTACAGCAGAGG 0.348000 26 69 0 0 0.667858 0 0 CD53 963 broad.mit.edu 37 1 111435056 111435056 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:111435056G>T ENST00000271324.5 + 3 265 c.153G>T c.(151-153)acG>acT p.T51T CD53_ENST00000429072.2_Silent_p.T51T NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 51 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CCTCCCTCACGCTGGGCAATG 0.507000 39 105 2.75727e-19 4.04478e-19 0.804634 1 0 LRP1B 53353 broad.mit.edu 37 2 141130602 141130602 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:141130602C>A ENST00000389484.3 - 69 11714 c.10743G>T c.(10741-10743)ggG>ggT p.G3581G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3581 LDL-receptor class A 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTCATCTTCCCCATATTTGC 0.363000 TSP Lung(27;0.18) 45 183 1.00221e-16 1.39863e-16 0.870114 1 0 MME 4311 broad.mit.edu 37 3 154861232 154861232 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:154861232G>T ENST00000460393.1 + 13 1309 c.1188_splice c.e13-1 p.A397_splice MME_ENST00000462745.1_Splice_Site_p.A397_splice|MME_ENST00000492661.1_Splice_Site_p.A397_splice|MME_ENST00000493237.1_Splice_Site_p.A397_splice|MME_ENST00000360490.2_Splice_Site_p.A397_splice NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 397 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTTTCCGTAGGCCCTTTATGG 0.418000 29 219 1.75199e-13 2.34052e-13 0.717897 1 0 CEACAM5 1048 broad.mit.edu 37 19 42213713 42213713 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:42213713A>T ENST00000221992.6 + 2 293 c.179A>T c.(178-180)cAg>cTg p.Q60L CEACAM5_ENST00000405816.1_Missense_Mutation_p.Q60L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.Q60L|CEA_ENST00000598976.1_Missense_Mutation_p.Q60L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 60 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AATCTGCCCCAGCATCTTTTT 0.507000 53 142 0 0 0.870114 0 0 HERC2 8924 broad.mit.edu 37 15 28388011 28388011 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:28388011T>A ENST00000261609.7 - 75 11614 c.11506A>T c.(11506-11508)Agg>Tgg p.R3836W NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3836 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTGCCACCCCTCACAATAGGA 0.408000 5 17 0 0 0.184627 0 0 FNDC3B 64778 broad.mit.edu 37 3 172046816 172046816 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:172046816G>T ENST00000336824.4 + 12 1428 c.1329G>T c.(1327-1329)ccG>ccT p.P443P FNDC3B_ENST00000416957.1_Silent_p.P443P|FNDC3B_ENST00000415807.2_Silent_p.P443P NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 443 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGCTTTGTCCGGCAATGGGGT 0.473000 29 164 2.47511e-08 2.91588e-08 0.729181 1 0 MAP2K5 5607 broad.mit.edu 37 15 67873100 67873100 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:67873100C>T ENST00000178640.5 + 4 888 c.261C>T c.(259-261)tcC>tcT p.S87S MAP2K5_ENST00000354498.5_Silent_p.S51S|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Silent_p.S87S NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 87 OPR. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 AGTATTATTCCACAGTAATGG 0.328000 41 136 0 0 0.847076 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906635 164906635 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:164906635C>A ENST00000475390.1 - 2 2427 c.1984G>T c.(1984-1986)Gtt>Ttt p.V662F SLITRK3_ENST00000241274.3_Missense_Mutation_p.V662F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 662 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AAAAACAGAACCAGCAGGCTG 0.527000 HNSCC(40;0.11) 15 52 1.3612e-06 1.52278e-06 0.479597 1 0 PKDREJ 10343 broad.mit.edu 37 22 46656831 46656831 + Missense_Mutation SNP G G T rs140368137 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:46656831G>T ENST00000253255.5 - 1 2388 c.2389C>A c.(2389-2391)Cgc>Agc p.R797S NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 797 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GATCGAAAGCGTTTATCTTTT 0.398000 32 112 1.08312e-15 1.49937e-15 0.740014 1 0 LMTK2 22853 broad.mit.edu 37 7 97822447 97822447 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:97822447T>C ENST00000297293.5 + 11 2963 c.2670T>C c.(2668-2670)agT>agC p.S890S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 890 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTGGCGAGAGTGAGGAGACCC 0.557000 51 50 0 0 0.870114 0 0 RDH8 50700 broad.mit.edu 37 19 10129427 10129427 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:10129427C>A ENST00000591589.1 + 3 532 c.343C>A c.(343-345)Ctg>Atg p.L115M RDH8_ENST00000171214.1_Missense_Mutation_p.L95M Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 95 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) TGGAATGGGCCTGGTGGGGCC 0.517000 42 245 6.4308e-24 9.98734e-24 0.870114 1 0 DEFB4A 1673 broad.mit.edu 37 8 7752250 7752250 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:7752250C>A ENST00000302247.2 + 1 100 c.16C>A c.(16-18)Ctc>Atc p.L6I NM_004942.2 NP_004933.1 O15263 DFB4A_HUMAN defensin, beta 4A 6 chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response extracellular region lung(1) 1 GGTCTTGTATCTCCTCTTCTC 0.527000 7 111 0.000673444 0.00071172 0.361761 1 0 CYP4F8 11283 broad.mit.edu 37 19 15739139 15739139 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:15739139G>T ENST00000441682.2 + 0 1204 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGCCCTTCCTGACCATGTGCC 0.617000 33 120 6.05902e-23 9.32574e-23 0.788014 1 0 C7orf34 135927 broad.mit.edu 37 7 142636723 142636723 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:142636723C>T ENST00000409607.3 + 1 121 c.80C>T c.(79-81)cCt>cTt p.P27L NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 2 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) AGGTCCATGCCTCCCCTGGCC 0.662000 14 60 0 0 0.500413 0 0 WDR49 151790 broad.mit.edu 37 3 167322199 167322199 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:167322199C>A ENST00000453925.2 - 2 186 c.152G>T c.(151-153)aGt>aTt p.S51I WDR49_ENST00000479765.1_Missense_Mutation_p.S339I|WDR49_ENST00000308378.3_5'UTR Q8IV35 WDR49_HUMAN WD repeat domain 49 173 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CATCACCACACTATTTGTATT 0.358000 17 104 8.60227e-14 1.15819e-13 0.500413 1 0 HTR1E 3354 broad.mit.edu 37 6 87725859 87725859 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:87725859C>A ENST00000305344.4 + 2 1510 c.807C>A c.(805-807)gaC>gaA p.D269E HTR1E_ENST00000369584.1_Missense_Mutation_p.D269E NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 269 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCCCCTTCGACAATGATCTAG 0.502000 67 218 4.67498e-28 7.47997e-28 0.870114 1 0 PLEKHO1 51177 broad.mit.edu 37 1 150131289 150131289 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:150131289C>A ENST00000369124.4 + 6 1079 c.801C>A c.(799-801)ggC>ggA p.G267G PLEKHO1_ENST00000025469.6_Silent_p.G233G|PLEKHO1_ENST00000369126.1_Silent_p.G84G NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 267 Interaction with ATM, CKIP, IFP35 and NMI. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAGAAAGGCCGCTGCGCCT 0.647000 20 46 1.64113e-05 1.78938e-05 0.592651 1 0 FCRL2 79368 broad.mit.edu 37 1 157739772 157739772 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:157739772G>A ENST00000361516.3 - 4 527 c.479C>T c.(478-480)cCg>cTg p.P160L FCRL2_ENST00000392274.3_Missense_Mutation_p.P160L|FCRL2_ENST00000368181.4_Intron NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 160 Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTGGAGCTCCGGAGAGCTGCT 0.537000 25 86 0 0 0.706142 0 0 SLC9C1 285335 broad.mit.edu 37 3 111870716 111870716 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:111870716A>T ENST00000305815.5 - 28 3764 c.3512T>A c.(3511-3513)cTa>cAa p.L1171Q SLC9C1_ENST00000487372.1_Missense_Mutation_p.L1123Q NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 1171 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity GACTTTCCTTAGGTTTATTCT 0.522000 51 109 0 0 0.870114 0 0 TMEM2 23670 broad.mit.edu 37 9 74360468 74360468 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:74360468T>C ENST00000377044.4 - 4 1039 c.500A>G c.(499-501)gAt>gGt p.D167G TMEM2_ENST00000377066.5_Missense_Mutation_p.D167G NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 167 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCTGGATCCATCTTTATTGTC 0.423000 27 98 0 0 0.681144 0 0 DNAAF3 352909 broad.mit.edu 37 19 55677772 55677772 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:55677772G>T ENST00000527223.2 - 2 152 c.151C>A c.(151-153)Cct>Act p.P51T DNAAF3_ENST00000524407.2_Missense_Mutation_p.P4T|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P51T|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 4 GAGCCGGCAGGTGTGGTCATC 0.662000 OREG0025679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 46 2.21704e-12 2.89985e-12 0.639603 1 0 OR5L2 26338 broad.mit.edu 37 11 55594989 55594989 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55594989G>T ENST00000378397.1 + 1 295 c.295G>T c.(295-297)Gtg>Ttg p.V99L NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) AGGGTGCATGGTGCAATTCTA 0.468000 HNSCC(27;0.073) 21 129 3.28513e-13 4.35485e-13 0.667858 1 0 OR2W1 26692 broad.mit.edu 37 6 29012793 29012793 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:29012793G>T ENST00000377175.1 - 1 224 c.160C>A c.(160-162)Cag>Aag p.Q54K NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 GTATGAAGCTGGGAATCCAGG 0.428000 38 106 1.836e-18 2.64815e-18 0.788014 1 0 DHX37 57647 broad.mit.edu 37 12 125470763 125470763 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:125470763G>A ENST00000308736.2 - 2 253 c.155C>T c.(154-156)cCg>cTg p.P52L NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 52 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CTTCTTCCCCGGTAGAACGAG 0.493000 50 129 0 0 0.870114 0 0 L1CAM 3897 broad.mit.edu 37 X 153134316 153134316 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:153134316C>A ENST00000370060.1 - 12 1548 c.1359G>T c.(1357-1359)gcG>gcT p.A453A L1CAM_ENST00000361699.4_Silent_p.A453A|L1CAM_ENST00000361981.3_Silent_p.A448A|L1CAM_ENST00000370055.1_Silent_p.A448A|L1CAM_ENST00000543994.1_Silent_p.A455A|L1CAM_ENST00000538883.1_Silent_p.A455A|L1CAM_ENST00000370057.3_Silent_p.A453A NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 453 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGGCACAGGCGCTCCGAAGG 0.632000 46 48 2.31418e-15 3.17796e-15 0.870114 1 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 3 52 0 0 0.150653 0 0 C9orf135 138255 broad.mit.edu 37 9 72459432 72459432 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:72459432G>T ENST00000377197.3 + 2 239 c.e2-1 C9orf135_ENST00000466872.2_Intron|C9orf135_ENST00000527647.1_Splice_Site NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TTTTTCTTAAGGCACCGTGAC 0.328000 23 82 3.28513e-13 4.35485e-13 0.667858 1 0 CTGF 1490 broad.mit.edu 37 6 132271472 132271472 + Silent SNP G G A rs139453995 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:132271472G>A ENST00000367976.3 - 3 701 c.501C>T c.(499-501)gaC>gaT p.D167D NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 167 VWFC. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CCTTGGGCTCGTCACACACCC 0.632000 OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 160 0 0 0.870114 0 0 DNAH5 1767 broad.mit.edu 37 5 13876810 13876810 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:13876810T>A ENST00000265104.4 - 22 3483 c.3379A>T c.(3379-3381)Atc>Ttc p.I1127F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1127 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGGAGTTGATAATTGTGCTA 0.378000 Kartagener syndrome 17 82 0 0 0.539581 0 0 IGHG4 3503 broad.mit.edu 37 14 106092194 106092194 + RNA SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:106092194G>C ENST00000390543.2 - 0 209 TGGAGGGCACGGTCACCACGC 0.612000 22 109 0 0 0.639603 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309748 89309748 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:89309748G>T ENST00000493819.1 - 0 139 GATGGAGACTGGGTCAACTGG 0.458000 69 148 9.12251e-31 1.48026e-30 0.870114 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553967 140553967 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140553967G>T ENST00000231137.3 + 1 1725 c.1551G>T c.(1549-1551)agG>agT p.R517S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 517 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCCCTCAGGTCCCTGGACT 0.706000 28 60 2.4375e-19 3.591e-19 0.717897 1 0 LOC100128164 100128164 broad.mit.edu 37 3 169664002 169664002 + RNA SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:169664002C>T ENST00000483289.2 - 0 3292 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 CATGCCAGGGCTCATCCTAGT 0.498000 35 148 0 0 0.769981 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105360964 105360964 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:105360964G>A ENST00000297581.2 + 2 233 c.184G>A c.(184-186)Gct>Act p.A62T DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A62T NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 62 Poly-Ala. osteoclast differentiation cell surface|integral to membrane|plasma membrane CATAGCGGCCGCTGCCTCCTG 0.507000 49 84 0 0 0.870114 0 0 RFX6 222546 broad.mit.edu 37 6 117215197 117215197 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:117215197A>T ENST00000332958.2 + 5 630 c.614A>T c.(613-615)cAc>cTc p.H205L RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 205 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCATATTACCACTCCGTTTAT 0.393000 38 140 0 0 0.834066 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077657 32077657 + RNA SNP C C G rs144576359 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:32077657C>G ENST00000354689.6 + 0 272 RP11-1166P10.6_ENST00000566806.1_RNA GCCGAGGACACGGCTGTGTAT 0.542000 81 405 0 0 0.870114 0 0 FAM27L 284123 broad.mit.edu 37 17 21825561 21825561 + RNA SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:21825561C>A ENST00000426869.3 + 0 265 NR_028336.1 family with sequence similarity 27-like p.R21W(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) caggcctgcccggagggtgtt 0.632000 14 108 3.27435e-08 3.83774e-08 0.457914 1 0 ZNF676 163223 broad.mit.edu 37 19 22363057 22363057 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:22363057T>C ENST00000397121.2 - 3 1779 c.1462A>G c.(1462-1464)Acg>Gcg p.T488A NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATTGAGAACGTACTAAAGCCT 0.413000 39 128 0 0 0.804634 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229949 140229949 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140229949C>T ENST00000378122.3 + 1 2593 c.1869C>T c.(1867-1869)cgC>cgT p.R623R PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.R623R|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCGTTCCGCGTGGGGCTGT 0.667000 18 50 0 0 0.557998 0 0 ADCY2 108 broad.mit.edu 37 5 7826861 7826861 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:7826861G>T ENST00000338316.4 + 25 3242 c.3153G>T c.(3151-3153)caG>caT p.Q1051H ADCY2_ENST00000537121.1_Missense_Mutation_p.Q871H NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 1051 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TCGTCCTGCAGACCCTCGGAT 0.493000 23 105 4.54149e-19 6.61979e-19 0.624587 1 0 MIR1324 100302212 broad.mit.edu 37 3 75679932 75679932 + RNA SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:75679932G>A ENST00000408868.1 + 0 19 NR_031714.1 GGTGCATGAAGCCTGGTCCTG 0.557000 4 79 0 0 0.278610 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717318 13717318 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:13717318G>T ENST00000279593.3 - 13 3063 c.2854C>A c.(2854-2856)Ccg>Acg p.P952T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 952 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCACAGGGCGGGTTGTTGTAG 0.542000 40 94 8.16904e-11 1.03696e-10 0.834066 1 0 GPR98 84059 broad.mit.edu 37 5 89933675 89933675 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:89933675T>C ENST00000405460.2 + 11 2246 c.2150T>C c.(2149-2151)tTa>tCa p.L717S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 717 Calx-beta 5. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTTTTGTTTTTATCTGGGCAA 0.423000 29 52 0 0 0.729181 0 0 PABPC5 140886 broad.mit.edu 37 X 90691163 90691163 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:90691163C>A ENST00000312600.3 + 2 801 c.587C>A c.(586-588)gCa>gAa p.A196E PABPC5_ENST00000373105.1_Missense_Mutation_p.A32E NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 196 cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AGGGATAGAGCAACTTTCACC 0.458000 20 22 1.56452e-12 2.05418e-12 0.557998 1 0 AKAP9 10142 broad.mit.edu 37 7 91730192 91730192 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:91730192G>C ENST00000359028.2 + 45 11156 c.10931G>C c.(10930-10932)gGt>gCt p.G3644A AKAP9_ENST00000358100.2_Missense_Mutation_p.G3590A|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3640A Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3644 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCATTGAATGGTGGTGCCAAC 0.393000 T BRAF papillary thyroid 109 128 0 0 0.870114 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735898 55735898 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55735898G>A ENST00000312345.2 - 1 92 c.42C>T c.(40-42)ctC>ctT p.L14L NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GCATCCAGTGGAGATTGGGAA 0.338000 4 75 0 0 0.184627 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987805 182987805 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:182987805C>T ENST00000326505.3 + 2 749 c.219C>T c.(217-219)taC>taT p.Y73Y B3GNT5_ENST00000465010.1_Silent_p.Y73Y|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Silent_p.Y73Y|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 73 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGCCTCGCTACCAATACTTGA 0.418000 39 159 0 0 0.804634 0 0 TRPC3 7222 broad.mit.edu 37 4 122854037 122854037 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:122854037G>T ENST00000264811.5 - 1 575 c.157C>A c.(157-159)Cca>Aca p.P53T TRPC3_ENST00000513531.1_Missense_Mutation_p.P53T|TRPC3_ENST00000379645.3_Missense_Mutation_p.P126T NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 41 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CGCACCACTGGGATGTTGCCG 0.647000 7 65 0.0381472 0.0388819 0.278610 1 0 OR9G4 283189 broad.mit.edu 37 11 56510975 56510975 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56510975T>C ENST00000302957.3 - 1 312 c.313A>G c.(313-315)Aag>Gag p.K105E NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAAATGCGCTTATCTTCTGAG 0.458000 6 125 0 0 0.217242 0 0 MYO1G 64005 broad.mit.edu 37 7 45004594 45004594 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:45004594G>A ENST00000258787.7 - 18 2612 c.2476C>T c.(2476-2478)Cgt>Tgt p.R826C NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 826 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 CAGTCCTGACGAAGCCCTTGC 0.677000 31 98 0 0 0.750413 0 0 ZNF451 26036 broad.mit.edu 37 6 57012801 57012801 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:57012801C>T ENST00000370706.4 + 10 2162 c.1918C>T c.(1918-1920)Cac>Tac p.H640Y RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H640Y|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H640Y|RP11-203B9.4_ENST00000586668.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAGCTGTGCTCACTGCAGAAA 0.398000 31 105 0 0 0.840704 0 0 USP26 83844 broad.mit.edu 37 X 132162179 132162179 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:132162179C>G ENST00000511190.1 - 6 539 c.70G>C c.(70-72)Gaa>Caa p.E24Q USP26_ENST00000406273.1_Missense_Mutation_p.E24Q|USP26_ENST00000370832.1_Missense_Mutation_p.E24Q NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 24 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATGAATGCTTCTTTTGACTTA 0.358000 37 37 0 0 0.812448 0 0 ZNF467 168544 broad.mit.edu 37 7 149462101 149462101 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:149462101C>T ENST00000302017.3 - 5 1903 c.1490G>A c.(1489-1491)aGc>aAc p.S497N ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGACTTGCGGCTGAAGCGGCG 0.716000 8 19 0 0 0.278610 0 0 IGHG3 3502 broad.mit.edu 37 14 106236309 106236309 + RNA SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:106236309C>A ENST00000390551.2 - 0 494 GACGGTCCTCCCAGGAGTTCA 0.602000 25 43 3.7963e-18 5.46414e-18 0.654019 1 0 RIMS2 9699 broad.mit.edu 37 8 104897854 104897854 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:104897854C>T ENST00000507740.1 + 2 687 c.451C>T c.(451-453)Cca>Tca p.P151S RIMS2_ENST00000436393.2_Missense_Mutation_p.P121S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P151S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.P343S NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 374 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCCCGTTATCCAGTAAAGCC 0.478000 HNSCC(12;0.0054) 15 30 0 0 0.457914 0 0 POLE 5426 broad.mit.edu 37 12 133241050 133241050 + Splice_Site SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:133241050T>A ENST00000320574.5 - 22 2512 c.e22-2 POLE_ENST00000535270.1_Splice_Site NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGCGAGCCCTGAGAGGACAC 0.602000 DNA polymerases (catalytic subunits) 16 37 0 0 0.500413 0 0 AGMO 392636 broad.mit.edu 37 7 15430298 15430298 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:15430298G>C ENST00000342526.3 - 8 989 c.820C>G c.(820-822)Cag>Gag p.Q274E NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 274 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TATGTTACCTGCACTTTGATT 0.269000 30 136 0 0 0.717897 0 0 DLX5 1749 broad.mit.edu 37 7 96650323 96650323 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:96650323C>A ENST00000222598.4 - 3 1068 c.595G>T c.(595-597)Ggg>Tgg p.G199W DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 199 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGCATCTCCCCGTTTTTCATG 0.572000 16 96 5.35267e-07 6.06694e-07 0.557998 1 0 COL8A1 1295 broad.mit.edu 37 3 99509677 99509677 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:99509677T>C ENST00000261037.3 + 4 531 c.151T>C c.(151-153)Tac>Cac p.Y51H COL8A1_ENST00000273342.4_Missense_Mutation_p.Y51H NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 51 Nonhelical region (NC2). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AATTCCACAATACCAGCCCCT 0.537000 19 74 0 0 0.557998 0 0 SBK2 646643 broad.mit.edu 37 19 56042591 56042591 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:56042591A>G ENST00000413299.1 - 3 412 c.375T>C c.(373-375)atT>atC p.I125I SBK2_ENST00000344158.3_Silent_p.I125I NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 125 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 ACTCGATGCCAATGCCGTAGG 0.652000 10 33 0 0 0.361761 0 0 STAB2 55576 broad.mit.edu 37 12 104044339 104044339 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:104044339G>T ENST00000388887.2 + 11 1444 c.1240G>T c.(1240-1242)Gga>Tga p.G414* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 414 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TACAGACAAGGGACTGAAAGG 0.423000 9 31 2.74318e-10 3.43147e-10 0.335167 1 0 TPO 7173 broad.mit.edu 37 2 1459848 1459848 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:1459848G>T ENST00000345913.4 + 7 704 c.612_splice c.e7-1 p.V205_splice TPO_ENST00000382198.1_Splice_Site_p.V205_splice|TPO_ENST00000382201.3_Splice_Site_p.V205_splice|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Splice_Site_p.V205_splice|TPO_ENST00000337415.3_Splice_Site_p.V205_splice|TPO_ENST00000329066.4_Splice_Site_p.V205_splice|TPO_ENST00000346956.3_Splice_Site_p.V205_splice NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 205 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCCTACCCAGGTCCGGGAGGT 0.493000 7 30 0.00198382 0.00207427 0.248553 1 0 AGAP3 116988 broad.mit.edu 37 7 150817174 150817174 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:150817174C>G ENST00000397238.2 + 8 1070 c.1070C>G c.(1069-1071)gCc>gGc p.A357G AGAP3_ENST00000463381.1_Missense_Mutation_p.A129G|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Missense_Mutation_p.A537G|AGAP3_ENST00000473312.1_Missense_Mutation_p.A357G NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 321 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACCATCGCTGCCTCCTCCACC 0.667000 3 64 0 0 0.150653 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176058 140176058 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140176058G>T ENST00000526136.1 + 1 1509 c.1509G>T c.(1507-1509)gcG>gcT p.A503A PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A503A|PCDHA2_ENST00000520672.2_Silent_p.A503A NM_018905.2 NP_061728.1 p.A503A(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGCGCGCGTTGTCGAGCT 0.677000 17 33 5.35267e-07 6.06694e-07 0.557998 1 0 MYO6 4646 broad.mit.edu 37 6 76624544 76624544 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:76624544G>T ENST00000369981.3 + 35 3955 c.3676G>T c.(3676-3678)Gag>Tag p.E1226* MYO6_ENST00000369985.4_Nonsense_Mutation_p.E1202*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.E1193*|MYO6_ENST00000369977.3_Nonsense_Mutation_p.E1225* Q9UM54 MYO6_HUMAN myosin VI 1234 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GGACGACATGGAGATGTGTGA 0.448000 11 60 2.80697e-09 3.38807e-09 0.387290 1 0 KMT2B 9757 broad.mit.edu 37 19 36217232 36217232 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:36217232G>T ENST00000420124.1 + 14 3981 c.3981G>T c.(3979-3981)agG>agT p.R1327S WBP7_ENST00000222270.7_Missense_Mutation_p.R1327S|KMT2B_ENST00000607650.1_RNA TCTGCCCCAGGTGCACCCAGC 0.592000 13 45 1.5842e-08 1.87595e-08 0.435327 1 0 GPC5 2262 broad.mit.edu 37 13 92345593 92345593 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:92345593G>A ENST00000377067.3 + 3 850 c.478G>A c.(478-480)Gaa>Aaa p.E160K NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 160 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGTTAATCCTGAAGAATTTGT 0.448000 45 99 0 0 0.870114 0 0 INPP5B 3633 broad.mit.edu 37 1 38397463 38397463 + Silent SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:38397463T>G ENST00000373023.2 - 7 747 c.654A>C c.(652-654)gcA>gcC p.A218A INPP5B_ENST00000373026.1_Silent_p.A218A|INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373021.1_Silent_p.A218A NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 218 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGCCCCCGTGTGCCCGCTCCA 0.692000 19 23 0 0 0.539581 0 0 PROL1 58503 broad.mit.edu 37 4 71275727 71275727 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:71275727C>T ENST00000399575.2 + 3 856 c.682C>T c.(682-684)Caa>Taa p.Q228* NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 228 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) GACTTCCAACCAAACTATATT 0.408000 26 68 0 0 0.681144 0 0 PDILT 204474 broad.mit.edu 37 16 20410587 20410587 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:20410587G>T ENST00000302451.4 - 2 284 c.36C>A c.(34-36)gcC>gcA p.A12A NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 12 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 AGACACAAGCGGCCACCAGCA 0.592000 15 103 5.01169e-05 5.396e-05 0.520397 1 0 TAAR1 134864 broad.mit.edu 37 6 132966320 132966320 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:132966320G>T ENST00000275216.1 - 1 822 c.823C>A c.(823-825)Cct>Act p.P275T NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 275 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TGAAGAAAAGGGTCCATGACT 0.368000 21 95 1.50039e-11 1.94401e-11 0.608945 1 0 NRXN3 9369 broad.mit.edu 37 14 79175791 79175791 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:79175791C>A ENST00000554719.1 + 4 825 c.334C>A c.(334-336)Ctc>Atc p.L112I NRXN3_ENST00000335750.5_Missense_Mutation_p.L112I|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGCCTGATCCTCTTCACTCA 0.517000 54 127 1.87854e-15 2.58488e-15 0.870114 1 0 NLRC3 197358 broad.mit.edu 37 16 3614575 3614575 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:3614575G>T ENST00000301749.7 - 0 768 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCAGGGCGACGGTCCTGGCGG 0.706000 12 25 1.05317e-09 1.29853e-09 0.457914 1 0 MNDA 4332 broad.mit.edu 37 1 158815619 158815619 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:158815619C>A ENST00000368141.4 + 5 1074 c.813C>A c.(811-813)taC>taA p.Y271* NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 271 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TATCTGATTACTCTGAATGTA 0.343000 13 67 1.49906e-05 1.63967e-05 0.457914 1 0 MYOCD 93649 broad.mit.edu 37 17 12649298 12649298 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:12649298C>T ENST00000425538.1 + 9 1234 c.1034C>T c.(1033-1035)cCc>cTc p.P345L MYOCD_ENST00000343344.4_Missense_Mutation_p.P345L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P249L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 345 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AGCAATACCCCCTTGTCTCCT 0.423000 76 146 0 0 0.870114 0 0 CCP110 9738 broad.mit.edu 37 16 19557743 19557743 + Missense_Mutation SNP A A C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:19557743A>C ENST00000396212.2 + 13 3223 c.2787A>C c.(2785-2787)gaA>gaC p.E929D CCP110_ENST00000396208.2_Missense_Mutation_p.E929D|CCP110_ENST00000381396.5_Missense_Mutation_p.E929D NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 929 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 GAGCTGCTGAAATGGGAATGC 0.303000 18 44 0 0 0.557998 0 0 PSMA2 5683 broad.mit.edu 37 7 42966149 42966149 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:42966149C>A ENST00000442788.1 - 3 252 c.237G>T c.(235-237)atG>atT p.M79I PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000223321.4_Missense_Mutation_p.M79I|PSMA2_ENST00000538645.1_Start_Codon_SNP_p.M1I P25787 PSA2_HUMAN proteasome (prosome, macropain) subunit, alpha type, 2 79 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|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|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2) 10 AATCGGGGCCCATGCCACTGT 0.368000 26 71 2.48779e-11 3.2173e-11 0.693898 1 0 SCGN 10590 broad.mit.edu 37 6 25665232 25665232 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:25665232C>A ENST00000377961.2 + 4 476 c.308C>A c.(307-309)cCa>cAa p.P103Q SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 103 extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CGGGAAAACCCACTGGACAGC 0.493000 17 70 4.96729e-08 5.76306e-08 0.575678 1 0 SEL1L2 80343 broad.mit.edu 37 20 13868594 13868594 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:13868594C>A ENST00000284951.5 - 7 731 c.657G>T c.(655-657)atG>atT p.M219I SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M219I Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 219 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AAACCAAAATCATCTGGGACA 0.368000 17 119 2.94398e-08 3.46232e-08 0.557998 1 0 ZNF610 162963 broad.mit.edu 37 19 52869373 52869373 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:52869373G>T ENST00000601151.1 + 5 1065 c.613G>T c.(613-615)Gta>Tta p.V205L ZNF610_ENST00000403906.3_Missense_Mutation_p.V248L|ZNF610_ENST00000327920.8_Missense_Mutation_p.V248L|ZNF610_ENST00000321287.8_Missense_Mutation_p.V248L NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TTCACACCTTGTAGAACATTG 0.403000 24 56 9.57634e-11 1.21336e-10 0.654019 1 0 FAM150A 389658 broad.mit.edu 37 8 53451006 53451006 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:53451006G>C ENST00000358543.4 - 4 637 c.387C>G c.(385-387)acC>acG p.T129T FAM150A_ENST00000523939.1_Intron NM_207413.3 NP_997296.1 Q6UXT8 F150A_HUMAN family with sequence similarity 150, member A 129 extracellular region lung(1) 1 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) AGTTTTGCTAGGTCTGGGAGC 0.289000 15 25 0 0 0.539581 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250827 140250827 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140250827G>T ENST00000398640.2 + 1 2139 c.2139G>T c.(2137-2139)acG>acT p.T713T PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTACTCACGCTGCTGCTGT 0.687000 12 30 1.08611e-07 1.24957e-07 0.387290 1 0 GPR17 2840 broad.mit.edu 37 2 128408390 128408390 + Silent SNP G G A rs145234598 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:128408390G>A ENST00000544369.1 + 4 776 c.165G>A c.(163-165)acG>acA p.T55T LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.T55T|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000272644.3_Silent_p.T55T|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000355119.4_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 55 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) gccaggagacgccactggaga 0.547000 OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 90 0 0 0.769981 0 0 ZNF595 152687 broad.mit.edu 37 4 59410 59410 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:59410G>T ENST00000509152.2 + 2 276 c.91G>T c.(91-93)Gat>Tat p.D31Y ZNF595_ENST00000526473.2_Missense_Mutation_p.D31Y|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) TTTGTATAGAGATGTGATGTT 0.423000 37 831 5.71845e-15 7.82166e-15 0.812448 1 0 TRHDE 29953 broad.mit.edu 37 12 72956721 72956721 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:72956721T>C ENST00000261180.4 + 9 1904 c.1808T>C c.(1807-1809)tTg>tCg p.L603S TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 603 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ATCACCATCTTGGGAAACACA 0.338000 60 168 0 0 0.870114 0 0 HTR3E 285242 broad.mit.edu 37 3 183824076 183824076 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:183824076C>A ENST00000415389.2 + 8 1552 c.1086C>A c.(1084-1086)ccC>ccA p.P362P HTR3E_ENST00000335304.2_Silent_p.P377P|HTR3E_ENST00000425359.2_Silent_p.P347P|HTR3E_ENST00000436361.2_Silent_p.P362P|HTR3E_ENST00000440596.2_Silent_p.P388P NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 362 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GATGCTGTCCCACTGCGCCCC 0.662000 12 60 0.000978159 0.00102901 0.387290 1 0 GAREM 64762 broad.mit.edu 37 18 29848468 29848468 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:29848468G>A ENST00000399218.4 - 6 2049 c.1994C>T c.(1993-1995)cCa>cTa p.P665L GAREM_ENST00000269209.6_Missense_Mutation_p.P666L NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 AAAAGGTGCTGGGCAGTTTCT 0.532000 28 76 0 0 0.706142 0 0 SLC40A1 30061 broad.mit.edu 37 2 190430079 190430079 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:190430079C>A ENST00000261024.2 - 6 1187 c.e6+1 NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GTTCAGTTTACCTTTGTGTAA 0.368000 23 49 1.85244e-09 2.25972e-09 0.654019 1 0 HBP1 26959 broad.mit.edu 37 7 106822945 106822945 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:106822945A>G ENST00000222574.4 + 3 483 c.297A>G c.(295-297)ccA>ccG p.P99P HBP1_ENST00000485846.1_Silent_p.P99P|HBP1_ENST00000468410.1_Silent_p.P99P NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 99 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CAGACATACCAGAAACTACTT 0.423000 49 71 0 0 0.870114 0 0 USP29 57663 broad.mit.edu 37 19 57641829 57641829 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:57641829G>T ENST00000254181.4 + 4 2240 c.1786G>T c.(1786-1788)Gaa>Taa p.E596* USP29_ENST00000598197.1_Nonsense_Mutation_p.E596* NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 596 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTACCCGTTGAACCAGACAA 0.488000 19 48 5.3912e-06 5.93464e-06 0.539581 1 0 OR5H14 403273 broad.mit.edu 37 3 97868307 97868307 + Silent SNP C C A rs146669592 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:97868307C>A ENST00000437310.1 + 1 138 c.78C>A c.(76-78)ccC>ccA p.P26P NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.(=)(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGAAAATACCCCTGTTCCTGG 0.418000 162 224 1.8242e-84 3.0761e-84 0.870114 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12884844 12884844 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:12884844C>T ENST00000535591.1 - 4 1462 c.1267G>A c.(1267-1269)Gac>Aac p.D423N NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 423 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AATGACCTGTCGCCATGGTCA 0.468000 6 211 0 0 0.278610 0 0 CABP5 56344 broad.mit.edu 37 19 48543892 48543892 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:48543892T>C ENST00000293255.2 - 3 338 c.208A>G c.(208-210)Att>Gtt p.I70V NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 70 EF-hand 2. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) CCGAGCTCAATCAGTTCCATC 0.527000 18 91 0 0 0.592651 0 0 MAP2K6 5608 broad.mit.edu 37 17 67516411 67516411 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:67516411G>T ENST00000590474.1 + 6 654 c.366_splice c.e6-1 p.G123_splice MAP2K6_ENST00000589647.1_Splice_Site_p.G67_splice NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 123 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TGGTCTCCAGGGTGATGTGTG 0.343000 26 53 1.5548e-18 2.24727e-18 0.693898 1 0 IQCG 84223 broad.mit.edu 37 3 197665493 197665493 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:197665493C>T ENST00000265239.6 - 5 865 c.441G>A c.(439-441)caG>caA p.Q147Q IQCG_ENST00000455191.1_Silent_p.Q147Q|IQCG_ENST00000453254.1_Silent_p.Q147Q NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 147 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) AGACAAGATCCTGCATTTTGT 0.433000 120 654 0 0 0.870114 0 0 UNC80 285175 broad.mit.edu 37 2 210658494 210658494 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:210658494G>T ENST00000439458.1 + 7 929 c.849G>T c.(847-849)aaG>aaT p.K283N UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.K283N NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 283 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TCTCACCCAAGGCCACCATTT 0.463000 35 75 2.54651e-27 4.05555e-27 0.827153 1 0 SLC6A11 6538 broad.mit.edu 37 3 10861414 10861414 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:10861414C>G ENST00000254488.2 + 3 475 c.409C>G c.(409-411)Cag>Gag p.Q137E SLC6A11_ENST00000454147.1_Missense_Mutation_p.Q137E NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 137 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CTATGCAACACAGGTGATTGA 0.448000 48 112 0 0 0.870114 0 0 TMEM135 65084 broad.mit.edu 37 11 87013387 87013387 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:87013387G>A ENST00000340353.7 + 7 737 c.535G>A c.(535-537)Gca>Aca p.A179T TMEM135_ENST00000305494.5_Missense_Mutation_p.A201T|TMEM135_ENST00000535167.1_Missense_Mutation_p.A62T|TMEM135_ENST00000532959.1_Missense_Mutation_p.A72T NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 201 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTCACCAGAGGCAGCATATGC 0.378000 25 57 0 0 0.639603 0 0 RHBDF2 79651 broad.mit.edu 37 17 74473293 74473293 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:74473293G>A ENST00000591885.1 - 8 1439 c.889C>T c.(889-891)Cct>Tct p.P297S RHBDF2_ENST00000313080.4_Missense_Mutation_p.P326S|RHBDF2_ENST00000389760.4_Missense_Mutation_p.P297S Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 326 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GGGGAGACAGGGGAGGCTGAG 0.632000 5 11 0 0 0.248553 0 0 MMP10 4319 broad.mit.edu 37 11 102646043 102646043 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:102646043C>T ENST00000279441.4 - 7 978 c.942G>A c.(940-942)tgG>tgA p.W314* NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 314 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GGGATCTTCGCCAAAAATATC 0.328000 4 57 0 0 0.150653 0 0 GLP2R 9340 broad.mit.edu 37 17 9792733 9792733 + Missense_Mutation SNP G G T rs143908746 byFrequency TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:9792733G>T ENST00000262441.5 + 13 1886 c.1373G>T c.(1372-1374)cGc>cTc p.R458L GLP2R_ENST00000574745.1_Missense_Mutation_p.R278L NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 458 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TTGCTAGCCCGCCACTCAGGC 0.562000 16 31 1.37285e-15 1.89663e-15 0.500413 1 0 KIF26B 55083 broad.mit.edu 37 1 245850938 245850938 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:245850938C>G ENST00000366518.4 + 9 3614 c.3510C>G c.(3508-3510)gaC>gaG p.D1170E KIF26B_ENST00000407071.2_Missense_Mutation_p.D1551E Q2KJY2 KI26B_HUMAN kinesin family member 26B 1551 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGAGCCGGACAGCCTCTCCT 0.662000 3 7 0 0 0.150653 0 0 PARP2 10038 broad.mit.edu 37 14 20818708 20818708 + Missense_Mutation SNP C C A rs139090502 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:20818708C>A ENST00000527915.1 + 5 392 c.387C>A c.(385-387)aaC>aaA p.N129K PARP2_ENST00000429687.3_Missense_Mutation_p.N116K|PARP2_ENST00000250416.5_Missense_Mutation_p.N129K Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 129 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TCAACAACAACAAGTACTATC 0.363000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 19 99 1.00905e-13 1.35591e-13 0.575678 1 0 GPR133 283383 broad.mit.edu 37 12 131621519 131621519 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:131621519G>T ENST00000261654.5 + 23 2955 c.2394_splice c.e23-1 p.G799_splice GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 799 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCTTCCCAGGGACTGTTCATA 0.532000 19 85 1.85244e-09 2.25972e-09 0.654019 1 0 TXNL1 9352 broad.mit.edu 37 18 54293689 54293689 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:54293689C>A ENST00000217515.6 - 2 303 c.e2-1 TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TGGCCCACACCTGTTAGAAAA 0.363000 40 120 1.60099e-16 2.22971e-16 0.804634 1 0 FRG2B 441581 broad.mit.edu 37 10 135438781 135438781 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:135438781T>C ENST00000443774.1 - 4 711 c.662A>G c.(661-663)cAg>cGg p.Q221R FRG2B_ENST00000425520.1_Missense_Mutation_p.Q220R Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 220 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGTCTGCACCTGGGCACACAG 0.597000 10 21 0 0 0.479597 0 0 GALNT13 114805 broad.mit.edu 37 2 155158090 155158090 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:155158090A>T ENST00000392825.3 + 9 1711 c.1144A>T c.(1144-1146)Atc>Ttc p.I382F GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.I382F NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 382 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TTTCTTCTACATCATATCCCC 0.353000 40 136 0 0 0.819951 0 0 TTN 7273 broad.mit.edu 37 2 179437412 179437412 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179437412G>T ENST00000589042.1 - 326 73671 c.73447C>A c.(73447-73449)Ctg>Atg p.L24483M TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L22842M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L21915M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15543M|TTN_ENST00000460472.2_Missense_Mutation_p.L15418M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L15610M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22842 Fibronectin type-III 78. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAATAAGCAGGGTGTAAGAG 0.428000 38 97 4.32679e-17 6.08759e-17 0.827153 1 0 LAMA2 3908 broad.mit.edu 37 6 129371138 129371138 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:129371138C>A ENST00000421865.2 + 2 237 c.188C>A c.(187-189)cCt>cAt p.P63H NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 63 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAAAAAGGACCTGAAATGTAC 0.448000 28 82 1.12875e-08 1.34125e-08 0.706142 1 0 MUC16 94025 broad.mit.edu 37 19 9088915 9088915 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:9088915C>T ENST00000397910.4 - 1 3103 c.2900G>A c.(2899-2901)tGg>tAg p.W967* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 967 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCTCTGGCCAAGTTGTGCT 0.468000 61 235 0 0 0.870114 0 0 SVEP1 79987 broad.mit.edu 37 9 113261433 113261433 + Silent SNP C C T rs3737156 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:113261433C>T ENST00000401783.2 - 7 1905 c.1569G>A c.(1567-1569)acG>acA p.T523T SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.T523T|SVEP1_ENST00000374461.1_Silent_p.T500T|SVEP1_ENST00000374469.1_Silent_p.T500T NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 523 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CATAGCAGATCGTCCCAAATT 0.488000 18 44 0 0 0.557998 0 0 POLR3B 55703 broad.mit.edu 37 12 106786921 106786921 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:106786921C>T ENST00000228347.4 + 10 1058 c.836C>T c.(835-837)aCa>aTa p.T279I POLR3B_ENST00000539066.1_Missense_Mutation_p.T221I NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 279 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 CAGATTTTCACACAGATGCAG 0.458000 73 188 0 0 0.870114 0 0 SAMD7 344658 broad.mit.edu 37 3 169639112 169639112 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:169639112G>A ENST00000428432.2 + 4 586 c.197G>A c.(196-198)aGt>aAt p.S66N SAMD7_ENST00000335556.3_Missense_Mutation_p.S66N NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 66 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GTGTTGTCCAGTCGGATCTAC 0.438000 35 185 0 0 0.788014 0 0 MPPE1 65258 broad.mit.edu 37 18 11888679 11888679 + Nonsense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:11888679C>T ENST00000588072.1 - 6 1779 c.558G>A c.(556-558)tgG>tgA p.W186* MPPE1_ENST00000309976.9_Nonsense_Mutation_p.W186*|MPPE1_ENST00000399978.2_Nonsense_Mutation_p.W186*|MPPE1_ENST00000344987.7_Nonsense_Mutation_p.W186*|MPPE1_ENST00000317235.7_Nonsense_Mutation_p.W186* NM_023075.5 NP_075563.3 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 186 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 TAATGCCTTTCCAAGAAAACA 0.353000 9 31 0 0 0.335167 0 0 TTC14 151613 broad.mit.edu 37 3 180321002 180321002 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:180321002G>T ENST00000412756.2 + 3 446 c.377G>T c.(376-378)gGt>gTt p.G126V TTC14_ENST00000296015.4_Missense_Mutation_p.G126V|TTC14_ENST00000382584.4_Missense_Mutation_p.G126V NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 126 S1 motif. RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTGAGCGTGGTGATATAGTG 0.378000 43 245 4.67007e-22 7.0771e-22 0.840704 1 0 ZNF676 163223 broad.mit.edu 37 19 22363257 22363257 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:22363257T>G ENST00000397121.2 - 3 1579 c.1262A>C c.(1261-1263)tAc>tCc p.Y421S NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCACACTTGTAGGGTTTCTC 0.433000 41 141 0 0 0.864702 0 0 SYT4 6860 broad.mit.edu 37 18 40857290 40857290 + Translation_Start_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:40857290C>A ENST00000255224.3 - 0 325 SYT4_ENST00000590752.1_De_novo_Start_InFrame|SYT4_ENST00000586678.1_5'UTR NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GGAAAACTGCCTGGCTGGATT 0.552000 13 58 2.27111e-07 2.59125e-07 0.411799 1 0 AP4E1 23431 broad.mit.edu 37 15 51221213 51221213 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:51221213G>T ENST00000261842.5 + 6 656 c.550G>T c.(550-552)Gta>Tta p.V184L AP4E1_ENST00000560508.1_Missense_Mutation_p.V109L NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 184 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) CAGGGAGATTGTACGAAGAAA 0.328000 16 58 0.0332995 0.0339912 0.520397 1 0 PABPC5 140886 broad.mit.edu 37 X 90691137 90691137 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:90691137G>T ENST00000312600.3 + 2 775 c.561G>T c.(559-561)gcG>gcT p.A187A PABPC5_ENST00000373105.1_Silent_p.A23A NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 187 cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AAGAGCGGGCGGCTGAGGTCA 0.493000 21 12 8.34094e-07 9.36144e-07 0.575678 1 0 RANBP17 64901 broad.mit.edu 37 5 170720913 170720913 + Silent SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:170720913T>A ENST00000523189.1 + 26 3134 c.2970T>A c.(2968-2970)atT>atA p.I990I RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 990 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGAACACCATTGTCTTTGAAG 0.488000 T TRD@ ALL 61 137 0 0 0.870114 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242223 18242223 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:18242223G>T ENST00000377369.2 + 2 291 c.18G>T c.(16-18)aaG>aaT p.K6N SLC39A12_ENST00000377371.3_Missense_Mutation_p.K6N|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.K6N NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 6 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TCCGGACAAAGCTCTCAGTAT 0.493000 22 67 2.89027e-11 3.72379e-11 0.624587 1 0 OR4D10 390197 broad.mit.edu 37 11 59245402 59245402 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:59245402C>A ENST00000530162.1 + 1 557 c.500C>A c.(499-501)cCt>cAt p.P167H NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCCCACTCCCTTTCTGCGGA 0.493000 7 145 5.18039e-06 5.73008e-06 0.278610 1 0 GPBAR1 151306 broad.mit.edu 37 2 219127783 219127783 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:219127783G>T ENST00000522678.1 + 2 1204 c.336G>T c.(334-336)atG>atT p.M112I GPBAR1_ENST00000519574.1_Missense_Mutation_p.M112I|GPBAR1_ENST00000521462.1_Missense_Mutation_p.M112I|GPBAR1_ENST00000479077.1_Missense_Mutation_p.M112I NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 112 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCGCTACATGGCAGTCCTGA 0.652000 17 34 5.3912e-06 5.93464e-06 0.539581 1 0 C9 735 broad.mit.edu 37 5 39308356 39308356 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:39308356C>T ENST00000263408.4 - 8 1311 c.1216G>A c.(1216-1218)Gta>Ata p.V406I NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 406 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CCCCTCTTTACACAATCATCT 0.418000 24 94 0 0 0.729181 0 0 POTEC 388468 broad.mit.edu 37 18 14537970 14537970 + Missense_Mutation SNP C C T rs148283099 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:14537970C>T ENST00000358970.5 - 3 639 c.640G>A c.(640-642)Gta>Ata p.V214I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 214 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGGCATTGTACGGCCTGTCAG 0.358000 6 159 0 0 0.217242 0 0 TIMM50 92609 broad.mit.edu 37 19 39972552 39972552 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:39972552T>C ENST00000314349.4 + 2 580 c.447T>C c.(445-447)acT>acC p.T149T TIMM50_ENST00000607714.1_Silent_p.T46T|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 46 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCGGGAGCACTAAGGCGCAAG 0.632000 25 123 0 0 0.729181 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254123 30254123 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:30254123G>T ENST00000361644.2 + 5 819 c.82G>T c.(82-84)Gct>Tct p.A28S MAGEB3_ENST00000378986.1_Missense_Mutation_p.A28S NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 28 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 TCACCAGGGTGCTCAGATCAC 0.517000 16 23 1.15088e-07 1.31967e-07 0.500413 1 0 TTN 7273 broad.mit.edu 37 2 179476296 179476296 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179476296T>A ENST00000589042.1 - 269 50884 c.50660A>T c.(50659-50661)tAc>tTc p.Y16887F TTN_ENST00000591111.1_Missense_Mutation_p.Y15246F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y14319F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y7947F|TTN_ENST00000460472.2_Missense_Mutation_p.Y7822F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y8014F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15246 Fibronectin type-III 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAACATGGTATCCTATGAT 0.438000 41 135 0 0 0.840704 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28285042 28285042 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:28285042G>T ENST00000373894.3 + 8 1252 c.1061G>T c.(1060-1062)cGc>cTc p.R354L RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R306L NM_014474.2 NP_055289.2 Q92485 ASM3B_HUMAN sphingomyelin phosphodiesterase, acid-like 3B 354 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 16 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GGGACGCCGCGCTGGGAGCTC 0.632000 27 43 2.08973e-25 3.29001e-25 0.693898 1 0 OPRK1 4986 broad.mit.edu 37 8 54142037 54142037 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:54142037G>T ENST00000265572.3 - 4 1260 c.963C>A c.(961-963)acC>acA p.T321T RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.T232T|OPRK1_ENST00000520287.1_Silent_p.T321T NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 321 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.T321T(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GGCTACTGTTGGTATAGCCTA 0.517000 14 15 7.93312e-07 8.91828e-07 0.457914 1 0 PTPRC 5788 broad.mit.edu 37 1 198701448 198701448 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:198701448G>T ENST00000367376.2 + 19 2159 c.1988G>T c.(1987-1989)aGc>aTc p.S663I PTPRC_ENST00000594404.1_Missense_Mutation_p.S502I|PTPRC_ENST00000352140.3_Missense_Mutation_p.S615I|PTPRC_ENST00000442510.2_Missense_Mutation_p.S665I|PTPRC_ENST00000348564.6_Missense_Mutation_p.S504I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 663 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CGGGTGTTCAGCAAGTTTCCT 0.398000 19 83 3.5997e-14 4.8848e-14 0.624587 1 0 UBXN4 23190 broad.mit.edu 37 2 136499519 136499519 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:136499519C>G ENST00000272638.9 + 1 331 c.20C>G c.(19-21)gCc>gGc p.A7G NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 7 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TTCCAGGGCGCCATTCCGGCC 0.701000 7 23 0 0 0.307466 0 0 ZNF80 7634 broad.mit.edu 37 3 113955434 113955434 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:113955434C>A ENST00000482457.2 - 1 991 c.488G>T c.(487-489)tGc>tTc p.C163F NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 163 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) ACATTCTTTGCACCCAAAGAG 0.488000 32 190 4.65686e-17 6.53862e-17 0.788014 1 0 IKBIP 121457 broad.mit.edu 37 12 99020188 99020188 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:99020188T>C ENST00000299157.4 - 3 1027 c.654A>G c.(652-654)agA>agG p.R218R IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 219 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 CTTCTTCTTGTCTTTTTACTG 0.408000 51 120 0 0 0.870114 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891898 5891898 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr18:5891898G>A ENST00000581347.1 - 3 810 c.165C>T c.(163-165)atC>atT p.I55I TMEM200C_ENST00000383490.2_Silent_p.I55I|RP11-945C19.4_ENST00000577694.1_RNA A6NKL6 T200C_HUMAN transmembrane protein 200C 55 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CACAGAGGGCGATGAGCCCTG 0.627000 13 36 0 0 0.457914 0 0 PRDM9 56979 broad.mit.edu 37 5 23524604 23524604 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:23524604G>T ENST00000296682.3 + 10 1294 c.1112G>T c.(1111-1113)aGc>aTc p.S371I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 371 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAGTGGGGCAGCAAGTGGAAG 0.468000 HNSCC(3;0.000094) 26 87 1.7881e-09 2.19289e-09 0.729181 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236300 140236300 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:140236300G>T ENST00000307360.5 + 1 667 c.667G>T c.(667-669)Gga>Tga p.G223* PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.G223*|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATTTACCGGATCTGTTTC 0.433000 60 113 6.20203e-27 9.8545e-27 0.870114 1 0 GNG2 54331 broad.mit.edu 37 14 52433376 52433376 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:52433376G>T ENST00000335281.4 + 3 593 c.187G>T c.(187-189)Gag>Tag p.E63* GNG2_ENST00000555472.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000556766.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000553432.1_Nonsense_Mutation_p.E94*|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Nonsense_Mutation_p.E102*|GNG2_ENST00000556752.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000554736.1_Nonsense_Mutation_p.E63* NM_001243774.1 NP_001230703.1 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), gamma 2 63 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) CCCGTTTAGGGAGAAGAAGTT 0.522000 56 178 6.60958e-23 1.01504e-22 0.870114 1 0 SLC35A5 55032 broad.mit.edu 37 3 112299779 112299779 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:112299779A>G ENST00000492406.1 + 6 1098 c.815A>G c.(814-816)tAt>tGt p.Y272C SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 272 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 AGCAAACTCTATTTCTTTGGC 0.388000 24 93 0 0 0.654019 0 0 CCDC158 339965 broad.mit.edu 37 4 77283402 77283402 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:77283402C>A ENST00000388914.3 - 12 2049 c.1897G>T c.(1897-1899)Gaa>Taa p.E633* NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 633 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTCACCTTTTCCAGCTCCAAG 0.408000 7 239 0.00448238 0.00466547 0.307466 1 0 LITAF 9516 broad.mit.edu 37 16 11650502 11650502 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:11650502C>A ENST00000571688.1 - 2 315 c.85G>T c.(85-87)Gtt>Ttt p.V29F LITAF_ENST00000381810.3_Missense_Mutation_p.V29F|LITAF_ENST00000571976.1_Missense_Mutation_p.V29F|LITAF_ENST00000576036.1_Missense_Mutation_p.V29F|LITAF_ENST00000574763.1_Missense_Mutation_p.V29F|LITAF_ENST00000413364.2_Missense_Mutation_p.V29F|LITAF_ENST00000574703.1_Missense_Mutation_p.V29F|LITAF_ENST00000339430.5_Missense_Mutation_p.V29F|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000571459.1_Missense_Mutation_p.V29F|LITAF_ENST00000570904.1_Missense_Mutation_p.V29F NM_001136472.1 NP_001129944.1 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF factor 29 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1) 7 TAACTGTTAACAGCCACTGTC 0.547000 27 56 3.80469e-20 5.67816e-20 0.740014 1 0 GABRB3 2562 broad.mit.edu 37 15 26793136 26793136 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:26793136C>A ENST00000541819.2 - 10 1496 c.1394G>T c.(1393-1395)cGa>cTa p.R465L GABRB3_ENST00000400188.3_Missense_Mutation_p.R338L|GABRB3_ENST00000299267.4_Missense_Mutation_p.R409L|GABRB3_ENST00000311550.5_Missense_Mutation_p.R409L|GABRB3_ENST00000545868.1_Missense_Mutation_p.R324L P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 409 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGCCCTTCTCGAGGCATGCT 0.488000 33 93 5.91797e-21 8.90932e-21 0.760397 1 0 TTN 7273 broad.mit.edu 37 2 179605479 179605479 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179605479A>T ENST00000589042.1 - 48 12705 c.12481T>A c.(12481-12483)Ttc>Atc p.F4161I TTN_ENST00000591111.1_Missense_Mutation_p.F3844I|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.F3923I|TTN_ENST00000460472.2_Missense_Mutation_p.F3798I|TTN_ENST00000342175.6_Missense_Mutation_p.F3990I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3844 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTTGGAGAAGGTTTTCTGG 0.448000 50 158 0 0 0.870114 0 0 GFM2 84340 broad.mit.edu 37 5 74017519 74017519 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:74017519A>G ENST00000296805.3 - 21 2758 c.2301T>C c.(2299-2301)gaT>gaC p.D767D GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Silent_p.D767D|GFM2_ENST00000345239.2_Silent_p.D720D NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 767 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GTGTATTTTGATCTTGAGGAT 0.383000 25 72 0 0 0.717897 0 0 NFAT5 10725 broad.mit.edu 37 16 69726060 69726060 + Missense_Mutation SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:69726060A>G ENST00000349945.1 + 14 3602 c.2050A>G c.(2050-2052)Aat>Gat p.N684D NFAT5_ENST00000567239.1_Missense_Mutation_p.N777D|NFAT5_ENST00000354436.2_Missense_Mutation_p.N760D|NFAT5_ENST00000566899.1_Missense_Mutation_p.N684D|NFAT5_ENST00000432919.1_Missense_Mutation_p.N778D|NFAT5_ENST00000393742.2_Missense_Mutation_p.N684D NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 760 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GATTTCATCAAATATTTTTCC 0.443000 4 65 0 0 0.150653 0 0 FNDC1 84624 broad.mit.edu 37 6 159660563 159660563 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:159660563C>A ENST00000297267.9 + 14 4395 c.4195C>A c.(4195-4197)Ccc>Acc p.P1399T FNDC1_ENST00000340366.6_Missense_Mutation_p.P1336T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1399 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGAAGGGACCCCCGTGGTGAG 0.483000 3 11 0.004672 0.00484087 0.115264 1 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29230485 29230485 + RNA SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:29230485G>A ENST00000441381.1 + 0 79 ATTCCTTAGTGGGATGGGTTC 0.393000 17 44 0 0 0.557998 0 0 SCO2 9997 broad.mit.edu 37 22 50962505 50962505 + Silent SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:50962505C>G ENST00000543927.1 - 2 542 c.336G>C c.(334-336)cgG>cgC p.R112R SCO2_ENST00000535425.1_Silent_p.R112R|SCO2_ENST00000395693.3_Silent_p.R112R|SCO2_ENST00000252785.3_Silent_p.R112R NM_001169109.1 NP_001162580.1 O43819 SCO2_HUMAN SCO2 cytochrome c oxidase assembly protein 112 Thioredoxin. cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding endometrium(1)|lung(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCAGCGAGCCCGGCCTCTGT 0.632000 10 38 0 0 0.335167 0 0 NPPB 4879 broad.mit.edu 37 1 11918861 11918861 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:11918861C>A ENST00000376468.3 - 1 127 c.30G>T c.(28-30)gcG>gcT p.A10A NM_002521.2 NP_002512.1 P16860 ANFB_HUMAN natriuretic peptide B 10 body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation extracellular space diuretic hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) GGAGCAGGAGCGCCCGGGAAG 0.652000 37 60 2.40579e-17 3.39874e-17 0.819951 1 0 TCN1 6947 broad.mit.edu 37 11 59622211 59622211 + Silent SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:59622211T>C ENST00000257264.3 - 7 1139 c.1035A>G c.(1033-1035)acA>acG p.T345T TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 345 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGTGAAATATGTTTCATTGA 0.408000 9 145 0 0 0.307466 0 0 KIF13B 23303 broad.mit.edu 37 8 29025078 29025078 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:29025078T>A ENST00000524189.1 - 11 1008 c.970A>T c.(970-972)Acc>Tcc p.T324S KIF13B_ENST00000521515.1_Missense_Mutation_p.T324S NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 324 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACCATGGCGGTCTTGCTGTTA 0.463000 50 66 0 0 0.870114 0 0 OR51M1 390059 broad.mit.edu 37 11 5411012 5411012 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:5411012C>T ENST00000328611.3 + 1 406 c.384C>T c.(382-384)ctC>ctT p.L128L AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 128 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTGCTCCTCATGATGTCCT 0.488000 82 307 0 0 0.870114 0 0 TLL1 7092 broad.mit.edu 37 4 166910618 166910618 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:166910618C>A ENST00000061240.2 + 2 902 c.255C>A c.(253-255)ccC>ccA p.P85P TLL1_ENST00000513213.1_Silent_p.P85P|TLL1_ENST00000507499.1_Silent_p.P85P NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 85 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CGCAGAACCCCTTTGGAAACC 0.328000 46 131 1.07234e-20 1.60735e-20 0.870114 1 0 TIGD5 84948 broad.mit.edu 37 8 144681057 144681057 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:144681057G>T ENST00000321385.3 + 1 984 c.837G>T c.(835-837)ctG>ctT p.L279L TIGD5_ENST00000504548.2_Silent_p.L328L E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 328 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCCCGCTGCTGCGGGGCTGGT 0.697000 6 12 0.000157383 0.000168923 0.278610 1 0 IL36B 27177 broad.mit.edu 37 2 113788710 113788710 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:113788710A>G ENST00000259213.4 - 3 143 c.36T>C c.(34-36)taT>taC p.Y12Y IL36B_ENST00000327407.2_Silent_p.Y12Y NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 12 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CACGAATAGCATAGGATTTGG 0.463000 15 44 0 0 0.500413 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378419 31378419 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:31378419C>T ENST00000297142.3 - 2 786 c.464G>A c.(463-465)aGa>aAa p.R155K NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 155 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CAGATCTGGTCTCTTGCCGAT 0.458000 19 88 0 0 0.592651 0 0 NAV3 89795 broad.mit.edu 37 12 78511909 78511909 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:78511909G>T ENST00000397909.2 + 14 3045 c.2872G>T c.(2872-2874)Ggt>Tgt p.G958C NAV3_ENST00000228327.6_Missense_Mutation_p.G958C|NAV3_ENST00000266692.7_Missense_Mutation_p.G958C|NAV3_ENST00000536525.2_Missense_Mutation_p.G958C Q8IVL0 NAV3_HUMAN neuron navigator 3 958 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TGGGGATGCTGGTGGCAAGTG 0.522000 HNSCC(70;0.22) 35 138 2.40579e-17 3.39874e-17 0.819951 1 0 NCLN 56926 broad.mit.edu 37 19 3207205 3207205 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:3207205G>A ENST00000246117.4 + 13 1940 c.1509G>A c.(1507-1509)gaG>gaA p.E503E NCLN_ENST00000590671.1_Silent_p.E429E NM_020170.3 NP_064555.2 Q969V3 NCLN_HUMAN nicalin 503 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) GGGACCCAGAGTTTGTCTTCT 0.567000 38 114 0 0 0.812448 0 0 OR5L2 26338 broad.mit.edu 37 11 55594988 55594988 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55594988G>T ENST00000378397.1 + 1 294 c.294G>T c.(292-294)atG>atT p.M98I NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCT 0.468000 HNSCC(27;0.073) 21 129 3.28513e-13 4.35485e-13 0.667858 1 0 DDHD1 80821 broad.mit.edu 37 14 53518577 53518577 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:53518577T>C ENST00000323669.5 - 12 2505 c.2506A>G c.(2506-2508)Aaa>Gaa p.K836E DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron NM_001160148.1 NP_001153620.1 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 836 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GCATTATCTTTATTCTGCATT 0.333000 2 14 0 0 0.115264 0 0 LRP1 4035 broad.mit.edu 37 12 57572180 57572180 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:57572180G>A ENST00000243077.3 + 27 4866 c.4400G>A c.(4399-4401)gGc>gAc p.G1467D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1467 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGGCTCTGGCCACATGGAG 0.582000 16 54 0 0 0.479597 0 0 SH3BP5 9467 broad.mit.edu 37 3 15300345 15300345 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:15300345G>A ENST00000383791.3 - 7 1102 c.882C>T c.(880-882)gcC>gcT p.A294A SH3BP5_ENST00000426925.1_Silent_p.A137A|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.A137A|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.A137A NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 294 Ser-rich. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 TACCAGAAATGGCATCAGGCT 0.572000 18 37 0 0 0.520397 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963725 88963725 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:88963725C>A ENST00000333190.4 + 4 2038 c.1429C>A c.(1429-1431)Cca>Aca p.P477T NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 477 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGGCTGCAACCCACTGTATTT 0.428000 HNSCC(36;0.09) 56 43 4.33383e-22 6.58207e-22 0.870114 1 0 C2CD5 9847 broad.mit.edu 37 12 22676469 22676469 + Nonsense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:22676469C>A ENST00000333957.4 - 7 946 c.691G>T c.(691-693)Gag>Tag p.E231* C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E231*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E33*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E231* NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 p.E231*(1)|p.E33*(1) AACCCAGACTCGCCCTCCAGA 0.473000 16 49 2.31682e-05 2.51415e-05 0.479597 1 0 HCG9 10255 broad.mit.edu 37 6 29943054 29943054 + RNA SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:29943054C>T ENST00000376800.3 + 0 166 AGCTCCTGGTCCCGAAAAAAG 0.637000 6 18 0 0 0.217242 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971585 79971585 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:79971585G>T ENST00000466387.1 + 7 899 c.175G>T c.(175-177)Gta>Tta p.V59L CTNNA2_ENST00000361291.4_Missense_Mutation_p.V93L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V59L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V59L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 59 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GAAAGCCCATGTACTAGCTGC 0.433000 13 38 1.41608e-15 1.95243e-15 0.435327 1 0 NR5A2 2494 broad.mit.edu 37 1 200017865 200017865 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:200017865G>T ENST00000367362.3 + 5 1275 c.1029G>T c.(1027-1029)ggG>ggT p.G343G NR5A2_ENST00000544748.1_Silent_p.G271G|NR5A2_ENST00000236914.3_Silent_p.G297G NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 343 Ligand-binding. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GCACCTTTGGGCTTATGTGCA 0.478000 42 137 4.14194e-30 6.67366e-30 0.859065 1 0 ZNF195 7748 broad.mit.edu 37 11 3381036 3381036 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:3381036T>C ENST00000354599.6 - 4 1090 c.986A>G c.(985-987)cAg>cGg p.Q329R ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q333R|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q401R|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q378R|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q333R|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q382R NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CTCATTTCTCTGGTGTTTGGA 0.408000 81 239 0 0 0.870114 0 0 IMPG1 3617 broad.mit.edu 37 6 76715168 76715168 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:76715168G>T ENST00000369950.3 - 10 1160 c.971C>A c.(970-972)tCt>tAt p.S324Y IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 324 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GGAATCAAAAGACAGGAGGTC 0.453000 26 108 1.1804e-14 1.60814e-14 0.667858 1 0 CLSTN2 64084 broad.mit.edu 37 3 140281733 140281733 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:140281733C>A ENST00000458420.3 + 14 2483 c.2293C>A c.(2293-2295)Cgg>Agg p.R765R NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 765 R -> Q (in a colorectal cancer sample; somatic mutation). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTTGAGGCCCGGCGTTTCCG 0.572000 HNSCC(16;0.037) 11 72 3.86212e-05 4.16479e-05 0.361761 1 0 CACNG6 59285 broad.mit.edu 37 19 54502939 54502939 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:54502939C>T ENST00000252729.2 + 3 1048 c.458C>T c.(457-459)gCc>gTc p.A153V CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 153 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GCAGTCATGGCCTTGGGGTGC 0.562000 118 347 0 0 0.870114 0 0 TBCCD1 55171 broad.mit.edu 37 3 186272075 186272075 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:186272075C>A ENST00000424280.1 - 6 1991 c.1512G>T c.(1510-1512)tgG>tgT p.W504C TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Missense_Mutation_p.W408C|TBCCD1_ENST00000338733.5_Missense_Mutation_p.W504C NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 504 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CAGTTTTCTGCCAGATCTGTA 0.408000 45 246 1.41504e-22 2.16825e-22 0.859065 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95514982 95514982 + RNA SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:95514982T>A ENST00000432432.2 - 0 675 NR_040113.1 ACTTGCTTTCTTTTTCAATAA 0.323000 59 153 0 0 0.870114 0 0 DZANK1 55184 broad.mit.edu 37 20 18377178 18377178 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:18377178T>A ENST00000357236.4 - 16 1866 c.1207A>T c.(1207-1209)Act>Tct p.T403S DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.T517S|DZANK1_ENST00000377630.5_Missense_Mutation_p.T350S|DZANK1_ENST00000329494.5_Missense_Mutation_p.T519S Q9NVP4 CT012_HUMAN double zinc ribbon and ankyrin repeat domains 1 344 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 TCGTGGACAGTAGCAGAGATA 0.383000 58 90 0 0 0.870114 0 0 MYO16 23026 broad.mit.edu 37 13 109472729 109472729 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:109472729C>A ENST00000356711.2 + 8 972 c.846C>A c.(844-846)caC>caA p.H282Q MYO16_ENST00000357550.2_Missense_Mutation_p.H282Q|MYO16_ENST00000251041.5_Missense_Mutation_p.H282Q NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 282 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAAACCCACACCTCGTGAACT 0.438000 4 18 0.000602214 0.000638403 0.184627 1 0 ASTN1 460 broad.mit.edu 37 1 176927497 176927497 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:176927497C>T ENST00000367654.2 - 10 1757 c.1744G>A c.(1744-1746)Gat>Aat p.D582N ASTN1_ENST00000361833.2_Missense_Mutation_p.D574N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574N|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 582 cell migration|neuron cell-cell adhesion integral to membrane p.D574H(2) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCACAGCATCCTCCATCACA 0.532000 13 49 0 0 0.500413 0 0 ZNF208 7757 broad.mit.edu 37 19 22155424 22155424 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:22155424G>T ENST00000397126.4 - 4 2560 c.2412C>A c.(2410-2412)ccC>ccA p.P804P ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CACATTTGTAGGGTTTCTCAT 0.363000 29 89 9.80776e-20 1.45739e-19 0.706142 1 0 IGHV3-53 28420 broad.mit.edu 37 14 107048842 107048842 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:107048842G>T ENST00000390627.2 - 0 398 CCCTTCCCTGGAGCCTGGCGG 0.577000 37 352 9.40368e-32 1.53675e-31 0.870114 1 0 SLITRK4 139065 broad.mit.edu 37 X 142716466 142716466 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:142716466C>A ENST00000381779.4 - 2 2684 c.2459G>T c.(2458-2460)aGt>aTt p.S820I SLITRK4_ENST00000338017.4_Missense_Mutation_p.S820I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S820I NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 820 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GTCAGGGGAACTCTGCAGTTT 0.393000 45 42 3.86361e-14 5.2326e-14 0.870114 1 0 SEC22B 9554 broad.mit.edu 37 1 145115999 145115999 + RNA SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:145115999C>T ENST00000453618.1 + 0 1085 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GAACTTCTGCCTCTAAAGACC 0.423000 5 65 0 0 0.184627 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170184 20170184 + RNA SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:20170184C>A ENST00000338912.5 - 0 87 GGCTTCTTCACCTCAGCCCCA 0.572000 24 69 6.44725e-10 8.02117e-10 0.624587 1 0 RCOR1 23186 broad.mit.edu 37 14 103188649 103188649 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:103188649G>A ENST00000262241.6 + 11 1541 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K RCOR1_ENST00000570597.1_Missense_Mutation_p.E436K NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 436 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 AGTTTTACAAGAATGGGAGGC 0.428000 47 135 0 0 0.864702 0 0 ABCB5 340273 broad.mit.edu 37 7 20762764 20762764 + Silent SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:20762764C>T ENST00000404938.2 + 21 3199 c.2547C>T c.(2545-2547)gcC>gcT p.A849A ABCB5_ENST00000258738.6_Silent_p.A404A NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 404 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CAGTACTTGCCGTGACAGGAA 0.388000 33 94 0 0 0.760397 0 0 PAM 5066 broad.mit.edu 37 5 102286460 102286460 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:102286460G>T ENST00000438793.3 + 11 1311 c.841G>T c.(841-843)Ggt>Tgt p.G281C PAM_ENST00000346918.2_Missense_Mutation_p.G281C|PAM_ENST00000455264.2_Missense_Mutation_p.G281C|PAM_ENST00000348126.2_Missense_Mutation_p.G281C|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.G281C|PAM_ENST00000274392.9_Missense_Mutation_p.G184C NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 281 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGTAAGTTTTGGTGACCTACT 0.378000 28 56 3.67414e-24 5.71902e-24 0.760397 1 0 CPT1B 1375 broad.mit.edu 37 22 51009711 51009711 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:51009711T>G ENST00000360719.2 - 15 1888 c.1751A>C c.(1750-1752)aAg>aCg p.K584T CPT1B_ENST00000405237.3_Missense_Mutation_p.K584T|CPT1B_ENST00000395650.2_Missense_Mutation_p.K584T|CPT1B_ENST00000312108.7_Missense_Mutation_p.K584T|CPT1B_ENST00000457250.1_Missense_Mutation_p.K550T|CPT1B_ENST00000440709.1_Missense_Mutation_p.K503T|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.K379T NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 584 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CAGGCAGAACTTACCCCTGTC 0.602000 10 41 0 0 0.335167 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131825 82131825 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:82131825G>A ENST00000199936.4 + 5 1141 c.948G>A c.(946-948)aaG>aaA p.K316K RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 316 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TAGCCAGCAAGGACTTCTCTC 0.542000 39 73 0 0 0.812448 0 0 KDR 3791 broad.mit.edu 37 4 55968085 55968085 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:55968085C>T ENST00000263923.4 - 15 2540 c.2245G>A c.(2245-2247)Gag>Aag p.E749K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 749 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAAAATGCCTCCACTTTTGCA 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 77 80 0 0 0.870114 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102474116 102474116 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:102474116G>A ENST00000321521.9 + 5 1003 c.430G>A c.(430-432)Gaa>Aaa p.E144K PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E144K|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E144K O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 144 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCTTCAAGCTGAAGGTATTTT 0.338000 16 47 0 0 0.539581 0 0 PLAG1 5324 broad.mit.edu 37 8 57079634 57079634 + Missense_Mutation SNP C C G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr8:57079634C>G ENST00000316981.3 - 5 1150 c.671G>C c.(670-672)cGa>cCa p.R224P PLAG1_ENST00000429357.2_Missense_Mutation_p.R224P|PLAG1_ENST00000423799.2_Missense_Mutation_p.R142P NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 224 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTGATCCTTTCGCCCAAATCT 0.478000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 36 46 0 0 0.812448 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846286 47846286 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:47846286G>T ENST00000339488.4 - 3 2327 c.2294C>A c.(2293-2295)tCt>tAt p.S765Y NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 765 integral to membrane hedgehog receptor activity AATAAGAAAAGAAGTAACATT 0.443000 12 36 0.000978159 0.00102901 0.387290 1 0 DNAH9 1770 broad.mit.edu 37 17 11833273 11833273 + Missense_Mutation SNP A A T rs141342607 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:11833273A>T ENST00000262442.3 + 63 12036 c.11968A>T c.(11968-11970)Atg>Ttg p.M3990L DNAH9_ENST00000396001.2_Missense_Mutation_p.M302L|DNAH9_ENST00000454412.2_Intron NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3990 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGGGTCTTCATGAGTGCAGA 0.582000 11 21 0 0 0.361761 0 0 TTN 7273 broad.mit.edu 37 2 179635394 179635394 + Missense_Mutation SNP T T C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179635394T>C ENST00000589042.1 - 35 8349 c.8125A>G c.(8125-8127)Att>Gtt p.I2709V TTN_ENST00000591111.1_Missense_Mutation_p.I2709V|TTN_ENST00000342992.6_Missense_Mutation_p.I2709V|TTN_ENST00000359218.5_Missense_Mutation_p.I2663V|TTN_ENST00000460472.2_Missense_Mutation_p.I2663V|TTN_ENST00000342175.6_Missense_Mutation_p.I2663V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I2709V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2447 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCTTCTTAATTTTGACAGCT 0.393000 49 129 0 0 0.870114 0 0 BEST3 144453 broad.mit.edu 37 12 70049538 70049538 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:70049538C>A ENST00000330891.5 - 10 1382 c.1156G>T c.(1156-1158)Ggc>Tgc p.G386C BEST3_ENST00000488961.1_Missense_Mutation_p.G173C|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.G280C NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 386 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGCCGATGGCCATGCTTCTCA 0.547000 35 117 2.75727e-19 4.04478e-19 0.804634 1 0 WNT2 7472 broad.mit.edu 37 7 116955239 116955239 + Missense_Mutation SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:116955239A>T ENST00000265441.3 - 3 773 c.474T>A c.(472-474)agT>agA p.S158R AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 158 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CAATGTTATCACTGCAGCCAC 0.473000 80 109 0 0 0.870114 0 0 IGHA2 3494 broad.mit.edu 37 14 106054572 106054572 + RNA SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:106054572G>T ENST00000390539.2 - 0 160 CTGGCTAGGTGGGAAGTTTCT 0.637000 12 56 1.05317e-09 1.29853e-09 0.457914 1 0 TTN 7273 broad.mit.edu 37 2 179603084 179603084 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:179603084G>A ENST00000589042.1 - 49 14320 c.14096C>T c.(14095-14097)gCc>gTc p.A4699V TTN_ENST00000591111.1_Missense_Mutation_p.A4382V|TTN_ENST00000342992.6_Missense_Mutation_p.A3455V|TTN_ENST00000359218.5_Missense_Mutation_p.A4461V|TTN_ENST00000460472.2_Missense_Mutation_p.A4336V|TTN_ENST00000342175.6_Missense_Mutation_p.A4528V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4382 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATCACTGGGGCAGCTGCAAA 0.453000 11 43 0 0 0.435327 0 0 CFB 629 broad.mit.edu 37 6 31911569 31911569 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:31911569G>T ENST00000456570.1 + 10 1312 c.1257G>T c.(1255-1257)aaG>aaT p.K419N CFB_ENST00000556679.1_Missense_Mutation_p.K419N|C2_ENST00000469372.1_Missense_Mutation_p.K326N|C2_ENST00000299367.5_Missense_Mutation_p.K572N|C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.K343N|C2_ENST00000442278.2_Missense_Mutation_p.K440N|C2_ENST00000452323.2_Missense_Mutation_p.K358N P00751 CFAB_HUMAN complement factor B 587 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGAAAGTAAAGATGTCCACCC 0.547000 35 118 2.87052e-16 3.98169e-16 0.812448 1 0 CUL3 8452 broad.mit.edu 37 2 225400280 225400280 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:225400280C>T ENST00000264414.4 - 3 681 c.343G>A c.(343-345)Gct>Act p.A115T CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.A91T|CUL3_ENST00000409096.1_Missense_Mutation_p.A91T|CUL3_ENST00000344951.4_Missense_Mutation_p.A49T NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 115 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATCACCATAGCTGTTTGATGA 0.343000 13 35 0 0 0.435327 0 0 GREB1 9687 broad.mit.edu 37 2 11718542 11718542 + Nonsense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:11718542G>T ENST00000381486.2 + 6 1057 c.757G>T c.(757-759)Gga>Tga p.G253* GREB1_ENST00000381483.2_Nonsense_Mutation_p.G253*|GREB1_ENST00000389825.3_Nonsense_Mutation_p.G143*|GREB1_ENST00000234142.5_Nonsense_Mutation_p.G253*|GREB1_ENST00000263834.5_Nonsense_Mutation_p.G253* NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 253 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CATCCTGATGGGAGCTCAGCA 0.622000 24 63 1.10513e-12 1.45657e-12 0.624587 1 0 UBR2 23304 broad.mit.edu 37 6 42613293 42613293 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:42613293G>A ENST00000372899.1 + 21 2632 c.2374G>A c.(2374-2376)Gct>Act p.A792T UBR2_ENST00000372901.1_Missense_Mutation_p.A792T|UBR2_ENST00000372883.3_Missense_Mutation_p.A296T NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 792 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CAAGCCTATGGCTCATAGTGA 0.373000 28 82 0 0 0.717897 0 0 DMP1 1758 broad.mit.edu 37 4 88583240 88583240 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:88583240G>A ENST00000339673.6 + 6 409 c.310G>A c.(310-312)Gac>Aac p.D104N RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D88N NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 104 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) TGATAAAGATGACGATGAAGA 0.502000 8 27 0 0 0.278610 0 0 OR8K3 219473 broad.mit.edu 37 11 56085893 56085893 + Silent SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:56085893C>A ENST00000312711.1 + 1 111 c.111C>A c.(109-111)atC>atA p.I37I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCTATGTGATCTCAGTGATGG 0.433000 65 119 5.08636e-23 7.84623e-23 0.870114 1 0 CPAMD8 27151 broad.mit.edu 37 19 17015051 17015051 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:17015051G>T ENST00000443236.1 - 32 4408 c.4377C>A c.(4375-4377)ggC>ggA p.G1459G NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1412 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGGAGGAGAAGCCCCCAAGTG 0.652000 6 18 5.9392e-07 6.70964e-07 0.217242 1 0 RHOT2 89941 broad.mit.edu 37 16 720765 720765 + Missense_Mutation SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr16:720765G>C ENST00000315082.4 + 9 745 c.631G>C c.(631-633)Gct>Cct p.A211P RHOT2_ENST00000569943.2_Intron NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 211 EF-hand 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) AGAGCTCAACGCTTTCCAGGT 0.662000 19 39 0 0 0.557998 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543323 182543323 + Missense_Mutation SNP T T G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:182543323T>G ENST00000295108.3 - 2 722 c.265A>C c.(265-267)Aag>Cag p.K89Q NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 89 Poly-Lys. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GTCATCTTCTTCTTTTTGGGG 0.567000 10 37 0 0 0.361761 0 0 OR5D18 219438 broad.mit.edu 37 11 55587970 55587970 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55587970C>A ENST00000333976.4 + 1 885 c.865C>A c.(865-867)Ctg>Atg p.L289M NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GTTGAATCCCCTGATCTACAG 0.458000 7 70 8.12818e-05 8.7378e-05 0.248553 1 0 MYH1 4619 broad.mit.edu 37 17 10402013 10402013 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:10402013C>T ENST00000226207.5 - 30 4205 c.4111G>A c.(4111-4113)Gag>Aag p.E1371K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1371 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGGCAACCTCACTGTTGGCC 0.547000 49 109 0 0 0.870114 0 0 GALNTL6 442117 broad.mit.edu 37 4 173269706 173269706 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr4:173269706C>A ENST00000506823.1 + 5 1076 c.419C>A c.(418-420)cCa>cAa p.P140Q GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.P123Q NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 140 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GAAAGGCTGCCAAACACCAGC 0.403000 40 105 9.14704e-12 1.18963e-11 0.840704 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29414435 29414435 + Silent SNP A A T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:29414435A>T ENST00000378993.1 + 4 1096 c.423A>T c.(421-423)ggA>ggT p.G141G IL1RAPL1_ENST00000302196.4_Silent_p.G141G NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 141 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ATGACACTGGACTCTGCTATA 0.388000 35 26 0 0 0.796494 0 0 PLOD2 5352 broad.mit.edu 37 3 145799596 145799596 + Missense_Mutation SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:145799596C>A ENST00000282903.5 - 12 1464 c.1287G>T c.(1285-1287)tgG>tgT p.W429C PLOD2_ENST00000494950.1_Missense_Mutation_p.W374C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.W89C|PLOD2_ENST00000360060.3_Missense_Mutation_p.W429C NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 429 protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TCAATGCTCCCCAGAAATTGG 0.378000 15 106 2.32078e-09 2.82102e-09 0.479597 1 0 ARHGAP12 94134 broad.mit.edu 37 10 32141445 32141445 + Splice_Site SNP C C A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr10:32141445C>A ENST00000375250.5 - 6 1411 c.1170_splice c.e6+1 p.K390_splice ARHGAP12_ENST00000375245.4_Splice_Site_p.K343_splice|ARHGAP12_ENST00000344936.2_Splice_Site_p.K390_splice|ARHGAP12_ENST00000396144.4_Splice_Site_p.K390_splice|ARHGAP12_ENST00000311380.4_Splice_Site_p.K343_splice NM_001270696.1 NP_001257625.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 390 WW 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GGTTTATTACCTTTGGCAATT 0.348000 44 80 5.2432e-18 7.51526e-18 0.870114 1 0 PLXNA2 5362 broad.mit.edu 37 1 208390886 208390886 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr1:208390886C>T ENST00000367033.3 - 2 1139 c.382G>A c.(382-384)Gcc>Acc p.A128T NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 128 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CTCCCACAGGCCAGCAGGCGG 0.587000 34 133 0 0 0.827153 0 0 OR5L1 219437 broad.mit.edu 37 11 55579236 55579236 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:55579236G>T ENST00000333973.2 + 1 383 c.294G>T c.(292-294)atG>atT p.M98I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M98_V99>IM(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCT 0.453000 29 251 3.78316e-11 4.85599e-11 0.819951 1 0 AGAP2 116986 broad.mit.edu 37 12 58125676 58125676 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:58125676G>T ENST00000257897.3 - 8 946 c.861C>A c.(859-861)ctC>ctA p.L287L AGAP2_ENST00000547588.1_Silent_p.L623L NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 623 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CCTCGGCTCGGAGCTCCCGGT 0.612000 4 14 0.150653 0.152202 0.150653 1 0 MGAM 8972 broad.mit.edu 37 7 141754672 141754672 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:141754672G>T ENST00000475668.2 + 27 3332 c.3278G>T c.(3277-3279)gGg>gTg p.G1093V MGAM_ENST00000549489.2_Missense_Mutation_p.G1093V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1093 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATCCATTTGGGATTGAAATT 0.493000 67 104 1.77791e-30 2.87137e-30 0.870114 1 0 SYNE1 23345 broad.mit.edu 37 6 152708424 152708424 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:152708424T>A ENST00000367255.5 - 54 8871 c.8270A>T c.(8269-8271)gAa>gTa p.E2757V SYNE1_ENST00000341594.5_Missense_Mutation_p.E2796V|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2764V|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2764V|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2757V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2757 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TAAGGGATGTTCTATTTTTTG 0.458000 HNSCC(10;0.0054) 41 145 0 0 0.827153 0 0 MFSD5 84975 broad.mit.edu 37 12 53647566 53647566 + Missense_Mutation SNP C C T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:53647566C>T ENST00000534842.1 + 2 1415 c.1268C>T c.(1267-1269)tCc>tTc p.S423F MFSD5_ENST00000329548.4_Missense_Mutation_p.S316F NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 316 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CACCTGCTGTCCCTTGCTGTG 0.542000 42 105 0 0 0.847076 0 0 RB1 5925 broad.mit.edu 37 13 49033970 49033970 + Splice_Site SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr13:49033970G>T ENST00000267163.4 + 20 2244 c.e20+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 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.0?(15)|p.?(13) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 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) TTTGGACCAAGTAAGAAAATC 0.393000 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) 9 27 7.48243e-07 8.42539e-07 0.335167 1 0 LRFN5 145581 broad.mit.edu 37 14 42356187 42356187 + Missense_Mutation SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:42356187G>A ENST00000554171.1 + 5 2791 c.359G>A c.(358-360)aGt>aAt p.S120N LRFN5_ENST00000554120.1_Missense_Mutation_p.S120N|LRFN5_ENST00000298119.4_Missense_Mutation_p.S120N Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 120 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATATGTTCAGTGGTCTTTCC 0.373000 HNSCC(30;0.082) 27 106 0 0 0.693898 0 0 KCNA4 3739 broad.mit.edu 37 11 30033431 30033431 + Silent SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:30033431G>T ENST00000328224.6 - 2 2028 c.795C>A c.(793-795)gcC>gcA p.A265A NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 265 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ACTTCAACAGGGCCTCCTCCC 0.488000 40 103 1.04594e-18 1.51496e-18 0.819951 1 0 CCNT2 905 broad.mit.edu 37 2 135711427 135711427 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr2:135711427delG ENST00000264157.5 + 9 1432 c.1402delG c.(1402-1404)ggfs p.G468fs CCNT2_ENST00000295238.6_Frame_Shift_Del_p.G468fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.G293fs NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 468 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) GCACAAACAAGGGCAGTCACA 0.388 13 71 --- --- --- --- CEP70 80321 broad.mit.edu 37 3 138289944 138289944 + Frame_Shift_Del DEL C C - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:138289944delC ENST00000264982.3 - 5 482 c.216delG c.(214-216)ttfs p.L73fs CEP70_ENST00000542237.1_Frame_Shift_Del_p.L53fs|CEP70_ENST00000481834.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Frame_Shift_Del_p.L73fs NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 73 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 CTTCCACCAACAATTTCAAAT 0.303 9 75 --- --- --- --- PLSCR5 389158 broad.mit.edu 37 3 146307593 146307593 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr3:146307593delG ENST00000443512.1 - 6 1627 c.624delC c.(622-624)acfs p.T208fs PLSCR5_ENST00000492200.1_Frame_Shift_Del_p.T208fs|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Frame_Shift_Del_p.T196fs NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 208 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TTTCATTAATGGTTTTCACCT 0.318 22 138 --- --- --- --- SLC12A2 6558 broad.mit.edu 37 5 127510346 127510348 + In_Frame_Del DEL ATT ATT - rs149957408 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr5:127510346_127510348delATT ENST00000262461.2 + 20 3106_3108 c.2917_2919delATT c.(2917-2919)del p.I973del SLC12A2_ENST00000343225.4_In_Frame_Del_p.I973del NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 973 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGAAAAACCAATTACACACAAAG 0.281 16 39 --- --- --- --- SCAND3 114821 broad.mit.edu 37 6 28539885 28539886 + Frame_Shift_Ins INS - - A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:28539885_28539886insA ENST00000452236.2 - 4 4397_4398 c.3780_3781insT c.(3778-3783)ctctgafs p.*1261fs NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1261 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gcaatctcagcaagctcaggat 0.366 19 83 --- --- --- --- TULP4 56995 broad.mit.edu 37 6 158914657 158914658 + Frame_Shift_Del DEL CT CT - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr6:158914657_158914658delCT ENST00000367097.3 + 10 3041_3042 c.1684_1685delCT c.(1684-1686)cfs p.L562fs TULP4_ENST00000367094.2_Frame_Shift_Del_p.L562fs NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 562 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TGCTCAGGAGCTCTCCCGGTCC 0.649 24 63 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44736099 44736100 + Frame_Shift_Del DEL AC AC - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:44736099_44736100delAC ENST00000222673.5 + 14 1885_1886 c.1843_1844delAC c.(1843-1845)afs p.T615fs OGDH_ENST00000449767.1_Frame_Shift_Del_p.T611fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.T626fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.T630fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.T465fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.T566fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 615 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GGATATTCTGACACACATCGGG 0.545 21 60 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66774209 66774215 + RNA DEL TACCTGT TACCTGT - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr7:66774209_66774215delTACCTGT ENST00000416602.2 + 0 567 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) TCTTCTTTCCTACCTGTGTCTTGGCTC 0.449 10 18 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974693 21974693 + Frame_Shift_Del DEL C C - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:21974693delC ENST00000304494.5 - 1 404 c.134delG c.(133-135)gtfs p.G45fs CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 45 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.G45fs*8(3)|p.G45D(2)|p.0(1)|p.V28_V51del(1)|p.G45del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGCCTCCGACCGTAACTATT 0.687 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 56 100 --- --- --- --- LOC101928381 101928381 broad.mit.edu 37 9 70117581 70117581 + RNA DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:70117581delG ENST00000588215.1 - 0 82 GGTCTTCAGAGGTTTACCCTC 0.423 2 4 --- --- --- --- LOC105376072 105376072 broad.mit.edu 37 9 71225401 71225401 + RNA DEL T T - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:71225401delT ENST00000413269.2 + 0 460 ACTCATTTACTTTTGCTCCCA 0.393 11 32 --- --- --- --- RPL12 6136 broad.mit.edu 37 9 130210254 130210255 + Frame_Shift_Del DEL TC TC - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr9:130210254_130210255delTC ENST00000361436.5 - 6 480_481 c.393_394delGA c.(391-396)gatcfs p.EI131fs RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Frame_Shift_Del_p.EI98fs NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 131 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 GTCCCCAGGATCTCTTTAATGG 0.505 12 92 --- --- --- --- BDNF-AS 497258 broad.mit.edu 37 11 27581265 27581266 + RNA INS - - GT rs72253295 by1000genomes TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr11:27581265_27581266insGT ENST00000499008.3 + 0 144 BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA NR_002832.2 TTCATTTGGCAgtgtgtgtgtg 0.465 3 2 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104106206 104106206 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr12:104106206delG ENST00000388887.2 + 41 4600 c.4396delG c.(4396-4398)ggfs p.G1466fs NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1466 EGF-like 11. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G1466R(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCAAGGAAACGGGACCATCTG 0.512 35 97 --- --- --- --- OR4K14 122740 broad.mit.edu 37 14 20482615 20482616 + Frame_Shift_Ins INS - - A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:20482615_20482616insA ENST00000305045.2 - 1 736_737 c.737_738insT c.(736-738)agtfs p.S246fs NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GCGTCACTACCATGATATGTGC 0.490 9 33 --- --- --- --- TRAV12-2 28673 broad.mit.edu 37 14 22356461 22356461 + RNA DEL C C - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr14:22356461delC ENST00000390437.2 + 0 224 GGAGCCATTGCCTCTCTCAAC 0.493 29 69 --- --- --- --- FES 2242 broad.mit.edu 37 15 91436556 91436557 + Frame_Shift_Ins INS - - C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr15:91436556_91436557insC ENST00000328850.3 + 16 2099_2100 c.1957_1958insC c.(1957-1959)ccgfs p.P653fs FES_ENST00000444422.2_Frame_Shift_Ins_p.P583fs|FES_ENST00000394300.3_Frame_Shift_Ins_p.P595fs|FES_ENST00000394302.1_Frame_Shift_Ins_p.P512fs|FES_ENST00000414248.2_Frame_Shift_Ins_p.P525fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.P525fs NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 653 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CACGGAGGGGGCCCGCCTGCGG 0.673 7 24 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578474 7578474 + Frame_Shift_Del DEL C C - rs137852790 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:7578474delC ENST00000420246.2 - 5 588 c.456delG c.(454-456)ccfs p.P153fs TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 153 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P153fs*28(9)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P153fs*16(1)|p.P151_V173del23(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGTGCCGGGCGGGGGTGTGG 0.612 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 52 --- --- --- --- MLLT6 4302 broad.mit.edu 37 17 36871978 36871979 + Frame_Shift_Ins INS - - G rs142342422 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr17:36871978_36871979insG ENST00000325718.7 + 9 1024_1025 c.933_934insG c.(931-936)aaggaafs p.E312fs CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 312 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TGAGTCATAAAGGGAAGAAACT 0.574 T MLL AL 14 32 --- --- --- --- IZUMO2 126123 broad.mit.edu 37 19 50666294 50666295 + Frame_Shift_Del DEL GC GC - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr19:50666294_50666295delGC ENST00000293405.3 - 1 157_158 c.157_158delGC c.(157-159)cfs p.A53fs NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 53 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 CACGGCCCCGGCGCGCGCCTGC 0.668 13 37 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23346248 23346248 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr20:23346248delG ENST00000338121.5 + 2 1305 c.1228delG c.(1228-1230)gcfs p.G410fs GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Frame_Shift_Del_p.G410fs|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 410 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GCACCGCTGCGGCCAGTGCGG 0.682 27 78 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525235 43525252 + In_Frame_Del DEL TGCTGCTGGCGCTGCTGC TGCTGCTGGCGCTGCTGC - rs140238366 TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC ENST00000216115.2 + 5 470_487 c.407_424delTGCTGCTGGCGCTGCTGC c.(406-426)gtg>g p.VLLALLL136del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 136 apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) TGCGAACAGGtgctgctggcgctgctgctgctgctggc 0.711 12 59 --- --- --- --- DACH2 117154 broad.mit.edu 37 X 86069720 86069720 + Frame_Shift_Del DEL A A - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:86069720delA ENST00000373131.1 + 9 1691 c.1528delA c.(1528-1530)aafs p.K511fs DACH2_ENST00000477378.2_Intron|DACH2_ENST00000508860.1_Frame_Shift_Del_p.K357fs|DACH2_ENST00000373125.4_Frame_Shift_Del_p.K524fs|DACH2_ENST00000510272.1_Frame_Shift_Del_p.K305fs NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 524 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GAAGAAGGAGAAAAAAACCAA 0.428 16 18 --- --- --- --- TSPAN6 7105 broad.mit.edu 37 X 99890221 99890221 + Frame_Shift_Del DEL A A - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:99890221delA ENST00000373020.4 - 3 416 c.305delT c.(304-306)tgfs p.L102fs TSPAN6_ENST00000496771.1_5'UTR NM_003270.2 NP_003261.1 O43657 TSN6_HUMAN tetraspanin 6 102 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|ovary(1) 12 CAGTTCGACCAAAAAAACGAG 0.393 11 7 --- --- --- --- PLXNB3 5365 broad.mit.edu 37 X 153034499 153034499 + Frame_Shift_Del DEL G G - TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 174f1ea8-abcf-44ee-b17b-9687b3ab6dae a0cd5de0-863d-4f83-b9c5-949162c0963c g.chrX:153034499delG ENST00000538966.1 + 6 1703 c.1432delG c.(1432-1434)gcfs p.G478fs PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.G455fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.G108fs|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 455 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGACAGCAGTGGCAGTCACCT 0.642 27 22 --- --- --- ---