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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut LY9 4063 broad.mit.edu 37 1 160766021 160766021 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:160766021C>T uc001fwu.3 + 0 94 c.44C>T c.(43-45)cCt>cTt p.P15L LY9_uc001fwt.3_Missense_Mutation_p.P15L|LY9_uc010pjs.1_Missense_Mutation_p.P15L|LY9_uc001fwv.3_Missense_Mutation_p.P15L|LY9_uc001fww.3_Missense_Mutation_p.P15L NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 15 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTCCTGGGCCTTTCTCCAGT 0.493000 42 37 0 0 0.00058488 0 0 GABRR2 2570 broad.mit.edu 37 6 90024780 90024780 + Silent SNP G T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:90024780G>T uc003pnb.2 - 0 188 c.180C>A c.(178-180)ccC>ccA p.P60P NM_002043 NP_002034 P28476 GBRR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA. 60 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) ACCTTGGCTTGGGCATTTCCA 0.512000 318 9 0.000442599 0.00928309 0.000442599 1 0 TSHZ2 128553 broad.mit.edu 37 20 51870105 51870105 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr20:51870105C>T uc002xwo.3 + 1 995 c.108C>T c.(106-108)agC>agT p.S36S TSHZ2_uc021wex.1_Silent_p.S33S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 36 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S36S(2) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) aggaggaCAGCGGTTCAGTAG 0.527000 4 13 0 0 0.000151284 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 46 32 0 0 0.000491102 0 0 FSTL5 56884 broad.mit.edu 37 4 162459387 162459387 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:162459387C>T uc003iqh.3 - 9 1679 c.1243G>A c.(1243-1245)Gca>Aca p.A415T FSTL5_uc003iqi.3_Missense_Mutation_p.A414T|FSTL5_uc010iqv.3_Missense_Mutation_p.A414T NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 415 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TCATTCTTTGCGATACAAGTG 0.423000 93 55 0 0 0.000147903 0 0 OR2G6 391211 broad.mit.edu 37 1 248685628 248685628 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:248685628G>A uc001ien.1 + 0 681 c.681G>A c.(679-681)agG>agA p.R227R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGTGTTAAGGATAAAATCAG 0.463000 48 67 0 0 0.000147903 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795553 17795553 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:17795553G>A uc003zna.3 + 8 1159 c.871G>A c.(871-873)Gat>Aat p.D291N SH3GL2_uc011lmy.2_Missense_Mutation_p.D244N NM_003026 NP_003017 Q99962 SH3G2_HUMAN Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA. 291 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport Golgi membrane|cytosol|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) TGTCCAAATGGATCAGCCCTG 0.473000 11 15 0 0 9.7654e-05 0 0 LONRF2 164832 broad.mit.edu 37 2 100903486 100903486 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:100903486C>T uc002tal.4 - 10 2600 c.1960G>A c.(1960-1962)Gat>Aat p.D654N LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 654 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TGCACAGAATCGTGGAGAGCG 0.478000 2 12 0 0 6.40141e-05 0 0 TCHH 7062 broad.mit.edu 37 1 152082200 152082200 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:152082200C>T uc009wne.1 - 2 3765 c.3493G>A c.(3493-3495)Gag>Aag p.E1165K TCHH_uc001ezp.2_Missense_Mutation_p.E1165K NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 1165 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCCAGCTCCTGGCGCCTT 0.612000 12 5 0 0 0.000602214 0 0 ATP2A3 489 broad.mit.edu 37 17 3844872 3844872 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:3844872G>A uc002fwy.2 - 12 1795 c.1622C>T c.(1621-1623)tCc>tTc p.S541F ATP2A3_uc002fwz.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxa.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxb.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxc.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxd.2_Missense_Mutation_p.S541F|ATP2A3_uc002fwx.2_Missense_Mutation_p.S541F NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 541 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CTGCTCCCTGGAGGTGGGGGT 0.682000 19 25 0 0 0.00047179 0 0 FAM47B 170062 broad.mit.edu 37 X 34961618 34961618 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chrX:34961618C>T uc004ddi.2 + 0 706 c.670C>T c.(670-672)Cgc>Tgc p.R224C NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 224 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTCCAGTCTCCGCCCAGAGCC 0.657000 5 18 0 0 0.000566183 0 0 RHPN2 85415 broad.mit.edu 37 19 33493205 33493205 + Missense_Mutation SNP G C C rs150626917 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:33493205G>C uc002nuf.3 - 8 1119 c.1053C>G c.(1051-1053)caC>caG p.H351Q RHPN2_uc010xro.2_Missense_Mutation_p.H200Q|RHPN2_uc002nue.3_Missense_Mutation_p.H81Q NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 351 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GGGCCGCGTAGTGGTGGGCCT 0.632000 39 4 0 0 0.000157383 0 0 TICAM1 148022 broad.mit.edu 37 19 4817244 4817244 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:4817244G>A uc002mbi.3 - 1 1397 c.1146C>T c.(1144-1146)ttC>ttT p.F382F TICAM1_uc021unj.1_Silent_p.F382F NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 382 I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGAGGAAGGGAACAGGGAGG 0.572000 37 15 0 0 0.000566183 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501288 76501288 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:76501288C>T uc002fex.1 + 8 1671 c.1532C>T c.(1531-1533)cCa>cTa p.P511L CNTNAP4_uc002feu.1_Missense_Mutation_p.P507L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P372L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P435L|CNTNAP4_uc002few.2_Missense_Mutation_p.P483L NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 508 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.S510Y(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TGTAAAAGTCCACTTGGTGGA 0.418000 14 48 0 0 0.000147903 0 0 SPINT2 10653 broad.mit.edu 37 19 38782532 38782532 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:38782532C>T uc002ohr.2 + 6 1080 c.645C>T c.(643-645)gcC>gcT p.A215A SPINT2_uc002ohs.2_Silent_p.A158A NM_021102 NP_066925 O43291 SPIT2_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA. 215 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCCTGGGAGCCTCCATGGTCT 0.632000 11 5 0 0 0.000602214 0 0 TMEM161B 153396 broad.mit.edu 37 5 87498782 87498782 + Missense_Mutation SNP G C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:87498782G>C uc003kjc.3 - 8 1036 c.911C>G c.(910-912)cCt>cGt p.P304R TMEM161B_uc011cty.2_Missense_Mutation_p.P293R|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Missense_Mutation_p.P171R|TMEM161B_uc011ctx.2_Missense_Mutation_p.P122R NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN Homo sapiens transmembrane protein 161B (TMEM161B), mRNA. 304 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TACTTACAAAGGGATACTTTC 0.368000 76 44 0 0 0.000147903 0 0 CACNA1B 774 broad.mit.edu 37 9 140952241 140952241 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:140952241G>A uc004cog.3 + 26 4171 c.4026G>A c.(4024-4026)aaG>aaA p.K1342K CACNA1B_uc022bqn.1_Silent_p.K1342K|CACNA1B_uc011mfd.2_Silent_p.K943K|CACNA1B_uc004coi.3_Silent_p.K556K NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1342 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGCAGTGGAAGAAATACGACT 0.512000 4 10 0 0 3.86212e-05 0 0 ZNF385A 25946 broad.mit.edu 37 12 54764795 54764795 + Silent SNP C T T rs143375749 byFrequency TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:54764795C>T uc001sfy.3 - 5 805 c.750G>A c.(748-750)ggG>ggA p.G250G ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Silent_p.G230G|ZNF385A_uc010sov.1_Silent_p.G149G|ZNF385A_uc001sfx.1_Silent_p.G230G|ZNF385A_uc001sfz.3_Silent_p.G169G NM_001130967 NP_001124439 Q96PM9 Z385A_HUMAN Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA. 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CCTCTGGTTCCCCCGGGGTGG 0.597000 77 50 0 0 0.000147903 0 0 NOTCH4 4855 broad.mit.edu 37 6 32166278 32166279 + Missense_Mutation DNP CC AA AA TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:32166278_32166279CC>AA uc003obb.3 - 25 4814_4815 c.4675_4676GG>TT c.(4675-4677)ggg>TTg p.G1559L GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.G219L|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1559 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGGGAGCGCCCCACAGCCACCA 0.579000 276 11 0 0 6.4e-05 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991310 35991310 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:35991310G>A uc003jjv.2 - 0 226 c.33C>T c.(31-33)gcC>gcT p.A11A UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.A11A|UGT3A1_uc011cor.2_Silent_p.A11A|UGT3A1_uc003jjy.2_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 11 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) AAAGAAGGAAGGCCACTAGAA 0.602000 42 20 0 0 0.000175454 0 0 SCN5A 6331 broad.mit.edu 37 3 38628959 38628959 + Missense_Mutation SNP T G G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:38628959T>G uc021wvo.1 - 13 2420 c.2368A>C c.(2368-2370)Atc>Ctc p.I790L SCN5A_uc021wvk.1_Missense_Mutation_p.I790L|SCN5A_uc021wvl.1_Missense_Mutation_p.I790L|SCN5A_uc021wvm.1_Missense_Mutation_p.I790L|SCN5A_uc021wvn.1_Missense_Mutation_p.I790L|SCN5A_uc021wvp.1_Missense_Mutation_p.I790L|SCN5A_uc021wvq.1_Missense_Mutation_p.I790L|SCN5A_uc021wvr.1_Missense_Mutation_p.I790L|SCN5A_uc021wvs.1_Missense_Mutation_p.I790L|SCN5A_uc021wvt.1_Missense_Mutation_p.I790L|SCN5A_uc021wvu.1_Missense_Mutation_p.I790L|SCN5A_uc021wvv.1_Missense_Mutation_p.I790L|SCN5A_uc021wvj.1_Missense_Mutation_p.I656L|SCN5A_uc021wvi.1_Missense_Mutation_p.I656L|SCN5A_uc021wvw.1_Missense_Mutation_p.I401L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 790 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGCTAAGGATGACGATGATG 0.567000 16 9 0 0 0.000274275 0 0 ENPP7 339221 broad.mit.edu 37 17 77708929 77708929 + Missense_Mutation SNP G C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:77708929G>C uc002jxa.3 + 2 507 c.487G>C c.(487-489)Gca>Cca p.A163P NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA. 163 negative regulation of DNA replication|negative regulation of cell proliferation|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) AGAAGGCATCGCACACAACTA 0.587000 32 18 0 0 0.000132079 0 0 FBXO42 54455 broad.mit.edu 37 1 16577944 16577944 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:16577944G>A uc001ayg.3 - 9 1591 c.1375C>T c.(1375-1377)Cct>Tct p.P459S FBXO42_uc001ayf.3_Missense_Mutation_p.P366S NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 459 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GCCTGTACAGGACTGTCCAAA 0.542000 11 14 0 0 0.000308642 0 0 SP140 11262 broad.mit.edu 37 2 231157400 231157400 + Missense_Mutation SNP G T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:231157400G>T uc002vql.3 + 19 1980 c.1865G>T c.(1864-1866)tGg>tTg p.W622L SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.W508L|SP140_uc002vqm.3_Missense_Mutation_p.W562L|SP140_uc010fxl.3_Missense_Mutation_p.W595L NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 622 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GATGGAAAATGGTTCACCCCC 0.517000 23 48 3.70713e-34 8.3153e-33 0.000147903 1 0 DACH1 1602 broad.mit.edu 37 13 72063214 72063214 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:72063214C>T uc021rkj.1 - 6 2066 c.1643G>A c.(1642-1644)gGa>gAa p.G548E DACH1_uc021rkk.1_Missense_Mutation_p.G400E|DACH1_uc021rkl.1_Missense_Mutation_p.G346E NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 598 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CAGTGGTTGTCCATGCCCAGT 0.448000 141 93 0 0 0.000147903 0 0 TG 7038 broad.mit.edu 37 8 133961052 133961052 + Silent SNP C A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:133961052C>A uc003ytw.3 + 26 5306 c.5265C>A c.(5263-5265)ccC>ccA p.P1755P TG_uc010mdw.3_Silent_p.P514P|TG_uc011ljb.2_Silent_p.P124P NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1755 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.P1755R(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGAGCTCACCCAGTGTCCTGC 0.527000 193 7 0.000274275 0.00582835 0.000274275 1 0 IQCF3 401067 broad.mit.edu 37 3 51864457 51864457 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:51864457G>A uc021wyy.1 + 6 893 c.105G>A c.(103-105)aaG>aaA p.K35K IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Silent_p.K35K NM_001085479 NP_001193952 P0C7M6 IQCF3_HUMAN Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA. 35 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAAGGGTGAAGGCAGCTGGGC 0.572000 37 12 0 0 0.000151284 0 0 KIAA0182 23199 broad.mit.edu 37 16 85697143 85697143 + Missense_Mutation SNP A G G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:85697143A>G uc002fix.3 + 10 2641 c.2567A>G c.(2566-2568)aAc>aGc p.N856S KIAA0182_uc002fiw.3_Missense_Mutation_p.N752S|KIAA0182_uc002fiy.3_Missense_Mutation_p.N783S|KIAA0182_uc002fiz.3_Missense_Mutation_p.N36S|KIAA0182_uc010cho.3_Missense_Mutation_p.N36S NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 856 protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 GAGATGAACAACAGTCCCAAC 0.557000 44 4 0 0 0.00024832 0 0 OR10A4 283297 broad.mit.edu 37 11 6898649 6898649 + Silent SNP C T T rs146451877 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:6898649C>T uc010rat.2 + 0 794 c.771C>T c.(769-771)atC>atT p.I257I NM_207186 NP_997069 Q9H209 O10A4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA. 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCACTGCCATCCTCACGTATT 0.527000 17 50 0 0 0.000147903 0 0 PRDM1 639 broad.mit.edu 37 6 106554799 106554799 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:106554799G>A uc003prd.2 + 6 2150 c.1916G>A c.(1915-1917)aGa>aAa p.R639K PRDM1_uc003pre.3_Missense_Mutation_p.R505K NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 639 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TGCCACAAGAGATTTAGCAGC 0.542000 """D, N, Mis, F, S""" DLBCL 41 23 0 0 9.22233e-05 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160470 9160470 + RNA SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chrY:9160470C>T uc004frl.1 - 0 c.14G>A Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. GATGATCTGCCTCTACCATTG 0.333000 66 7 0 0 8.12818e-05 0 0 ATRNL1 26033 broad.mit.edu 37 10 117001410 117001410 + Missense_Mutation SNP T G G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:117001410T>G uc001lcg.3 + 9 1969 c.1583T>G c.(1582-1584)cTt>cGt p.L528R NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 528 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCAGCTGTTCTTATCAATGGA 0.358000 26 26 0 0 0.000279167 0 0 ROS1 6098 broad.mit.edu 37 6 117714445 117714445 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:117714445C>T uc003pxp.1 - 10 1403 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 402 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGAGTAATTTCCTCGATGTTT 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 306 154 0 0 0.000147903 0 0 S100A9 6280 broad.mit.edu 37 1 153333147 153333147 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:153333147G>A uc001fbq.3 + 2 221 c.178G>A c.(178-180)Gaa>Aaa p.E60K NM_002965 NP_002956 P06702 S10A9_HUMAN Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA. 60 EF-hand 2. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAAGGTCATAGAACACATCAT 0.542000 48 21 0 0 0.000375601 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37488708 37488708 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:37488708G>A uc021ppc.1 + 29 2701 c.2602G>A c.(2602-2604)Gat>Aat p.D868N ANKRD30A_uc001iza.1_Missense_Mutation_p.D868N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 924 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATTCTTGGGATTCTGAGGT 0.299000 15 12 0 0 0.000566183 0 0 SH3RF2 153769 broad.mit.edu 37 5 145379788 145379788 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:145379788C>T uc003lnt.3 + 2 784 c.546C>T c.(544-546)atC>atT p.I182I SH3RF2_uc011dbl.1_Silent_p.I182I NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 182 SH3 1. ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAAGTCATCAAGCAGCTGC 0.567000 27 12 0 0 0.000151284 0 0 FAM194A 131831 broad.mit.edu 37 3 150396229 150396229 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:150396229G>A uc003eyg.3 - 9 1281 c.1224C>T c.(1222-1224)atC>atT p.I408I FAM194A_uc003eyh.3_Silent_p.I262I NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 408 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CACAACAAATGATAGACATGT 0.264000 54 37 0 0 0.000437636 0 0 USH2A 7399 broad.mit.edu 37 1 216371818 216371818 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:216371818G>A uc001hku.1 - 17 4307 c.3920C>T c.(3919-3921)tCa>tTa p.S1307L USH2A_uc001hkv.3_Missense_Mutation_p.S1307L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1307 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) TTCTACAAATGAATGAGGACT 0.398000 HNSCC(13;0.011) 27 11 0 0 6.40141e-05 0 0 IL5RA 3568 broad.mit.edu 37 3 3139902 3139902 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:3139902C>T uc011ask.2 - 6 1084 c.440G>A c.(439-441)aGg>aAg p.R147K IL5RA_uc010hbq.3_Missense_Mutation_p.R147K|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.R147K|IL5RA_uc011asl.2_Missense_Mutation_p.R147K|IL5RA_uc011asm.1_Missense_Mutation_p.R147K|IL5RA_uc010hbt.2_Missense_Mutation_p.R147K|IL5RA_uc011asn.1_Missense_Mutation_p.R147K|IL5RA_uc010hbu.2_Missense_Mutation_p.R147K NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 147 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TTGGTATGACCTTAAACGTGA 0.413000 41 21 0 0 0.000295444 0 0 OR14I1 401994 broad.mit.edu 37 1 248845069 248845069 + Silent SNP G T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:248845069G>T uc001ieu.1 - 0 537 c.537C>A c.(535-537)atC>atA p.I179I NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 ACACATGAGGGATGTCACGGA 0.512000 22 9 2.17888e-05 0.00047876 0.000442599 1 0 NBPF10 100132406 broad.mit.edu 37 1 145360584 145360584 + Missense_Mutation SNP G A A rs78186669 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:145360584G>A uc021oul.1 + 73 9244 c.9209G>A c.(9208-9210)gGg>gAg p.G3070E NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3070 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) GATGAGAAAGGGCCTGAAGTC 0.483000 21 4 0 0 0.000602214 0 0 FANCA 2175 broad.mit.edu 37 16 89849495 89849495 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:89849495G>A uc002fou.1 - 15 1528 c.1486C>T c.(1486-1488)Cca>Tca p.P496S FANCA_uc010vpn.1_Missense_Mutation_p.P496S NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 496 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACCAGGGGTGGGTGGAGAATG 0.587000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 19 0 0 0.000175454 0 0 TPTEP1 387590 broad.mit.edu 37 22 17178617 17178617 + RNA SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:17178617G>A uc002zls.1 + 2 c.699G>A Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA. TCTTGCTGATGATTTGGAACA 0.622000 20 37 0 0 0.000437636 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750451 41750451 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:41750451G>A uc003gwf.4 - 0 537 c.177C>T c.(175-177)tcC>tcT p.S59S NM_003924 NP_003915 Q99453 PHX2B_HUMAN Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. 59 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|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CCGGCGTGAGGGAAGGGCAGC 0.622000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 26 14 0 0 0.000308642 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34791085 34791086 + Missense_Mutation DNP CC AA AA TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:34791085_34791086CC>AA uc003oju.4 + 3 532_533 c.298_299CC>AA c.(298-300)ccc>AAc p.P100N UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 100 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCCTCGGCCCCCCAATGGACAG 0.436000 477 12 0 0 6.4e-05 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671550 39671550 + Missense_Mutation SNP G C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr21:39671550G>C uc021wjc.1 + 0 367 c.367G>C c.(367-369)Gaa>Caa p.E123Q KCNJ15_uc002ywv.3_Missense_Mutation_p.E123Q|KCNJ15_uc002yww.3_Missense_Mutation_p.E123Q|KCNJ15_uc002ywx.3_Missense_Mutation_p.E123Q NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 123 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTTTTCCCTGGAATCCCAGAC 0.493000 104 5 0 0 0.000602214 0 0 DNAH5 1767 broad.mit.edu 37 5 13823435 13823435 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:13823435G>A uc003jfd.2 - 39 6666 c.6624C>T c.(6622-6624)ctC>ctT p.L2208L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2208 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D2207Y(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) TATTTGGAAAGAGATCTTCAA 0.383000 Kartagener syndrome 89 56 0 0 0.000147903 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72339511 72339511 + RNA SNP A C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:72339511A>C uc010lal.1 - 0 c.145T>G Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. CCACCACTCCATCTTCCTTTT 0.582000 26 4 0 0 0.00024832 0 0 OSBP2 23762 broad.mit.edu 37 22 31289464 31289464 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:31289464G>A uc003aiy.1 + 9 2109 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K OSBP2_uc011ala.1_Missense_Mutation_p.E503K|OSBP2_uc010gwc.1_Missense_Mutation_p.E496K|OSBP2_uc011alb.1_Missense_Mutation_p.E620K|OSBP2_uc003aiz.1_Missense_Mutation_p.E668K|OSBP2_uc003aja.1_Missense_Mutation_p.E302K|OSBP2_uc011alc.2_Missense_Mutation_p.E411K|OSBP2_uc011ald.1_Missense_Mutation_p.E213K|OSBP2_uc010gwd.1_Missense_Mutation_p.E214K NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 669 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CATCCACTTAGAATTCCAGGC 0.587000 49 24 0 0 0.000117367 0 0 AFP 174 broad.mit.edu 37 4 74310728 74310728 + Silent SNP T C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:74310728T>C uc003hgz.1 + 6 779 c.732T>C c.(730-732)agT>agC p.S244S AFP_uc011cbg.1_Silent_p.S18S NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 244 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTAAACTGAGTCAGAAGTTTA 0.333000 Alpha-Fetoprotein, Hereditary Persistence of 32 16 0 0 0.000308642 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361499 70361499 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:70361499C>T uc003hek.4 - 0 128 c.81G>A c.(79-81)ctG>ctA p.L27L UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Silent_p.L27L NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 27 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.L27L(2)|p.L27M(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGGGCCACACCAGCACCTTTC 0.458000 84 42 0 0 0.000147903 0 0 MYT1L 23040 broad.mit.edu 37 2 1906931 1906931 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:1906931G>A uc002qxe.3 - 13 2780 c.1953C>T c.(1951-1953)taC>taT p.Y651Y MYT1L_uc002qxd.3_Silent_p.Y649Y|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 651 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATGGTTGTCGTAACTGTTGT 0.478000 71 7 0 0 8.12818e-05 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453000 40 4 0 0 0.00024832 0 0 GBP5 115362 broad.mit.edu 37 1 89732246 89732246 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:89732246G>A uc001dnc.3 - 6 1188 c.651C>T c.(649-651)ttC>ttT p.F217F GBP5_uc001dnd.3_Silent_p.F217F|GBP5_uc001dne.1_Silent_p.F217F NM_052942 NP_443174 Q96PP8 GBP5_HUMAN Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA. 217 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) GGGGCAAATTGAAATTTTGAA 0.328000 62 35 0 0 0.000191422 0 0 ETAA1 54465 broad.mit.edu 37 2 67630986 67630986 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:67630986C>T uc002sdz.1 + 4 1311 c.1172C>T c.(1171-1173)cCt>cTt p.P391L NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA. 391 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GGTAGTGAACCTTTTGCTATG 0.348000 100 5 0 0 0.000602214 0 0 LSR 51599 broad.mit.edu 37 19 35741440 35741440 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:35741440G>A uc002nyl.3 + 1 699 c.476G>A c.(475-477)gGc>gAc p.G159D LSR_uc010xsr.2_Missense_Mutation_p.G159D|LSR_uc002nym.3_Missense_Mutation_p.G159D|LSR_uc002nyn.3_Missense_Mutation_p.G159D|LSR_uc002nyo.3_Missense_Mutation_p.G159D|LSR_uc002nyp.3_Missense_Mutation_p.G122D NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 159 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGGAACCCAGGCTACAACCCC 0.637000 19 19 0 0 0.000132079 0 0 MAP3K3 4215 broad.mit.edu 37 17 61744314 61744314 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:61744314C>T uc002jbg.3 + 5 715 c.396C>T c.(394-396)ccC>ccT p.P132P MAP3K3_uc002jbe.3_Silent_p.P163P|MAP3K3_uc002jbf.3_Silent_p.P163P|MAP3K3_uc002jbh.3_Silent_p.P163P|MAP3K3_uc010wpo.2_Silent_p.P47P|MAP3K3_uc010wpp.2_Silent_p.P132P NM_002401 NP_002392 Q99759 M3K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA. 132 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GTTCCTCTCCCCACTCTGGGG 0.527000 50 22 0 0 0.000375601 0 0 OR4F6 390648 broad.mit.edu 37 15 102346244 102346245 + Missense_Mutation DNP GG TT TT TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:102346244_102346245GG>TT uc010utr.2 + 0 322_323 c.322_323GG>TT c.(322-324)ggg>TTg p.G108L NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA. 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G108W(2)|p.V107F(1) breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CCATGCAGTTGGGGGAACTGAG 0.480000 512 15 0 0 6.4e-05 0 0 SLC9C2 284525 broad.mit.edu 37 1 173550993 173550993 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:173550993G>A uc001giz.2 - 6 1218 c.795C>T c.(793-795)ttC>ttT p.F265F SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 265 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TACCAATATAGAAAGTCATGT 0.318000 25 13 0 0 0.000422831 0 0 NEK5 341676 broad.mit.edu 37 13 52639643 52639643 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:52639643G>A uc001vge.3 - 21 2167 c.2027C>T c.(2026-2028)tCc>tTc p.S676F NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA. 676 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GGGGCAGGTGGAGGTGATGTC 0.592000 42 31 0 0 0.000227799 0 0 CASR 846 broad.mit.edu 37 3 121973101 121973101 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:121973101C>T uc003eew.4 + 1 503 c.65C>T c.(64-66)cCa>cTa p.P22L CASR_uc003eev.4_Missense_Mutation_p.P22L NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 22 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GCCTACGGGCCAGACCAGCGA 0.537000 64 46 0 0 0.000147903 0 0 DNAH17 8632 broad.mit.edu 37 17 76510915 76510915 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:76510915C>T uc010dhp.2 - 25 4179 c.4054G>A c.(4054-4056)Gag>Aag p.E1352K NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCTGCAGCTCGCTCACGGCA 0.622000 32 24 0 0 0.000375601 0 0 ZP2 7783 broad.mit.edu 37 16 21209114 21209114 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:21209114C>T uc010bwn.1 - 17 2240 c.2158G>A c.(2158-2160)Gaa>Aaa p.E720K ZP2_uc002dii.2_Missense_Mutation_p.E690K NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 690 binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TCCCCTGTTTCACTCCTACTC 0.468000 174 58 0 0 0.000147903 0 0 CACNA1A 773 broad.mit.edu 37 19 13365981 13365981 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:13365981G>A uc002mwy.3 - 28 4919 c.4683C>T c.(4681-4683)ttC>ttT p.F1561F CACNA1A_uc002mwx.3_Silent_p.F267F|CACNA1A_uc010dzc.2_Silent_p.F1087F|CACNA1A_uc010xnd.2_Silent_p.F1564F|CACNA1A_uc021ups.1_Silent_p.F1561F|CACNA1A_uc010xne.2_Silent_p.F1564F|CACNA1A_uc010dze.2_Silent_p.F1561F|CACNA1A_uc021upt.1_Silent_p.F1562F|CACNA1A_uc002mwv.3_Silent_p.F78F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1562 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.F1562F(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGACACCACGAACTGCCACA 0.587000 18 9 0 0 3.86212e-05 0 0 LOC642846 642846 broad.mit.edu 37 12 9464178 9464178 + RNA SNP G A A rs112191067 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:9464178G>A uc001qvp.2 + 12 c.1145G>A LOC642846_uc010sgp.1_Intron Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA. CACACCAGGTGGAGCAGGTGC 0.592000 75 20 0 0 0.000586117 0 0 PTK2 5747 broad.mit.edu 37 8 141727723 141727723 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:141727723C>T uc003yvu.3 - 22 2426 c.2116G>A c.(2116-2118)Gga>Aga p.G706R PTK2_uc011ljp.2_Missense_Mutation_p.G14R|PTK2_uc003yvo.3_Missense_Mutation_p.G334R|PTK2_uc011ljq.2_Missense_Mutation_p.G401R|PTK2_uc003yvp.3_Missense_Mutation_p.G374R|PTK2_uc003yvq.3_Missense_Mutation_p.G232R|PTK2_uc003yvr.3_Missense_Mutation_p.G646R|PTK2_uc003yvs.3_Missense_Mutation_p.G706R|PTK2_uc011ljr.2_Missense_Mutation_p.G706R|PTK2_uc003yvt.3_Missense_Mutation_p.G728R|PTK2_uc003yvv.3_Missense_Mutation_p.G606R NM_153831 NP_722560 Q05397 FAK1_HUMAN Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA. 706 axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TCAGACCCTCCGGAGTCCCAG 0.517000 122 5 0 0 8.12818e-05 0 0 UNC79 57578 broad.mit.edu 37 14 94158220 94158220 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:94158220G>A uc001ybv.1 + 44 7133 c.7050G>A c.(7048-7050)gcG>gcA p.A2350A UNC79_uc001ybs.1_Silent_p.A2328A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2505 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTTCACGGCGATACTGACAG 0.473000 69 53 0 0 0.000147903 0 0 KCNQ1 3784 broad.mit.edu 37 11 2593264 2593264 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:2593264C>T uc001lwn.3 + 4 813 c.705C>T c.(703-705)atC>atT p.I235I KCNQ1_uc009ydp.1_Silent_p.I19I|KCNQ1_uc001lwo.3_Silent_p.I108I NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 235 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TCCTGCAGATCCTGAGGATGC 0.687000 37 91 0 0 0.000147903 0 0 IL17A 3605 broad.mit.edu 37 6 52052467 52052467 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:52052467G>A uc003pak.1 + 1 139 c.94G>A c.(94-96)Gga>Aga p.G32R NM_002190 NP_002181 Q16552 IL17_HUMAN Homo sapiens interleukin 17A (IL17A), mRNA. 32 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ACGAAATCCAGGATGCCCAAA 0.493000 199 115 0 0 0.000147903 0 0 SYNE1 23345 broad.mit.edu 37 6 152746629 152746629 + Silent SNP T C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:152746629T>C uc021zhb.1 - 36 5377 c.5154A>G c.(5152-5154)caA>caG p.Q1718Q SYNE1_uc003qot.4_Silent_p.Q1725Q|SYNE1_uc003qou.4_Silent_p.Q1718Q|SYNE1_uc010kjb.1_Silent_p.Q1701Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 1718 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) ATTCCTTCAATTGCAAAAGTT 0.388000 HNSCC(10;0.0054) 79 30 0 0 0.000227799 0 0 PCSK9 255738 broad.mit.edu 37 1 55525203 55525203 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:55525203G>A uc001cyf.2 + 9 1910 c.1548G>A c.(1546-1548)ggG>ggA p.G516G PCSK9_uc010oom.2_Non-coding_Transcript NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 516 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 ACGCTTTTGGGGGTGAGGGTG 0.597000 92 38 0 0 0.000228196 0 0 LRP5 4041 broad.mit.edu 37 11 68192666 68192666 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:68192666C>T uc001ont.3 + 14 3408 c.3333C>T c.(3331-3333)ctC>ctT p.L1111L LRP5_uc009ysg.3_Silent_p.L521L NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1111 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCACCGGCCTCATCCGCCCTG 0.637000 6 17 0 0 9.7654e-05 0 0 ACSM2A 123876 broad.mit.edu 37 16 20494476 20494476 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:20494476G>A uc010bwe.3 + 13 1845 c.1606G>A c.(1606-1608)Gcc>Acc p.A536T ACSM2A_uc002dhf.4_Missense_Mutation_p.A536T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A536T|ACSM2A_uc010vay.2_Missense_Mutation_p.A457T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A166T NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 536 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.A536A(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GTCAGTGACAGCCCCATACAA 0.488000 122 32 0 0 0.000270559 0 0 PTPRD 5789 broad.mit.edu 37 9 8460523 8460523 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:8460523G>A uc003zkk.3 - 32 4506 c.3763C>T c.(3763-3765)Ctg>Ttg p.L1255L PTPRD_uc003zkp.3_Silent_p.L844L|PTPRD_uc003zkq.3_Silent_p.L844L|PTPRD_uc003zkr.3_Silent_p.L839L|PTPRD_uc003zks.3_Silent_p.L834L|PTPRD_uc022bdj.1_Silent_p.L841L NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1255 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L1255M(3)|p.L726M(1)|p.L844M(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGCGGATCCAGATCCATTGAC 0.438000 TSP Lung(15;0.13) 22 25 0 0 0.000117367 0 0 CHD2 1106 broad.mit.edu 37 15 93492257 93492257 + Nonsense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:93492257C>T uc002bsp.3 + 12 2028 c.1453C>T c.(1453-1455)Cga>Tga p.R485* CHD2_uc002bsn.3_Nonsense_Mutation_p.R485*|CHD2_uc002bso.1_Nonsense_Mutation_p.R485*|CHD2_uc010urb.2_Nonsense_Mutation_p.R498* NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 485 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TCTGGAACTTCGAGATTATCA 0.413000 79 120 0 0 0.000147903 0 0 RFX5 5993 broad.mit.edu 37 1 151314838 151314838 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:151314838G>A uc001exv.1 - 10 1889 c.1675C>T c.(1675-1677)Ccc>Tcc p.P559S RFX5_uc001exw.1_Missense_Mutation_p.P559S|RFX5_uc010pcx.1_Missense_Mutation_p.P519S NM_001025603 NP_001020774 P48382 RFX5_HUMAN Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA. 559 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGGACCAAGGGAATTTTATCT 0.522000 71 54 0 0 0.000147903 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794354 15794354 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:15794354G>A uc002nbl.3 + 6 818 c.699G>A c.(697-699)gaG>gaA p.E233E NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. p.V232E(1) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCCTTGTAGAGAAAAGAAGCC 0.537000 36 27 0 0 0.000147802 0 0 KIAA1324 57535 broad.mit.edu 37 1 109716166 109716167 + Missense_Mutation DNP CC AA AA TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:109716166_109716167CC>AA uc021orb.1 + 5 988_989 c.767_768CC>AA c.(766-768)ccc>cAA p.P256Q KIAA1324_uc009wex.2_Missense_Mutation_p.P256Q|KIAA1324_uc010ovg.2_Missense_Mutation_p.P154Q|KIAA1324_uc009wey.3_Missense_Mutation_p.P256Q NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 256 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) ACCAAAGTACCCAAGCCTGTGC 0.480000 233 9 0 0 6.4e-05 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5191880 5191880 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:5191880C>T uc003jdl.3 + 7 1428 c.1290C>T c.(1288-1290)acC>acT p.T430T ADAMTS16_uc003jdk.1_Silent_p.T430T|ADAMTS16_uc003jdj.1_Silent_p.T430T NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 430 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T430K(3) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TGGCCTTCACCATTGCCCATG 0.443000 83 62 0 0 0.000147903 0 0 DSCAM 1826 broad.mit.edu 37 21 41385240 41385240 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr21:41385240C>T uc002yyq.1 - 32 6212 c.5760G>A c.(5758-5760)agG>agA p.R1920R DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1920 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCTCAGGTCCCTGCTGGTGC 0.547000 44 22 0 0 9.22233e-05 0 0 FAM47C 442444 broad.mit.edu 37 X 37029045 37029045 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chrX:37029045C>T uc004ddl.2 + 0 2614 c.2562C>T c.(2560-2562)gaC>gaT p.D854D NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 854 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AACTCCGTGACTTCAAGTGGG 0.443000 16 48 0 0 0.000147903 0 0 STK31 56164 broad.mit.edu 37 7 23809348 23809348 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:23809348C>T uc003sws.4 + 12 1753 c.1686C>T c.(1684-1686)gtC>gtT p.V562V STK31_uc003swt.4_Silent_p.V539V|STK31_uc011jze.2_Silent_p.V562V|STK31_uc010kuq.3_Silent_p.V539V NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 562 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.S561I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGTCAAGTGTCTGCAAAGAGC 0.383000 105 58 0 0 0.000147903 0 0 ANK3 288 broad.mit.edu 37 10 61835300 61835300 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:61835300G>A uc001jky.3 - 36 5677 c.5339C>T c.(5338-5340)tCa>tTa p.S1780L ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1780 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGAAACATATGACCTGAGTGG 0.473000 36 47 0 0 0.000147903 0 0 DCAF11 80344 broad.mit.edu 37 14 24587609 24587609 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:24587609G>A uc001wlv.3 + 6 870 c.590G>A c.(589-591)cGa>cAa p.R197Q DCAF11_uc001wlw.3_Missense_Mutation_p.R197Q|DCAF11_uc001wlz.3_Missense_Mutation_p.R97Q|DCAF11_uc001wly.3_Missense_Mutation_p.R153Q|DCAF11_uc010tny.2_Missense_Mutation_p.R64Q|DCAF11_uc001wmc.3_Missense_Mutation_p.R97Q|DCAF11_uc001wmb.4_Missense_Mutation_p.R171Q|DCAF11_uc001wma.4_Missense_Mutation_p.R197Q NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 197 CUL4 RING ubiquitin ligase complex protein binding CAGACAATCCGACTCTATGAC 0.493000 120 69 0 0 0.000147903 0 0 CABIN1 23523 broad.mit.edu 37 22 24573553 24573553 + Missense_Mutation SNP C A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:24573553C>A uc002zzi.1 + 35 6414 c.6287C>A c.(6286-6288)cCa>cAa p.P2096Q CABIN1_uc021wnc.1_Missense_Mutation_p.P2046Q|CABIN1_uc002zzj.1_Missense_Mutation_p.P2017Q|CABIN1_uc002zzl.2_Missense_Mutation_p.P2096Q|CABIN1_uc010gul.1_Missense_Mutation_p.P34Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 2096 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCTCTCCCCCAACAGCTGCC 0.662000 90 6 8.12818e-05 0.00175027 8.12818e-05 1 0 DNAJB11 51726 broad.mit.edu 37 3 186303137 186303137 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:186303137C>T uc003fqi.3 + 9 1752 c.1017C>T c.(1015-1017)atC>atT p.I339I NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA. 339 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) CTTCAGGTATCAAACAGCTAC 0.328000 34 17 0 0 7.07596e-05 0 0 CCAR1 55749 broad.mit.edu 37 10 70502219 70502219 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:70502219C>T uc001joo.3 + 5 530 c.411C>T c.(409-411)tcC>tcT p.S137S CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Silent_p.S111S|CCAR1_uc001jon.1_Silent_p.S83S|CCAR1_uc010qiz.1_Silent_p.S122S|CCAR1_uc010qja.1_Silent_p.S122S|CCAR1_uc010qjb.2_Non-coding_Transcript NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA. 137 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding p.S137C(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CACCAAGGTCCAGTCAACAGC 0.438000 20 32 0 0 0.000409698 0 0 MIR573 693158 broad.mit.edu 37 4 24521913 24521913 + Splice_Site SNP A T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:24521913A>T uc021xmx.1 - 1 c.1_splice c.e1-1 Homo sapiens microRNA 573 (MIR573), microRNA. AAACCGCTAAAGCAGCCGACA 0.393000 92 47 0 0 0.000147903 0 0 C2CD3 26005 broad.mit.edu 37 11 73753120 73753120 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:73753120G>A uc001ouu.2 - 28 5866 c.5639C>T c.(5638-5640)aCc>aTc p.T1880I C2CD3_uc001out.3_Non-coding_Transcript NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 1880 centrosome p.Q1879H(1) 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) CAGAATGGAGGTTTGGGAGGA 0.493000 17 38 0 0 0.000437636 0 0 GABRP 2568 broad.mit.edu 37 5 170222403 170222403 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:170222403C>T uc003mau.3 + 4 630 c.432C>T c.(430-432)tcC>tcT p.S144S GABRP_uc011dev.2_Silent_p.S144S NM_014211 NP_055026 O00591 GBRP_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA. 144 cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.S144F(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCTCTTCTCCAATGGCACGG 0.552000 31 24 0 0 0.000117367 0 0 C9 735 broad.mit.edu 37 5 39285309 39285309 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:39285309C>T uc003jlv.4 - 10 1761 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 558 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) CTCTATTTTTCATTGGGGAAC 0.408000 47 35 0 0 0.000374591 0 0 COL3A1 1281 broad.mit.edu 37 2 189849645 189849645 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:189849645C>T uc002uqj.1 + 1 356 c.239C>T c.(238-240)cCa>cTa p.P80L NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 80 VWFC. 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) CCAGAAATTCCATTTGGAGAA 0.413000 18 23 0 0 0.000586117 0 0 CD163 9332 broad.mit.edu 37 12 7640410 7640410 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:7640410C>T uc001qsz.3 - 6 1822 c.1694G>A c.(1693-1695)gGa>gAa p.G565E CD163_uc001qta.3_Missense_Mutation_p.G565E|CD163_uc009zfw.2_Missense_Mutation_p.G565E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 565 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.G565R(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCTACAAGTTCCTTCTGGGCG 0.498000 49 35 0 0 0.000270559 0 0 PCDH17 27253 broad.mit.edu 37 13 58298998 58298998 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:58298998C>T uc001vhq.1 + 3 3942 c.3050C>T c.(3049-3051)cCt>cTt p.P1017L PCDH17_uc010aec.1_Missense_Mutation_p.P1016L|PCDH17_uc001vhr.1_Missense_Mutation_p.P106L NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 1017 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AACGTTAAACCTTATTTAAAA 0.478000 44 24 0 0 0.000375601 0 0 OR4A47 403253 broad.mit.edu 37 11 48510479 48510479 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:48510479G>A uc010rhx.2 + 0 135 c.135G>A c.(133-135)gtG>gtA p.V45V NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCATTGTAGTGACCGTAACTG 0.418000 11 23 0 0 0.000117367 0 0 OR2F1 26211 broad.mit.edu 37 7 143657992 143657992 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:143657992G>A uc003wds.1 + 0 973 c.929G>A c.(928-930)gGg>gAg p.G310E NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AAATTCTCTGGGTTAACATCA 0.428000 32 19 0 0 0.000175454 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183113 200183113 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:200183113C>T uc009wzi.1 + 0 458 c.422C>T c.(421-423)tCc>tTc p.S141F NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 141 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 TTCCAGGTCTCCTTCCAGCAT 0.602000 32 27 0 0 0.000147802 0 0 KDELC1 79070 broad.mit.edu 37 13 103449154 103449154 + Splice_Site SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr13:103449154C>T uc001vpq.4 - 2 772 c.388_splice c.e2+1 p.G130_splice KDELC1_uc001vpr.4_Splice_Site|BIVM-ERCC5_uc001vps.3_5'Flank|BIVM-ERCC5_uc010agc.3_5'Flank NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA. 130 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCCAAATTACCTTTTAAAATA 0.269000 21 14 0 0 0.000219431 0 0 HS1BP3 64342 broad.mit.edu 37 2 20840906 20840906 + Missense_Mutation SNP T C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:20840906T>C uc002rdw.1 - 2 274 c.233A>G c.(232-234)tAc>tGc p.Y78C HS1BP3_uc002rdx.3_Missense_Mutation_p.Y78C|HS1BP3_uc002rdy.3_Missense_Mutation_p.Y78C NM_022460 NP_071905 Q53T59 H1BP3_HUMAN Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA. 78 PX. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTTTCTGGTAAAACTCCTC 0.552000 36 37 0 0 0.000509022 0 0 OTX2 5015 broad.mit.edu 37 14 57268611 57268611 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:57268611G>A uc001xcq.3 - 4 1010 c.736C>T c.(736-738)Ctt>Ttt p.L246F OTX2_uc001xcp.3_Missense_Mutation_p.L238F|OTX2_uc021rtm.1_Missense_Mutation_p.L68F|OTX2_uc010aou.3_Missense_Mutation_p.L238F NM_021728 NP_068374 P32243 OTX2_HUMAN Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. 238 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) TGGGTGGAAAGAGAAGCTGGG 0.507000 55 31 0 0 0.000109025 0 0 PM20D1 148811 broad.mit.edu 37 1 205814680 205814680 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:205814680G>A uc001hdj.3 - 2 338 c.262C>T c.(262-264)Cct>Tct p.P88S PM20D1_uc009xbr.3_Non-coding_Transcript NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA. 88 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACCACTGTAGGAAAGACTAGA 0.463000 35 16 0 0 0.000308642 0 0 SYT15 83849 broad.mit.edu 37 10 46969424 46969424 + Missense_Mutation SNP T A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr10:46969424T>A uc001jea.3 - 1 190 c.37A>T c.(37-39)Atc>Ttc p.I13F SYT15_uc001jdz.2_Missense_Mutation_p.I13F|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 13 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AGCCCCCCGATGGTGCCCCCA 0.637000 2 7 0 0 0.000157383 0 0 NLRP7 199713 broad.mit.edu 37 19 55450410 55450410 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:55450410C>T uc002qih.4 - 3 1853 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K NLRP7_uc010esk.3_Missense_Mutation_p.E593K|NLRP7_uc002qig.4_Missense_Mutation_p.E593K|NLRP7_uc002qii.4_Missense_Mutation_p.E593K|NLRP7_uc010esl.3_Missense_Mutation_p.E621K NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 593 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ATAGAAATTTCCTTGAACGGG 0.493000 34 20 0 0 0.000132079 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14779986 14779986 + Missense_Mutation SNP G A A rs76927023 byFrequency TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr18:14779986G>A uc010dlo.2 + 10 1628 c.1448G>A c.(1447-1449)cGa>cAa p.R483Q ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.R483Q NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 483 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GAATCCAAACGAGAGGAAGAT 0.284000 17 7 0 0 0.000442599 0 0 EPHA6 285220 broad.mit.edu 37 3 96706248 96706248 + Silent SNP A G G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:96706248A>G uc010how.1 + 2 568 c.525A>G c.(523-525)ccA>ccG p.P175P EPHA6_uc003drp.1_Silent_p.P175P NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 80 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity p.R174C(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TAATGGAACCAAACCAAAACA 0.393000 67 52 0 0 0.000147903 0 0 MMRN1 22915 broad.mit.edu 37 4 90872795 90872795 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:90872795G>A uc003hst.3 + 6 3229 c.3158G>A c.(3157-3159)gGg>gAg p.G1053E MMRN1_uc010iku.3_Missense_Mutation_p.G356E|MMRN1_uc011cds.2_Missense_Mutation_p.G795E NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 1053 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TGCCAAAATGGGGGCACGTGC 0.423000 34 19 0 0 9.7654e-05 0 0 ILF2 3608 broad.mit.edu 37 1 153636877 153636877 + Missense_Mutation SNP C G G TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:153636877C>G uc001fcr.3 - 8 732 c.651G>C c.(649-651)caG>caC p.Q217H ILF2_uc010pdy.2_Missense_Mutation_p.Q179H NM_004515 NP_004506 Q12905 ILF2_HUMAN Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA. 217 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CTCACGTGGACTGAGAAGCAT 0.443000 61 21 0 0 0.000375601 0 0 EGFR 1956 broad.mit.edu 37 7 55268925 55268925 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:55268925C>T uc003tqk.3 + 24 3237 c.2991C>T c.(2989-2991)ttC>ttT p.F997F EGFR_uc022adm.1_Silent_p.F997F|EGFR_uc010kzg.2_Silent_p.F952F|EGFR_uc022adn.1_Silent_p.F952F|EGFR_uc011kco.2_Silent_p.F944F NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 997 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACTCCAACTTCTACCGTGCCC 0.527000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 66 45 0 0 0.000509022 0 0 C1QA 712 broad.mit.edu 37 1 22965688 22965688 + Missense_Mutation SNP G A A rs45454296 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:22965688G>A uc001bfy.3 + 2 611 c.526G>A c.(526-528)Gtc>Atc p.V176I NM_015991 NP_057075 P02745 C1QA_HUMAN Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. 176 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTGTCCATCGTCTCCTCCTC 0.602000 34 22 0 0 9.22233e-05 0 0 X97876 0 broad.mit.edu 37 9 66499795 66499795 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:66499795G>A uc004aee.1 + 0 605 c.605G>A c.(604-606)cGc>cAc p.R202H X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). TGCAAGTCGCGCAAGGAGCAG 0.592000 25 7 0 0 0.000422831 0 0 ELMOD1 55531 broad.mit.edu 37 11 107506367 107506367 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:107506367G>A uc010rvs.2 + 5 700 c.296G>A c.(295-297)gGa>gAa p.G99E ELMOD1_uc001pjm.3_Missense_Mutation_p.G99E|ELMOD1_uc010rvt.2_Missense_Mutation_p.G93E NM_018712 NP_061182 Q8N336 ELMD1_HUMAN Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA. 99 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CCTAGGCTGGGAATCTCTCTT 0.433000 24 74 0 0 0.000147903 0 0 PEG3 5178 broad.mit.edu 37 19 57325403 57325403 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:57325403C>T uc002qnu.2 - 6 4758 c.4407G>A c.(4405-4407)gaG>gaA p.E1469E PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.E1440E|PEG3_uc002qnv.2_Silent_p.E1469E|PEG3_uc002qnw.2_Silent_p.E1345E|PEG3_uc002qnx.2_Silent_p.E1343E|PEG3_uc010etr.2_Silent_p.E1469E NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1469 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) CAGCTTTTCCCTCTGGCTCTT 0.527000 57 28 0 0 0.000227799 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24345745 24345745 + RNA SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr19:24345745C>T uc010edb.1 - 0 c.505G>A Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. CAGTCTTTGTCGTTGGAACAG 0.453000 123 101 0 0 0.000147903 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083353 44083353 + Missense_Mutation SNP A T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:44083353A>T uc003bdy.2 - 10 1454 c.1140T>A c.(1138-1140)aaT>aaA p.N380K EFCAB6_uc003bdz.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzi.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.N377K NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.N380K(2) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTACATACCTATTTCTTTTTG 0.299000 133 26 0 0 0.000491102 0 0 DBC1 1620 broad.mit.edu 37 9 121971195 121971195 + Missense_Mutation SNP C T T rs139886257 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:121971195C>T uc004bkc.2 - 6 1403 c.947G>A c.(946-948)cGc>cAc p.R316H NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 316 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTGGGGAGGCGCTTCATAAA 0.512000 14 18 0 0 0.000295444 0 0 SEMA4B 10509 broad.mit.edu 37 15 90760690 90760690 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr15:90760690C>T uc002boy.3 + 2 460 c.177C>T c.(175-177)ttC>ttT p.F59F SEMA4B_uc002boz.3_Silent_p.F59F|SEMA4B_uc010uqd.2_5'UTR|SEMA4B_uc002bpa.3_5'Flank NM_020210 NP_945119 Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA. NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AGCGGCCATTCCTCAGATTCG 0.567000 31 11 0 0 3.86212e-05 0 0 OR2D2 120776 broad.mit.edu 37 11 6913201 6913201 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:6913201G>A uc010rau.2 - 0 531 c.531C>T c.(529-531)ttC>ttT p.F177F NM_003700 NP_003691 Q9H210 OR2D2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTCACAAAAGAAATGAGCAA 0.493000 6 14 0 0 0.000308642 0 0 ACSS3 79611 broad.mit.edu 37 12 81624906 81624906 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr12:81624906G>A uc001szl.1 + 11 1676 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K ACSS3_uc001szm.1_Missense_Mutation_p.E528K|ACSS3_uc001szn.1_Missense_Mutation_p.E211K NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 529 mitochondrion ATP binding|acetate-CoA ligase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTTATACTTTGAAAAATTTCC 0.308000 39 22 0 0 0.000229342 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284312 33284312 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:33284312G>A uc003oeb.3 - 1 534 c.382C>T c.(382-384)Ctt>Ttt p.L128F TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.L128F|ZBTB22_uc021ywm.1_Missense_Mutation_p.L128F NM_005453 NP_005444 O15209 ZBT22_HUMAN Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA. 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCCACTGTAAGGAAGTTGACA 0.577000 121 57 0 0 0.000147903 0 0 GCNT4 51301 broad.mit.edu 37 5 74324725 74324725 + Missense_Mutation SNP G C C TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:74324725G>C uc003kdn.3 - 0 2000 c.1138C>G c.(1138-1140)Ccc>Gcc p.P380A NM_016591 NP_057675 Q9P109 GCNT4_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA. 380 protein O-linked glycosylation Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity p.P380P(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) GTACAACTGGGATAGAAAAAG 0.428000 29 31 0 0 0.000227799 0 0 C11orf70 85016 broad.mit.edu 37 11 101929619 101929619 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:101929619C>T uc001pgp.3 + 2 234 c.201C>T c.(199-201)ttC>ttT p.F67F C11orf70_uc001pgo.3_Silent_p.F67F|C11orf70_uc001pgq.3_Silent_p.F29F NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA. 67 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AGGCTTTTTTCAAAGACCCAA 0.239000 10 26 0 0 0.000409698 0 0 abParts 0 broad.mit.edu 37 14 106667749 106667749 + RNA SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:106667749C>T uc021ser.1 - 1314 c.27178G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCTT 0.562000 52 38 0 0 0.000509022 0 0 CNGB3 54714 broad.mit.edu 37 8 87641291 87641291 + Nonsense_Mutation SNP C A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:87641291C>A uc003ydx.3 - 11 1384 c.1336G>T c.(1336-1338)Gga>Tga p.G446* CNGB3_uc010maj.3_Nonsense_Mutation_p.G308* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 446 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GTAGCTGCTCCAATCACATCT 0.418000 263 10 0.000442599 0.00928309 0.000442599 1 0 DNAJB5 25822 broad.mit.edu 37 9 34996725 34996725 + Silent SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr9:34996725C>T uc011los.2 + 2 1252 c.891C>T c.(889-891)atC>atT p.I297I DNAJB5_uc003zvs.3_Silent_p.I259I|DNAJB5_uc003zvt.3_Silent_p.I225I NM_001135005 NP_036398 O75953 DNJB5_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA. 225 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) GCACCAAGATCACCTTCCCCA 0.567000 9 11 0 0 0.00010058 0 0 ADAM29 11086 broad.mit.edu 37 4 175897512 175897512 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr4:175897512C>T uc003iuc.3 + 4 1506 c.836C>T c.(835-837)cCc>cTc p.P279L ADAM29_uc003iud.3_Missense_Mutation_p.P279L|ADAM29_uc010irr.3_Missense_Mutation_p.P279L|ADAM29_uc011cki.2_Missense_Mutation_p.P279L|ADAM29_uc021xuo.1_Missense_Mutation_p.P279L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 279 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.T278M(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AACATTACGCCCCGGATGCAA 0.433000 65 40 0 0 0.000228196 0 0 CNR2 1269 broad.mit.edu 37 1 24201505 24201505 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:24201505G>A uc021oij.1 - 0 603 c.603C>T c.(601-603)ctC>ctT p.L201L CNR2_uc001bif.3_Silent_p.L201L NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. 201 G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TTCCGGAAAAGAGGAAGGCGA 0.572000 18 13 0 0 0.000151284 0 0 UGT1A1 54658 broad.mit.edu 37 2 234526865 234526865 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr2:234526865G>A uc002vup.3 + 0 575 c.512G>A c.(511-513)gGa>gAa p.G171E UGT1A1_uc010zmv.1_Missense_Mutation_p.G171E NM_019076 NP_061949 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA. 174 Missing (in CN2). bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.F171F(1) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTCGCCAGGGGAATAGCTTGC 0.473000 58 76 0 0 0.000147903 0 0 FAM5C 339479 broad.mit.edu 37 1 190250829 190250829 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr1:190250829G>A uc001gse.1 - 2 520 c.288C>T c.(286-288)ttC>ttT p.F96F FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 96 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAGAGCCAAGGAAATTTCTTC 0.403000 28 15 0 0 7.07596e-05 0 0 MYO18B 84700 broad.mit.edu 37 22 26294364 26294364 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr22:26294364G>A uc003abz.1 + 28 5009 c.4759G>A c.(4759-4761)Gat>Aat p.D1587N MYO18B_uc003aca.1_Missense_Mutation_p.D1468N|MYO18B_uc010guy.1_Missense_Mutation_p.D1469N|MYO18B_uc010guz.1_Missense_Mutation_p.D1467N|MYO18B_uc011aka.1_Missense_Mutation_p.D741N|MYO18B_uc011akb.1_Missense_Mutation_p.D1100N NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1587 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin 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 TGACCTTGAGGATACCTGCGT 0.512000 100 29 0 0 0.000184323 0 0 LIX1 167410 broad.mit.edu 37 5 96432554 96432554 + Missense_Mutation SNP C T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr5:96432554C>T uc003kmy.4 - 4 761 c.521G>A c.(520-522)gGa>gAa p.G174E NM_153234 NP_694966 Q8N485 LIX1_HUMAN Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA. 174 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) TTTTAGGCTTCCATTCCAGTG 0.428000 36 22 0 0 0.000295444 0 0 BMPER 168667 broad.mit.edu 37 7 34097684 34097684 + Missense_Mutation SNP G T T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr7:34097684G>T uc011kap.2 + 10 1315 c.941G>T c.(940-942)tGg>tTg p.W314L NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 314 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGAGAGATGTGGTCCTCTATC 0.517000 68 5 3.59834e-05 0.000785313 3.59834e-05 1 0 ATP2A1 487 broad.mit.edu 37 16 28909731 28909731 + Missense_Mutation SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr16:28909731G>A uc002dro.1 + 13 1907 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E575K|ATP2A1_uc002drp.1_Missense_Mutation_p.E450K NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 575 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GAAGCGAGAGGAAATGGTCCT 0.637000 5 8 0 0 0.000157383 0 0 SCN3B 55800 broad.mit.edu 37 11 123516298 123516298 + Silent SNP G A A TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr11:123516298G>A uc001pza.1 - 2 623 c.216C>T c.(214-216)ttC>ttT p.F72F SCN3B_uc001pzb.1_Silent_p.F72F NM_001040151 NP_060870 Q9NY72 SCN3B_HUMAN Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA. 72 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity p.F72L(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) AACATACAAGGAAATCTTTAC 0.572000 22 35 0 0 0.000270559 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + In_Frame_Del DEL AGC - - rs76272937 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr3:12046124_12046126delAGC uc003bwm.3 + 0 263_265 c.99_101delAGC c.(97-102)caagcg>cag p.A34del SYN2_uc003bwl.1_In_Frame_Del_p.A34del NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 34 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 --- 4 --- --- 2 --- CASP8AP2 9994 broad.mit.edu 37 6 90577612 90577614 + In_Frame_Del DEL GAA - - TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr6:90577612_90577614delGAA uc003pnr.3 + 7 4799_4801 c.4603_4605delGAA c.(4603-4605)gaadel p.E1535del CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_In_Frame_Del_p.E1535del|CASP8AP2_uc011dzz.2_In_Frame_Del_p.E1535del NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA. 1535 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CGTCATAATGGAAAAGTCCAATG 0.414 --- 61 --- --- 50 --- MYBL1 4603 broad.mit.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T - - TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr8:67488453delT uc003xwj.3 - 9 1666 c.1259delA c.(1258-1260)aacfs p.N420fs MYBL1_uc003xwl.3_Frame_Shift_Del_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Del_p.N419fs NM_001080416 NP_001073885 P10243 MYBA_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA. 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) ATTACAAGTGTTTTTTTTCCC 0.403 --- 426 --- --- 7 --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC - - rs5811180 TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr14:105996050_105996052delGCC uc001yrp.1 + 1 1030_1032 c.879_881delGCC c.(877-882)gtgccg>gtg p.P299del abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_In_Frame_Del_p.P299del|BC033241_uc001yrr.3_5'Flank NM_025268 NP_079544 Q9BTD3 TM121_HUMAN Homo sapiens transmembrane protein 121 (TMEM121), mRNA. 299 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 --- 4 --- --- 2 --- PPM1E 22843 broad.mit.edu 37 17 56833457 56833458 + In_Frame_Ins INS - GAACCC GAACCC rs72376816 by1000genomes TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86c5f02f-f988-4ee3-bdb9-f3fe296412ae a0848fec-a319-44c4-9028-4dbaf8b1646b g.chr17:56833457_56833458insGAACCC uc002iwx.3 + 0 226_227 c.99_100insGAACCC c.(97-102)insGAACCC p.43_44insEP PPM1E_uc010ddd.3_5'UTR NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA. 43 11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.E44_S45insPE(1) biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) agccggagccggaacccgaacc 0.673 --- 27 --- --- 9 ---