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 CYP27C1 339761 broad.mit.edu 37 2 127950676 127950676 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:127950676C>T uc002tod.2 - 6 1127 c.996G>A c.(994-996)gtG>gtA p.V332V CYP27C1_uc021vnn.1_Silent_p.V332V NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA. 332 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.V332M(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CTACCTGGATCACGACGAGGT 0.512000 19 17 0 0 0.000958276 0 0 ODF2L 57489 broad.mit.edu 37 1 86818611 86818611 + Silent SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:86818611T>G uc001dll.2 - 16 2186 c.1824A>C c.(1822-1824)atA>atC p.I608I ODF2L_uc001dlp.3_Silent_p.I555I|ODF2L_uc010osg.2_Silent_p.I526I|ODF2L_uc001dlm.2_Silent_p.I592I NM_001007022 NP_001007023 Q9ULJ1 ODF2L_HUMAN Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA. 608 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CCAGATCTAATATTTTAATTT 0.274000 11 15 0 0 0.000219431 0 0 FOXG1 2290 broad.mit.edu 37 14 29237249 29237249 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:29237249G>A uc001wqe.3 + 0 963 c.764G>A c.(763-765)tGg>tAg p.W255* NM_005249 NP_005240 P55316 FOXG1_HUMAN Homo sapiens forkhead box G1 (FOXG1), mRNA. 255 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGCAACTACTGGATGCTGGAC 0.657000 24 11 0 0 0.000978159 0 0 SCTR 6344 broad.mit.edu 37 2 120223413 120223413 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:120223413G>A uc002tma.3 - 4 681 c.455C>T c.(454-456)tCc>tTc p.S152F SCTR_uc002tlz.3_Intron NM_002980 NP_002971 P47872 SCTR_HUMAN Homo sapiens secretin receptor (SCTR), mRNA. 152 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GACCAGGGAGGAGCTGTAGCC 0.612000 42 18 0 0 0.00074312 0 0 FAM83B 222584 broad.mit.edu 37 6 54792370 54792370 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:54792370G>A uc003pck.3 + 3 790 c.674G>A c.(673-675)gGa>gAa p.G225E NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 225 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAATTCCATGGAAAAATGGAA 0.333000 46 18 0 0 0.000295444 0 0 HDLBP 3069 broad.mit.edu 37 2 242206277 242206277 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:242206277G>A uc002waz.3 - 2 181 c.8C>T c.(7-9)tCc>tTc p.S3F HDLBP_uc002wba.3_Missense_Mutation_p.S3F|HDLBP_uc021vzg.1_Missense_Mutation_p.S39F|HDLBP_uc010fzn.1_5'UTR NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 3 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AACTGCAACGGAACTCATGGT 0.433000 97 56 0 0 0.000781405 0 0 FUT10 84750 broad.mit.edu 37 8 33230301 33230301 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:33230301C>T uc011lbi.2 - 4 1550 c.1384G>A c.(1384-1386)Gag>Aag p.E462K FUT10_uc003xjc.3_Missense_Mutation_p.E419K|FUT10_uc003xjd.3_Missense_Mutation_p.E384K|FUT10_uc003xje.3_Missense_Mutation_p.E412K Q6P4F1 FUT10_HUMAN Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA. 412 L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TCTTCTGCCTCCCATCTTTTG 0.453000 14 16 0 0 0.000566183 0 0 TRDN 10345 broad.mit.edu 37 6 123673700 123673700 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:123673700G>A uc003pzj.2 - 20 1671 c.1353C>T c.(1351-1353)acC>acT p.T451T TRDN_uc003pzk.2_Silent_p.T452T|TRDN_uc010kem.2_5'UTR NM_006073 NP_006064 Q13061 TRDN_HUMAN Homo sapiens triadin (TRDN), transcript variant 1, mRNA. 451 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CCACTGTCTTGGTTGTTTTCT 0.398000 0 6 0 0 0.000157383 0 0 TAF1C 9013 broad.mit.edu 37 16 84215594 84215594 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:84215594G>A uc002fhn.3 - 7 1034 c.792C>T c.(790-792)ctC>ctT p.L264L TAF1C_uc010vnz.2_5'UTR|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_5'UTR|TAF1C_uc002fhm.3_Silent_p.L197L|TAF1C_uc010vnx.2_Silent_p.L264L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Silent_p.L264L NM_005679 NP_001230088 Q15572 TAF1C_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA. 264 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 CAGGTCCCTGGAGCTGGATGC 0.557000 13 35 0 0 0.00170553 0 0 ITGA4 3676 broad.mit.edu 37 2 182359477 182359477 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:182359477C>T uc002unu.3 + 11 2040 c.1277C>T c.(1276-1278)tCg>tTg p.S426L NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 426 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATCAGCAAATCGTTAAGTATG 0.308000 33 25 0 0 0.00127121 0 0 USF1 7391 broad.mit.edu 37 1 161010635 161010635 + Silent SNP C G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:161010635C>G uc001fxi.3 - 7 783 c.588G>C c.(586-588)cgG>cgC p.R196R F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Silent_p.R137R NM_007122 NP_996888 P22415 USF1_HUMAN Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA. 196 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.R196L(1) central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GTTTCTCATCCCGAGTCGTCC 0.502000 91 32 0 0 0.00111076 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757303 56757303 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56757303G>A uc010rjp.2 + 0 915 c.915G>A c.(913-915)ggG>ggA p.G305G NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAGTGATAGGGAAAAAGTTAT 0.303000 18 7 0 0 8.12818e-05 0 0 LILRB4 11006 broad.mit.edu 37 19 55179098 55179098 + Missense_Mutation SNP G A A rs146325339 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55179098G>A uc002qgp.3 + 10 1416 c.1054G>A c.(1054-1056)Gat>Aat p.D352N LILRB4_uc002qgq.3_Missense_Mutation_p.D351N|LILRB4_uc010ert.3_Missense_Mutation_p.D393N|LILRB4_uc010eru.3_Missense_Mutation_p.D382N NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 352 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGCCCACACGATGAAGACCC 0.567000 14 13 0 0 0.000422831 0 0 DYSF 8291 broad.mit.edu 37 2 71892337 71892338 + Missense_Mutation DNP CC TT TT rs11558178 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:71892337_71892338CC>TT uc010fen.3 + 46 5361_5362 c.5220_5221CC>TT c.(5218-5223)ctcctc>ctTTtc p.L1741F DYSF_uc010fei.3_Missense_Mutation_p.L1719F|DYSF_uc010feh.3_Missense_Mutation_p.L1709F|DYSF_uc002sig.4_Missense_Mutation_p.L1688F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.L1733F|DYSF_uc010fee.3_Missense_Mutation_p.L1723F|DYSF_uc010fef.3_Missense_Mutation_p.L1740F|DYSF_uc002sie.3_Missense_Mutation_p.L1702F|DYSF_uc010feo.3_Missense_Mutation_p.L1734F|DYSF_uc010fej.3_Missense_Mutation_p.L1710F|DYSF_uc010fel.3_Missense_Mutation_p.L1689F|DYSF_uc010fem.3_Missense_Mutation_p.L1724F|DYSF_uc002sif.3_Missense_Mutation_p.L1703F|DYSF_uc010fek.3_Missense_Mutation_p.L1720F|DYSF_uc010yqy.2_Missense_Mutation_p.L583F|DYSF_uc010yqz.2_Missense_Mutation_p.L463F NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1702 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCTCCCAGCTCCTCCACCTCTT 0.525000 50 30 0 0 6.4e-05 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480236 140480236 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140480236G>A uc003lio.3 + 0 3 c.3G>A c.(1-3)atG>atA p.M1I BC016751_uc003lin.3_Non-coding_Transcript NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 1 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAGTGCAATGGAGGCGGGAG 0.527000 42 25 0 0 0.00127121 0 0 SCN1A 6323 broad.mit.edu 37 2 166897912 166897913 + Missense_Mutation DNP CC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:166897912_166897913CC>AA uc002udo.4 - 14 2470_2471 c.2243_2244GG>TT c.(2242-2244)tgg>tTT p.W748F SCN1A_uc010fpk.3_Missense_Mutation_p.W720F|SCN1A_uc021vsb.1_Missense_Mutation_p.W737F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 748 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GAGAACAGTCCCAGATTAAGAA 0.366000 105 7 0 0 6.4e-05 0 0 CFB 629 broad.mit.edu 37 6 31918441 31918442 + Missense_Mutation DNP CC AA AA rs1803304 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31918441_31918442CC>AA uc003nyj.4 + 12 1948_1949 c.1670_1671CC>AA c.(1669-1671)ccc>cAA p.P557Q CFB_uc011dor.2_Missense_Mutation_p.P1059Q NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 557 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CTATTTCACCCCAACTACAACA 0.470000 470 18 0 0 6.4e-05 0 0 MIB1 57534 broad.mit.edu 37 18 19399522 19399522 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:19399522C>T uc002ktq.3 + 11 1744 c.1744C>T c.(1744-1746)Ctt>Ttt p.L582F MIB1_uc002ktp.3_Missense_Mutation_p.L221F NM_020774 NP_065825 Q86YT6 MIB1_HUMAN Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA. 582 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CCTAGCAGTTCTTTTGGAAGC 0.383000 86 36 0 0 0.00111076 0 0 GBE1 2632 broad.mit.edu 37 3 81699050 81699050 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:81699050C>T uc021xav.1 - 3 734 c.452G>A c.(451-453)gGa>gAa p.G151E GBE1_uc021xax.1_Missense_Mutation_p.G110E NM_000158 NP_000149 Q04446 GLGB_HUMAN Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA. 151 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CAAGATCTCTCCGCTTTTACT 0.363000 Glycogen Storage Disease, type IV 15 22 0 0 0.000295444 0 0 CSMD1 64478 broad.mit.edu 37 8 3046477 3046477 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:3046477G>A uc022aqr.1 - 34 5845 c.5455C>T c.(5455-5457)Cct>Tct p.P1819S CSMD1_uc011kwj.2_Missense_Mutation_p.P1212S|CSMD1_uc003wqe.3_Missense_Mutation_p.P976S|CSMD1_uc010lrg.3_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1820 CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATGGCTCAGGGTAGCCGGGG 0.473000 11 10 0 0 0.000442599 0 0 ZMYND15 84225 broad.mit.edu 37 17 4646597 4646597 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:4646597G>A uc002fyu.2 + 5 1175 c.1145_splice c.e5-1 p.E382_splice ZMYND15_uc002fyv.2_Splice_Site_p.E382_splice|ZMYND15_uc002fyt.2_Splice_Site_p.E382_splice NM_001136046 NP_001129518 Q9H091 ZMY15_HUMAN Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA. 382 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 TCCTTCTCCAGAGGTGACCAG 0.542000 75 57 0 0 0.000781405 0 0 GBP4 115361 broad.mit.edu 37 1 89655736 89655736 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:89655736G>A uc001dnb.3 - 6 1298 c.1182C>T c.(1180-1182)ttC>ttT p.F394F NM_052941 NP_443173 Q96PP9 GBP4_HUMAN Homo sapiens guanylate binding protein 4 (GBP4), mRNA. 394 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GCTTCTTCTGGAATTCATGGT 0.478000 33 18 0 0 0.000295444 0 0 SPG21 51324 broad.mit.edu 37 15 65262497 65262498 + Missense_Mutation DNP CG AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:65262497_65262498CG>AT uc002aod.3 - 5 608_609 c.515_516CG>AT c.(514-516)ccg>cAT p.P172H SPG21_uc002aoe.3_Missense_Mutation_p.P172H|SPG21_uc010bhb.3_Missense_Mutation_p.P145H NM_001127889 NP_057714 Q9NZD8 SPG21_HUMAN Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA. 172 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding p.P172Q(2) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 TAGGGTCCACCGGGCCAGATGA 0.396000 324 9 0 0 6.4e-05 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31982865 31982865 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:31982865G>A uc010gek.3 - 2 486 c.362C>T c.(361-363)tCc>tTc p.S121F CDK5RAP1_uc002wyy.3_Missense_Mutation_p.S31F|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.S121F|CDK5RAP1_uc002wza.3_Missense_Mutation_p.S121F|CDK5RAP1_uc010gel.3_Missense_Mutation_p.S31F|CDK5RAP1_uc010gem.3_Missense_Mutation_p.S121F|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.S121F|CDK5RAP1_uc010gen.3_Missense_Mutation_p.S121F NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA. 121 CDK5 activation inhibition.|MTTase N-terminal. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CTGTAAGATGGACCAGGCTAT 0.493000 79 54 0 0 0.000781405 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140229941 140229941 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140229941C>T uc003lhu.2 + 0 2585 c.1861C>T c.(1861-1863)Ccg>Tcg p.P621S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.P621S NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 632 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGAGCATCCCGTTCCGCGT 0.662000 25 30 0 0 0.00058488 0 0 MAK 4117 broad.mit.edu 37 6 10784762 10784762 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:10784762C>T uc021ylk.1 - 10 1642 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.E454K|MAK_uc021yll.1_Missense_Mutation_p.E454K NM_001242957 NP_001229886 P20794 MAK_HUMAN Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA. 454 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) CTCTTGTTTTCCCCTGTCGAG 0.463000 63 67 0 0 0.000781405 0 0 EGF 1950 broad.mit.edu 37 4 110880567 110880567 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:110880567T>A uc003hzy.4 + 5 1492 c.1040T>A c.(1039-1041)cTa>cAa p.L347Q EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Missense_Mutation_p.L347Q NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 347 EGF-like 1. DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGATACGCCCTAAGTCGAGAC 0.512000 12 11 0 0 0.00136819 0 0 NR1H4 9971 broad.mit.edu 37 12 100926345 100926345 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:100926345G>A uc001tht.2 + 2 613 c.585G>A c.(583-585)agG>agA p.R195R NR1H4_uc001thq.2_Silent_p.R185R|NR1H4_uc001thp.2_Silent_p.R185R|NR1H4_uc001thr.2_Silent_p.R185R|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Silent_p.R195R NM_001206993 NP_001193922 Q96RI1 NR1H4_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA. 195 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.E195K(1) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 GTCGACTAAGGAAATGCAAAG 0.403000 10 63 0 0 0.000781405 0 0 GJA3 2700 broad.mit.edu 37 13 20716951 20716951 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:20716951G>A uc001umx.1 - 1 649 c.477C>T c.(475-477)ttC>ttT p.F159F GJA3_uc021rgz.1_Silent_p.F159F NM_021954 NP_068773 Q9Y6H8 CXA3_HUMAN Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA. 159 cell-cell signaling|visual perception connexon complex|integral to membrane p.F159F(2) NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) AGCCCACCTCGAACAGCGTCT 0.652000 21 17 0 0 0.000566183 0 0 ZNF782 158431 broad.mit.edu 37 9 99580959 99580959 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:99580959G>A uc004awp.1 - 5 1627 c.1346C>T c.(1345-1347)cCa>cTa p.P449L ZNF782_uc011lup.1_Missense_Mutation_p.P317L NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN Homo sapiens zinc finger protein 782 (ZNF782), mRNA. 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ACATTCGAATGGTTTCTCCCC 0.413000 22 52 0 0 0.000781405 0 0 FKBPL 63943 broad.mit.edu 37 6 32097170 32097171 + Missense_Mutation DNP CC AA AA rs141060542 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:32097170_32097171CC>AA uc003nzr.3 - 1 657_658 c.387_388GG>TT c.(385-390)ttgggg>ttTTgg p.129_130LG>FW ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.129_130LG>FW NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 129 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity AAAGGAAACCCCAAAGCCAGTA 0.569000 510 13 0 0 6.4e-05 0 0 OR4K2 390431 broad.mit.edu 37 14 20344685 20344685 + Missense_Mutation SNP A C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20344685A>C uc001vwh.1 + 0 259 c.259A>C c.(259-261)Aca>Cca p.T87P NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T87R(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGATTACCTAACAGGTCACAA 0.413000 103 28 0 0 0.00106085 0 0 SMPD4 55627 broad.mit.edu 37 2 130930247 130930247 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:130930247G>A uc002tqq.2 - 6 1724 c.575C>T c.(574-576)cCg>cTg p.P192L SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Missense_Mutation_p.P60L|SMPD4_uc002tqr.2_Missense_Mutation_p.P192L|SMPD4_uc010zaa.2_Missense_Mutation_p.P79L|SMPD4_uc010zab.2_Missense_Mutation_p.P119L|SMPD4_uc002tqt.2_Missense_Mutation_p.P70L|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 153 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) atactcGAACGGATCTGAGAG 0.587000 56 29 0 0 0.000339439 0 0 APBB2 323 broad.mit.edu 37 4 40832494 40832494 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:40832494C>T uc003gvn.3 - 12 2260 c.1630G>A c.(1630-1632)Gag>Aag p.E544K APBB2_uc010ifu.3_Missense_Mutation_p.E115K|APBB2_uc003gvl.3_Missense_Mutation_p.E543K|APBB2_uc003gvm.3_Missense_Mutation_p.E522K|APBB2_uc003gvk.3_5'UTR|APBB2_uc021xnt.1_5'UTR NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 543 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GAGCAGATCTCGTGGAGACTT 0.468000 21 18 0 0 0.000375601 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886022 88886023 + Nonsense_Mutation DNP GG AA AA rs148443990 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:88886022_88886023GG>AA uc003ydz.3 - 0 274_275 c.177_178CC>TT c.(175-180)gtccag>gtTTag p.Q60* NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 60 p.Q60*(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTATGAATCTGGACCTTTTTCC 0.505000 41 24 0 0 6.4e-05 0 0 PRSS1 5644 broad.mit.edu 37 7 142459835 142459835 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142459835G>A uc003wak.2 + 2 428 c.411G>A c.(409-411)acG>acA p.T137T TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.T77T NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 137 Peptidase S1. T -> M (in a colorectal cancer sample; somatic mutation). digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.T137T(4)|p.T137M(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACTGGCACGAAGTGCCTCA 0.552000 41 26 0 0 0.00106085 0 0 DNAH5 1767 broad.mit.edu 37 5 13776791 13776791 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:13776791C>T uc003jfd.2 - 54 9172 c.9130G>A c.(9130-9132)Gaa>Aaa p.E3044K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3044 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCATCAATTTCATCTCGAGCA 0.393000 Kartagener syndrome 22 12 0 0 0.00136819 0 0 BCAS1 8537 broad.mit.edu 37 20 52601967 52601967 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:52601967G>A uc002xws.2 - 6 1337 c.999C>T c.(997-999)acC>acT p.T333T BCAS1_uc010zza.1_Silent_p.T91T|BCAS1_uc010zzb.1_Silent_p.T281T|BCAS1_uc010gim.2_Silent_p.T281T|BCAS1_uc002xwt.2_Silent_p.T333T|BCAS1_uc010gil.1_Silent_p.T333T NM_003657 NP_003648 O75363 BCAS1_HUMAN Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA. 333 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CAGCCCCTTGGGTCTCCTGGG 0.498000 51 38 0 0 0.000509022 0 0 OR2A25 392138 broad.mit.edu 37 7 143771381 143771381 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143771381G>A uc011ktx.2 + 0 69 c.69G>A c.(67-69)caG>caA p.Q23Q NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CAAGGATTCAGATGCTCCTCT 0.517000 42 22 0 0 0.000229342 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353807 77353807 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:77353807G>A uc002ffc.4 - 15 2890 c.2471C>T c.(2470-2472)tCt>tTt p.S824F ADAMTS18_uc010chc.1_Missense_Mutation_p.S412F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S520F NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 824 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCGGTTGAAAGAGCGCTGGTA 0.557000 5 16 0 0 0.000566183 0 0 GPR6 2830 broad.mit.edu 37 6 110300401 110300402 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:110300401_110300402GG>AA uc011eav.2 + 2 375_376 c.131_132GG>AA c.(130-132)ggg>gAA p.G44E GPR6_uc011eaw.2_Missense_Mutation_p.G29E|GPR6_uc003ptu.3_Missense_Mutation_p.G29E|GPR6_uc021zds.1_Missense_Mutation_p.G29E NM_005284 NP_005275 P46095 GPR6_HUMAN Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA. 29 integral to plasma membrane p.L44I(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) acagcagcaggggggccggACA 0.723000 1 24 0 0 6.4e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9084604 9084604 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9084604G>T uc002mkp.3 - 0 7415 c.7211C>A c.(7210-7212)tCc>tAc p.S2404Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2404 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGAGATGGGGAGGAACTTGC 0.458000 13 13 1.61879e-10 9.61605e-10 0.00136819 1 0 HTRA3 94031 broad.mit.edu 37 4 8288468 8288468 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:8288468C>T uc003gla.3 + 2 873 c.666C>T c.(664-666)atC>atT p.I222I HTRA3_uc003gkz.3_Silent_p.I222I NM_053044 NP_444272 P83110 HTRA3_HUMAN Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA. 222 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 TCAAAGACATCGACAAGAAGT 0.612000 26 22 0 0 0.000295444 0 0 PDE11A 50940 broad.mit.edu 37 2 178534251 178534251 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:178534251C>T uc002ulq.3 - 17 2850 c.2532G>A c.(2530-2532)cgG>cgA p.R844R PDE11A_uc002ulp.3_Silent_p.R400R|PDE11A_uc002ulr.3_Silent_p.R594R|PDE11A_uc010zfd.2_Silent_p.R35R|PDE11A_uc002uls.1_Silent_p.R486R|PDE11A_uc002ult.1_Silent_p.R594R|PDE11A_uc002ulu.1_Silent_p.R486R NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 844 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.R844L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTAATCTCTCCCGATCTCCTT 0.353000 Primary Pigmented Nodular Adrenocortical Disease, Familial 68 29 0 0 0.000409698 0 0 CLDN11 5010 broad.mit.edu 37 3 170150515 170150515 + Missense_Mutation SNP C T T rs144303681 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:170150515C>T uc003fgx.3 + 2 797 c.595C>T c.(595-597)Ccg>Tcg p.P199S CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Missense_Mutation_p.P115S NM_005602 NP_001171985 O75508 CLD11_HUMAN Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. 199 RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CTCTAGCTCCCCGACTCATGC 0.607000 35 28 0 0 0.000409698 0 0 DDX27 55661 broad.mit.edu 37 20 47858689 47858689 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:47858689C>T uc002xuh.3 + 17 2216 c.2155C>T c.(2155-2157)Cgc>Tgc p.R719C NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA. 719 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGAGGAATCGCAGAGCCAA 0.572000 34 20 0 0 0.00121646 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664920 176664920 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:176664920C>T uc001gkz.3 + 6 3835 c.2671C>T c.(2671-2673)Cgt>Tgt p.R891C PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 891 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGGACCTTTCGTCAGTATGT 0.532000 26 48 0 0 0.000781405 0 0 BRWD1 54014 broad.mit.edu 37 21 40649245 40649245 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:40649245G>A uc002yxk.2 - 10 1331 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y BRWD1_uc021wjf.1_Missense_Mutation_p.H346Y|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.H66Y NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTGATTACATGATCAGTACTA 0.333000 22 13 0 0 0.000219431 0 0 KYNU 8942 broad.mit.edu 37 2 143743579 143743579 + Silent SNP G A A rs140758594 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:143743579G>A uc010fnm.3 + 10 1107 c.891G>A c.(889-891)acG>acA p.T297T KYNU_uc002tvk.3_Silent_p.T297T|KYNU_uc002tvl.3_Silent_p.T297T NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 297 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity p.T297T(4) large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATGCCCATACGATTAAACCTG 0.328000 3 7 0 0 0.000157383 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149214868 149214869 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:149214868_149214869CC>TT uc003lrc.3 + 6 1838_1839 c.1747_1748CC>TT c.(1747-1749)cca>TTa p.P583L PPARGC1B_uc003lrb.2_Missense_Mutation_p.P583L|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P544L|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P519L|PPARGC1B_uc003lre.1_Missense_Mutation_p.P562L|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P562L NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 583 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CACCAGCGACCCAACTTTTGGC 0.584000 88 35 0 0 6.4e-05 0 0 MYLK 4638 broad.mit.edu 37 3 123512611 123512611 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:123512611G>A uc003ego.3 - 3 360 c.78C>T c.(76-78)tcC>tcT p.S26S MYLK_uc011bjw.2_Silent_p.S26S|MYLK_uc003egp.3_Silent_p.S26S|MYLK_uc003egq.3_Silent_p.S26S|MYLK_uc003egr.3_Silent_p.S26S|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.S26S|MYLK_uc003egu.1_Silent_p.S36S NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 26 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAGGGGCATGGAGTCAACTC 0.547000 23 22 0 0 0.000229342 0 0 AOC3 8639 broad.mit.edu 37 17 41003627 41003628 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:41003627_41003628CC>TT uc002ibv.3 + 0 427_428 c.267_268CC>TT c.(265-270)gcccgg>gcTTgg p.R90W NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 90 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CAGCCCAGGCCCGGCCCTCGGA 0.668000 70 49 0 0 6.4e-05 0 0 LOC494141 494141 broad.mit.edu 37 11 18231202 18231202 + RNA SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:18231202G>A uc009yhh.3 + 1 c.226G>A LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA. AAAAAAAAAAGAAAAAGTCCT 0.328000 16 6 0 0 0.000274275 0 0 TGM7 116179 broad.mit.edu 37 15 43568793 43568793 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:43568793C>T uc001zrf.1 - 12 1998 c.1993G>A c.(1993-1995)Gga>Aga p.G665R NM_052955 NP_443187 Q96PF1 TGM7_HUMAN Homo sapiens transglutaminase 7 (TGM7), mRNA. 665 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AGGGTGTGTCCGGCCACCAGA 0.592000 56 34 0 0 0.00170553 0 0 NEK9 91754 broad.mit.edu 37 14 75574166 75574166 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:75574166G>A uc001xrl.3 - 10 1361 c.1207C>T c.(1207-1209)Cat>Tat p.H403Y NEK9_uc001xrk.3_5'UTR NM_033116 NP_149107 Q8TD19 NEK9_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA. 403 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) AGCTGACCATGGAGTTTAGTG 0.398000 30 27 0 0 0.00127121 0 0 ZP2 7783 broad.mit.edu 37 16 21214493 21214493 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:21214493G>A uc010bwn.1 - 9 1251 c.1169C>T c.(1168-1170)tCc>tTc p.S390F ZP2_uc002dii.2_Missense_Mutation_p.S351F NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 351 ZP. 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) GATCACCATGGATACTGTCTC 0.403000 27 16 0 0 0.00074312 0 0 PSG7 5676 broad.mit.edu 37 19 43430819 43430819 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43430819C>T uc002ovl.4 - 4 858 c.756G>A c.(754-756)gaG>gaA p.E252E PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.E131E NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 253 Ig-like C2-type 2. female pregnancy extracellular region Prostate(69;0.00682) CATCCTTATTCTCCCTGGGGT 0.483000 107 50 0 0 0.000781405 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938476 2938476 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:2938476G>A uc001ajz.3 + 0 431 c.226G>A c.(226-228)Gag>Aag p.E76K NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 76 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTCCCCTTTCGAGCGTGGCCT 0.602000 29 17 0 0 0.00074312 0 0 GTF3C1 2975 broad.mit.edu 37 16 27519910 27519910 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:27519910A>T uc002dov.2 - 7 1233 c.1193T>A c.(1192-1194)cTa>cAa p.L398Q GTF3C1_uc002dou.3_Missense_Mutation_p.L398Q NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 398 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCTTGCTTCTAGTTTTCCCAC 0.468000 42 39 0 0 0.00128727 0 0 OR1B1 347169 broad.mit.edu 37 9 125391741 125391741 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:125391741G>A uc011lyz.2 - 0 74 c.74C>T c.(73-75)tCc>tTc p.S25F NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 GAGAGTGTAGGAGATGTTAGC 0.512000 6 17 0 0 0.00074312 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140865602 140865602 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140865602C>T uc003lky.2 + 0 862 c.862C>T c.(862-864)Cgt>Tgt p.R288C PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.R288C NM_018928 NP_061751 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA. 288 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCCCTGATCGTGTAAGAAA 0.512000 65 42 0 0 0.000781405 0 0 TRIML2 205860 broad.mit.edu 37 4 189020237 189020237 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:189020237G>A uc011cle.1 - 3 795 c.573C>T c.(571-573)atC>atT p.I191I TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.I141I|TRIML2_uc011clf.1_Silent_p.I191I NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 141 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CAAGCTCCACGATGAGCTTTA 0.478000 58 35 0 0 0.000814825 0 0 PCDH12 51294 broad.mit.edu 37 5 141337251 141337251 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:141337251C>T uc003llx.3 - 0 1377 c.166G>A c.(166-168)Gag>Aag p.E56K NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN Homo sapiens protocadherin 12 (PCDH12), mRNA. 56 Cadherin 1. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTCTCCTCCCGGCCCAGT 0.602000 61 48 0 0 0.000781405 0 0 POTED 317754 broad.mit.edu 37 21 15013906 15013906 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:15013906G>A uc002yjb.1 + 11 1826 c.1774_splice c.e11+1 NM_174981 NP_778146 Q86YR6 POTED_HUMAN Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA. plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GACAGCTTAGGATTTTGACAA 0.368000 15 15 0 0 0.000958276 0 0 FAAH2 158584 broad.mit.edu 37 X 57473420 57473420 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:57473420G>A uc004dvc.3 + 8 1325 c.1176G>A c.(1174-1176)tgG>tgA p.W392* NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 392 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GTCCTCTGTGGGAGTTGATCA 0.393000 HNSCC(52;0.14) 0 5 0 0 0.00116845 0 0 XRCC5 7520 broad.mit.edu 37 2 217001835 217001835 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:217001835C>T uc002vfy.3 + 10 1278 c.1138C>T c.(1138-1140)Ctg>Ttg p.L380L XRCC5_uc002vfz.3_Silent_p.L266L NM_021141 NP_066964 P13010 XRCC5_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA. 380 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) ACTTTCCTCCCTGATTCATGC 0.408000 Non-homologous end-joining 57 29 0 0 0.00178596 0 0 FBXO38 81545 broad.mit.edu 37 5 147796606 147796606 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:147796606C>T uc003lpf.1 + 11 1577 c.1457C>T c.(1456-1458)tCa>tTa p.S486L FBXO38_uc003lpg.1_Missense_Mutation_p.S486L|FBXO38_uc003lph.2_Missense_Mutation_p.S486L NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 486 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTTTCATCAGCTCTTGTT 0.413000 15 5 0 0 8.12818e-05 0 0 SNX20 124460 broad.mit.edu 37 16 50707821 50707821 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:50707821G>A uc002egk.2 - 3 620 c.447C>T c.(445-447)ttC>ttT p.F149F SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA. 149 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 TCTCCTCAGCGAAGTTCCCAG 0.617000 19 19 0 0 0.000229342 0 0 CNTN5 53942 broad.mit.edu 37 11 100141950 100141950 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:100141950G>A uc001pga.3 + 17 2795 c.2291G>A c.(2290-2292)cGa>cAa p.R764Q CNTN5_uc001pfz.3_Missense_Mutation_p.R764Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R764Q|CNTN5_uc021qpc.1_Missense_Mutation_p.R690Q|CNTN5_uc010ruk.2_Missense_Mutation_p.R35Q NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 764 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding p.R764*(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCCCATCTCGAATGATCCGC 0.448000 17 12 0 0 0.000978159 0 0 AKT3 10000 broad.mit.edu 37 1 243675635 243675635 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:243675635G>A uc001iab.2 - 11 1457 c.1345C>T c.(1345-1347)Cct>Tct p.P449S AKT3_uc001hzz.1_Missense_Mutation_p.P449S|AKT3_uc021plu.1_Missense_Mutation_p.P449S NM_005465 NP_005456 Q9Y243 AKT3_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) (AKT3), transcript variant 1, mRNA. 449 AGC-kinase C-terminal. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CATTTTTCAGGTGGTGTTATT 0.284000 54 18 0 0 0.000566183 0 0 OR8H2 390151 broad.mit.edu 37 11 55872560 55872560 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55872560C>T uc010riy.2 + 0 42 c.42C>T c.(40-42)atC>atT p.I14I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CTGACTTCATCCTTATGGGAC 0.433000 HNSCC(53;0.14) 60 45 0 0 0.000781405 0 0 TLL1 7092 broad.mit.edu 37 4 166924680 166924680 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:166924680G>A uc003irh.2 + 5 1417 c.770G>A c.(769-771)cGa>cAa p.R257Q TLL1_uc021xud.1_Missense_Mutation_p.R257Q|TLL1_uc011cjn.2_Missense_Mutation_p.R257Q|TLL1_uc011cjo.2_Missense_Mutation_p.R81Q NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 257 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGACCAGATCGAGATAACCAC 0.408000 14 10 0 0 0.000442599 0 0 EMP1 2012 broad.mit.edu 37 12 13366698 13366698 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:13366698T>G uc001rbr.3 + 3 506 c.259T>G c.(259-261)Ttc>Gtc p.F87V EMP1_uc009zhy.3_Missense_Mutation_p.F20V|EMP1_uc010shr.1_Missense_Mutation_p.F87V NM_001423 NP_001414 P54849 EMP1_HUMAN Homo sapiens epithelial membrane protein 1 (EMP1), mRNA. 87 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) GTTCCAGCTCTTCACCATGGA 0.507000 12 68 0 0 0.000781405 0 0 BCR 613 broad.mit.edu 37 22 23615826 23615827 + Missense_Mutation DNP GC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:23615826_23615827GC>AA uc002zww.3 + 7 2576_2577 c.1980_1981GC>AA c.(1978-1983)ttgctg>ttAAtg p.L661M BCR_uc002zwx.3_Missense_Mutation_p.L661M|BCR_uc011aiy.2_Missense_Mutation_p.L250M|BCR_uc010gtx.1_Missense_Mutation_p.L128M NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 661 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GGCAGGACTTGCTGAAGCACAC 0.574000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 38 21 0 0 6.4e-05 0 0 ZNF831 128611 broad.mit.edu 37 20 57769222 57769222 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:57769222G>A uc002yan.3 + 0 3148 c.3148G>A c.(3148-3150)Gag>Aag p.E1050K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1050 intracellular nucleic acid binding|zinc ion binding p.E1050D(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCTCCCAGGGAGGCTACCTC 0.637000 5 6 0 0 0.00116845 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183590 11183590 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:11183590G>A uc001qzo.1 - 0 417 c.345C>T c.(343-345)aaC>aaT p.N115N PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_176885 NP_795366 P59538 T2R31_HUMAN Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA. 115 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GAAAAATAAGGTTGGAGAAAT 0.398000 67 62 0 0 0.000781405 0 0 MLL5 55904 broad.mit.edu 37 7 104741913 104741913 + Silent SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:104741913T>C uc003vcm.3 + 15 2298 c.1764T>C c.(1762-1764)ttT>ttC p.F588F MLL5_uc010ljc.3_Silent_p.F588F|MLL5_uc010lje.1_Non-coding_Transcript NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA. 588 DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 63 TGCAAGCTTTTGCCAGACTTG 0.313000 39 30 0 0 0.000339439 0 0 BMP1 649 broad.mit.edu 37 8 22052092 22052092 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:22052092C>T uc003xbg.3 + 10 1698 c.1432C>T c.(1432-1434)Cag>Tag p.Q478* BMP1_uc003xbf.3_Nonsense_Mutation_p.Q227*|BMP1_uc003xbb.3_Nonsense_Mutation_p.Q478*|BMP1_uc003xbc.3_Nonsense_Mutation_p.Q227*|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Nonsense_Mutation_p.Q227*|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 478 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CCTCACATTCCAGTCCTTTGA 0.582000 39 26 0 0 0.00178596 0 0 LRRC36 55282 broad.mit.edu 37 16 67399213 67399213 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:67399213G>A uc002esv.3 + 6 728 c.709G>A c.(709-711)Gaa>Aaa p.E237K LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Missense_Mutation_p.E116K|LRRC36_uc002esx.3_Missense_Mutation_p.E116K|LRRC36_uc010vjk.2_Missense_Mutation_p.E116K|LRRC36_uc010vjl.2_Intron NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA. 237 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TTAGACACAGGAAGTAGCAAG 0.403000 12 7 0 0 0.000442599 0 0 CFH 3075 broad.mit.edu 37 1 196694307 196694307 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196694307G>A uc001gtj.4 + 11 1993 c.1753G>A c.(1753-1755)Gac>Aac p.D585N CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 585 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TCGCAAGAAAGACCAGTATAA 0.353000 4 13 0 0 0.00136819 0 0 ALPK3 57538 broad.mit.edu 37 15 85383214 85383214 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:85383214C>T uc002ble.3 + 4 1477 c.1310C>T c.(1309-1311)cCc>cTc p.P437L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 437 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCGCCGGGCCCCTCGGTCCCT 0.667000 7 14 0 0 0.000151284 0 0 CDKAL1 54901 broad.mit.edu 37 6 21065409 21065410 + Missense_Mutation DNP CC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:21065409_21065410CC>AA uc003ndd.2 + 11 1353_1354 c.1186_1187CC>AA c.(1186-1188)cca>AAa p.P396K CDKAL1_uc003nde.2_Missense_Mutation_p.P326K|CDKAL1_uc021ymk.1_Missense_Mutation_p.P396K|CDKAL1_uc003ndf.2_5'UTR NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA. 396 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CCAATTTTACCCAAGACCAGGA 0.371000 527 12 0 0 6.4e-05 0 0 ANO3 63982 broad.mit.edu 37 11 26681885 26681885 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:26681885G>A uc001mqt.4 + 26 2985 c.2840G>A c.(2839-2841)cGa>cAa p.R947Q ANO3_uc010rdr.2_Missense_Mutation_p.R931Q|ANO3_uc010rds.2_Missense_Mutation_p.R786Q|ANO3_uc010rdt.2_Missense_Mutation_p.R801Q NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN Homo sapiens anoctamin 3 (ANO3), mRNA. 947 chloride channel complex chloride channel activity p.R947*(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GACCGAATACGACGAGAGAAG 0.413000 3 19 0 0 0.00074312 0 0 PALMD 54873 broad.mit.edu 37 1 100155120 100155120 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:100155120G>A uc001dsg.3 + 6 1747 c.1304G>A c.(1303-1305)gGa>gAa p.G435E NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 435 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TTTCTGACAGGATATGATGGG 0.478000 9 10 0 0 0.000673444 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99662229 99662229 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:99662229G>A uc003uso.3 + 3 1555 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K ZSCAN21_uc003usn.1_Silent_p.E435E|ZNF3_uc003usp.3_3'UTR NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA. 471 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGGAGAGGGAGAAGCACCGTA 0.468000 39 24 0 0 0.000375601 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202572 118202572 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:118202572C>T uc001lcl.4 + 2 311 c.210C>T c.(208-210)atC>atT p.I70I NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA. 70 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) AACAGGAGATCAGTGCGGTTA 0.358000 4 7 0 0 8.12818e-05 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904478 74904478 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:74904478C>T uc001owb.3 + 8 1686 c.1291C>T c.(1291-1293)Ctg>Ttg p.L431L SLCO2B1_uc010rrq.2_Silent_p.L176L|SLCO2B1_uc010rrr.2_Silent_p.L287L|SLCO2B1_uc010rrs.2_Silent_p.L315L|SLCO2B1_uc001owc.3_Silent_p.L204L|SLCO2B1_uc001owd.3_Silent_p.L409L NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 431 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GGGTGGCGTCCTGGTCAAGCG 0.632000 25 21 0 0 0.000295444 0 0 HAPLN2 60484 broad.mit.edu 37 1 156594495 156594495 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:156594495G>A uc001fpn.1 + 5 1066 c.659G>A c.(658-660)cGg>cAg p.R220Q NM_021817 NP_068589 Q9GZV7 HPLN2_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA. 220 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCGAGGCCGGCCCGGGATC 0.741000 10 6 0 0 0.00116845 0 0 CFHR2 3080 broad.mit.edu 37 1 196918710 196918710 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196918710C>T uc001gtq.1 + 1 261 c.184C>T c.(184-186)Cct>Tct p.P62S CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 62 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TTTTGTGTCTCCTTCAAAATC 0.383000 19 37 0 0 0.000953801 0 0 L1TD1 54596 broad.mit.edu 37 1 62675517 62675517 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:62675517C>T uc021ooc.1 + 4 1506 c.1071C>T c.(1069-1071)ttC>ttT p.F357F L1TD1_uc001dae.4_Silent_p.F357F NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 357 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 GCTTGAGCTTCCTATTTCTTA 0.378000 97 64 0 0 0.000781405 0 0 MATR3 9782 broad.mit.edu 37 5 138661307 138661307 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:138661307C>T uc003ldw.3 + 13 2874 c.2471C>T c.(2470-2472)cCa>cTa p.P824L MATR3_uc003ldt.3_Missense_Mutation_p.P438L|MATR3_uc003ldu.3_Missense_Mutation_p.P776L|MATR3_uc010jfb.3_Missense_Mutation_p.P776L|MATR3_uc003ldx.3_Missense_Mutation_p.P776L|MATR3_uc003ldz.3_Missense_Mutation_p.P776L|MATR3_uc011czb.2_Missense_Mutation_p.P488L|MATR3_uc003leb.3_Missense_Mutation_p.P438L|MATR3_uc003lec.3_Missense_Mutation_p.P453L NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 776 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TATACAATCCCAGATGAGTAT 0.418000 32 28 0 0 0.00178596 0 0 SPPL2B 56928 broad.mit.edu 37 19 2345312 2345312 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:2345312C>T uc002lvs.3 + 13 1415 c.1335C>T c.(1333-1335)ttC>ttT p.F445F SPPL2B_uc002lvr.3_Silent_p.F445F NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA. 446 Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTATACTTCGTGGCCTGCA 0.647000 20 9 0 0 0.000673444 0 0 C1orf127 148345 broad.mit.edu 37 1 11015072 11015072 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:11015072G>A uc010oao.2 - 8 950 c.950C>T c.(949-951)cCg>cTg p.P317L C1orf127_uc001ars.2_Missense_Mutation_p.P178L|C1orf127_uc001arr.2_Missense_Mutation_p.P160L NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 168 p.S317S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCCGGCCGCCGGAATGCTGAC 0.557000 20 18 0 0 0.000375601 0 0 EFR3A 23167 broad.mit.edu 37 8 133014007 133014007 + Splice_Site SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:133014007T>C uc003yte.3 + 20 2362 c.2158_splice c.e20-1 p.V720_splice NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 720 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTTCTCTAGGTTAGTAACACT 0.303000 52 32 0 0 0.00058488 0 0 CCDC68 80323 broad.mit.edu 37 18 52608269 52608269 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:52608269C>T uc002lfs.3 - 3 335 c.163G>A c.(163-165)Gaa>Aaa p.E55K CCDC68_uc002lft.3_Missense_Mutation_p.E55K NM_001143829 NP_079490 Q9H2F9 CCD68_HUMAN Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA. 55 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TGTCTTATTTCATCTTTAAAC 0.323000 29 14 0 0 0.000219431 0 0 SOX6 55553 broad.mit.edu 37 11 16071335 16071335 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:16071335G>A uc001mme.3 - 10 1473 c.1440C>T c.(1438-1440)ccC>ccT p.P480P SOX6_uc001mmd.3_Silent_p.P429P|SOX6_uc001mmf.3_Silent_p.P426P|SOX6_uc001mmg.3_Silent_p.P467P NM_001145819 NP_001139291 P35712 SOX6_HUMAN Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA. 467 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TTCCTCCAATGGGGCTAGGGA 0.488000 4 30 0 0 0.000491102 0 0 OR7E24 26648 broad.mit.edu 37 19 9361851 9361851 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9361851C>T uc002mlb.1 + 0 132 c.132C>T c.(130-132)gtC>gtT p.V44V NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TGCAGCCGGTCCTCGCTGGGC 0.577000 14 8 0 0 0.000274275 0 0 PREX2 80243 broad.mit.edu 37 8 69009299 69009299 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:69009299G>A uc003xxv.1 + 21 2443 c.2416G>A c.(2416-2418)Gag>Aag p.E806K PREX2_uc003xxu.1_Missense_Mutation_p.E806K|PREX2_uc011lez.1_Missense_Mutation_p.E741K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 806 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.K805K(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TGGGAAGAAGGAGCATGTGAG 0.423000 16 8 0 0 0.000274275 0 0 MAML2 84441 broad.mit.edu 37 11 95826061 95826061 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:95826061G>A uc001pfw.1 - 1 2419 c.1134C>T c.(1132-1134)ggC>ggT p.G378G NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA. 378 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GCTGAGGAGAGCCTGAGGGGC 0.582000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 14 9 0 0 0.000274275 0 0 MBD5 55777 broad.mit.edu 37 2 149243361 149243361 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:149243361C>T uc002twm.4 + 10 3893 c.2896C>T c.(2896-2898)Cta>Tta p.L966L MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.L224L|MBD5_uc002twp.3_Silent_p.L16L NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 966 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACTGACTCATCTACAGTCGCT 0.383000 11 7 0 0 8.12818e-05 0 0 CLIP4 79745 broad.mit.edu 37 2 29366724 29366724 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:29366724C>T uc002rmv.3 + 6 1037 c.798C>T c.(796-798)ctC>ctT p.L266L CLIP4_uc002rmu.3_Silent_p.L266L|CLIP4_uc010ezm.1_Silent_p.L266L|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Silent_p.L248L NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA. 266 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) AGGCCATGCTCCCAAATTATG 0.488000 36 25 0 0 0.00047179 0 0 FBN3 84467 broad.mit.edu 37 19 8175829 8175829 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:8175829C>T uc002mjf.3 - 32 4250 c.4233G>A c.(4231-4233)ggG>ggA p.G1411G NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1411 EGF-like 22; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CACAGAGGTTCCCTTGCGCAC 0.632000 26 30 0 0 0.001512 0 0 SSFA2 6744 broad.mit.edu 37 2 182765502 182765502 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:182765502G>A uc002uoi.3 + 6 905 c.583G>A c.(583-585)Gat>Aat p.D195N SSFA2_uc002uoh.3_Missense_Mutation_p.D195N|SSFA2_uc002uoj.3_Missense_Mutation_p.D195N|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.D42N|SSFA2_uc002uol.3_Missense_Mutation_p.D42N NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 195 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TGATGAACCAGATATTGCTTC 0.343000 40 20 0 0 0.00121646 0 0 PCLO 27445 broad.mit.edu 37 7 82435017 82435017 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:82435017G>A uc003uhx.2 - 20 15209 c.14920C>T c.(14920-14922)Cct>Tct p.P4974S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4897 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTCGGAATAGGAAATAGATTA 0.473000 7 6 0 0 8.12818e-05 0 0 PARP8 79668 broad.mit.edu 37 5 50090706 50090706 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:50090706C>T uc003jon.4 + 12 1065 c.883C>T c.(883-885)Cct>Tct p.P295S PARP8_uc011cpz.2_Missense_Mutation_p.P187S|PARP8_uc003joo.3_Missense_Mutation_p.P295S|PARP8_uc003jop.3_Missense_Mutation_p.P295S NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 295 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TTATCCTCCCCCTGGTTGTGG 0.463000 25 11 0 0 0.000978159 0 0 HAO1 54363 broad.mit.edu 37 20 7866213 7866213 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:7866213G>A uc002wmw.1 - 6 1021 c.997C>T c.(997-999)Ctc>Ttc p.L333F HAO1_uc010gbu.3_Missense_Mutation_p.L333F NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA. 333 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGTATCTCGAGGACATCTTGA 0.373000 7 5 0 0 0.000157383 0 0 CD8B 926 broad.mit.edu 37 2 87085475 87085475 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:87085475C>T uc002srw.3 - 1 167 c.108G>A c.(106-108)atG>atA p.M36I RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.M36I|CD8B_uc002sry.3_Missense_Mutation_p.M36I|CD8B_uc010fgt.3_Missense_Mutation_p.M36I|CD8B_uc002srz.3_Missense_Mutation_p.M36I|CD8B_uc010yto.2_Missense_Mutation_p.M36I NM_172213 NP_757362 P10966 CD8B_HUMAN Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA. 36 Ig-like V-type. T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction T cell receptor complex|early endosome|extracellular region|integral to plasma membrane MHC class I protein binding|coreceptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 ACAGCATCACCATCTTGTTGG 0.512000 42 29 0 0 0.000692331 0 0 ZNF486 90649 broad.mit.edu 37 19 20296886 20296886 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:20296886C>T uc002nou.2 + 2 305 c.248C>T c.(247-249)cCc>cTc p.P83L NM_052852 NP_443084 Q96H40 ZN486_HUMAN Homo sapiens zinc finger protein 486 (ZNF486), mRNA. 83 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 ATTGCCAAACCCCCAGGTAGG 0.428000 30 19 0 0 0.000229342 0 0 ZNF611 81856 broad.mit.edu 37 19 53208329 53208329 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53208329A>T uc002pzz.3 - 6 2296 c.1979T>A c.(1978-1980)gTg>gAg p.V660E ZNF611_uc010eqc.3_Missense_Mutation_p.V590E|ZNF611_uc010ydo.2_Missense_Mutation_p.V590E|ZNF611_uc010ydp.2_Missense_Mutation_p.V660E|ZNF611_uc010ydq.2_Missense_Mutation_p.V660E|ZNF611_uc010ydr.2_Missense_Mutation_p.V591E|ZNF611_uc002qaa.4_Missense_Mutation_p.V590E|ZNF611_uc021uyy.1_Missense_Mutation_p.V591E NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGAATTACGCACGAAAGCCTT 0.403000 77 54 0 0 0.000781405 0 0 TNXB 7148 broad.mit.edu 37 6 32036656 32036657 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:32036656_32036657GG>TT uc003nzl.2 - 15 6046_6047 c.5844_5845CC>AA c.(5842-5847)accctg>acAAtg p.L1949M NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2031 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AAACCATACAGGGTCACCAGGT 0.550000 553 21 0 0 6.4e-05 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115607 15115607 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:15115607G>A uc003bzm.1 - 13 2651 c.2037C>T c.(2035-2037)ttC>ttT p.F679F ZFYVE20_uc010hek.1_Silent_p.F679F NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA. 679 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 CTGGCTGAATGAATGGATTCC 0.557000 79 58 0 0 0.000781405 0 0 EMR1 2015 broad.mit.edu 37 19 6897529 6897529 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6897529G>A uc002mfw.3 + 4 523 c.485G>A c.(484-486)gGa>gAa p.G162E EMR1_uc010dvc.3_Missense_Mutation_p.G162E|EMR1_uc010dvb.3_Missense_Mutation_p.G110E|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 162 EGF-like 3; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGTCAAGTTGGATTCATCTCT 0.438000 28 24 0 0 0.000586117 0 0 ZNF99 7652 broad.mit.edu 37 19 22952122 22952122 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:22952122G>A uc021urt.1 - 1 163 c.8C>T c.(7-9)tCg>tTg p.S3L NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. p.S24W(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAATGTCAACGATCCCTGAAA 0.388000 34 23 0 0 0.00047179 0 0 WDR96 80217 broad.mit.edu 37 10 105890062 105890062 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105890062C>T uc001kxw.3 - 38 4948 c.4832_splice c.e38-1 p.G1611_splice WDR96_uc009xxq.3_Splice_Site_p.G890_splice NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 1611 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCAGTTTAGACCCTATCCCAA 0.333000 45 14 0 0 0.000151284 0 0 CSMD3 114788 broad.mit.edu 37 8 113275990 113275990 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:113275990G>T uc003ynu.3 - 60 9899 c.9740C>A c.(9739-9741)aCa>aAa p.T3247K CSMD3_uc003yns.3_Missense_Mutation_p.T2449K|CSMD3_uc003ynt.3_Missense_Mutation_p.T3207K|CSMD3_uc011lhx.2_Missense_Mutation_p.T3078K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3247 Sushi 25. integral to membrane|plasma membrane p.T3247T(1)|p.G3246R(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCGAAATTTGTTCCTTCCAG 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 13 1.52009e-12 9.05646e-12 0.000308642 1 0 FMO3 2328 broad.mit.edu 37 1 171086447 171086447 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:171086447C>T uc001ghi.3 + 8 1575 c.1464C>T c.(1462-1464)acC>acT p.T488T FMO3_uc001ghh.3_Silent_p.T488T|FMO3_uc010pmb.2_Silent_p.T468T|FMO3_uc010pmc.2_Silent_p.T425T NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 488 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCATACTGACCCAGTGGGACC 0.527000 24 4 0 0 0.000602214 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413716 22413716 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:22413716C>T uc001yuf.3 + 0 255 c.15C>T c.(13-15)ttC>ttT p.F5F abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. TGGTGGACTTCCTCTCTGAGA 0.512000 137 16 0 0 0.00121646 0 0 PACS1 55690 broad.mit.edu 37 11 66010697 66010697 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:66010697C>T uc001oha.2 + 23 2972 c.2838C>T c.(2836-2838)ccC>ccT p.P946P PACS1_uc010rou.2_Silent_p.P482P NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 946 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CCCAGTGGCCCACCCATGTCA 0.607000 9 5 0 0 0.000602214 0 0 WDR17 116966 broad.mit.edu 37 4 177041242 177041242 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:177041242C>T uc003iuj.3 + 4 907 c.604C>T c.(604-606)Cat>Tat p.H202Y WDR17_uc003ium.4_Missense_Mutation_p.H178Y|WDR17_uc003iul.2_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 202 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATCAATTTTTCATCCAGGTAA 0.338000 67 32 0 0 0.000409698 0 0 NGEF 25791 broad.mit.edu 37 2 233748746 233748746 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:233748746C>T uc002vts.2 - 10 1794 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K NGEF_uc010zmm.1_Missense_Mutation_p.E239K|NGEF_uc010fyg.1_Missense_Mutation_p.E424K NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 516 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) AGGTAAATTTCGTGGAAGAGC 0.612000 17 11 0 0 0.000151284 0 0 SERPINC1 462 broad.mit.edu 37 1 173883882 173883882 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:173883882G>A uc001gjt.3 - 1 336 c.217C>T c.(217-219)Ccg>Tcg p.P73S NM_000488 NP_000479 P01008 ANT3_HUMAN Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA. 73 P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GTGGCCTCCGGGATCTTCTGT 0.552000 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 115 55 0 0 0.000781405 0 0 OR4K1 79544 broad.mit.edu 37 14 20404440 20404440 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20404440G>A uc001vwj.2 + 0 674 c.615G>A c.(613-615)ctG>ctA p.L205L NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACAGTGGCCTGATATCATTGA 0.438000 29 6 0 0 0.00116845 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879190 53879190 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:53879190C>T uc001sdn.2 - 4 1162 c.891G>A c.(889-891)aaG>aaA p.K297K MAP3K12_uc001sdm.2_Silent_p.K264K NM_001193511 NP_001180440 Q12852 M3K12_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA. 264 Protein kinase. JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TCTTGGTGCTCTTGTCACTCA 0.517000 18 154 0 0 0.000781405 0 0 UNC5B 219699 broad.mit.edu 37 10 73048424 73048424 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:73048424G>A uc001jro.3 + 6 1452 c.1001G>A c.(1000-1002)gGa>gAa p.G334E UNC5B_uc001jrp.3_Missense_Mutation_p.G334E NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 334 TSP type-1 2. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCCCAGAACGGAGGCCGTGAC 0.657000 18 18 0 0 0.000566183 0 0 KAT6B 23522 broad.mit.edu 37 10 76789951 76789951 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:76789951C>T uc001jwn.1 + 17 5862 c.5369C>T c.(5368-5370)gCc>gTc p.A1790V KAT6B_uc001jwo.1_Missense_Mutation_p.A1498V|KAT6B_uc001jwp.1_Missense_Mutation_p.A1607V NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 1790 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding ACGAGCAACGCCAACATTGGC 0.587000 28 33 0 0 0.00058488 0 0 GPR98 84059 broad.mit.edu 37 5 89943320 89943320 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:89943320C>T uc003kju.3 + 16 3124 c.3028C>T c.(3028-3030)Cgt>Tgt p.R1010C GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1010 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCAGAACCTCGTGTAGTGAG 0.438000 23 14 0 0 0.000308642 0 0 OR10G4 390264 broad.mit.edu 37 11 123886880 123886880 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:123886880T>G uc010sac.2 + 0 599 c.599T>G c.(598-600)gTg>gGg p.V200G NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA. 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTCATCTTTGTGGACATTGGG 0.552000 22 37 0 0 0.00148497 0 0 PCSK6 5046 broad.mit.edu 37 15 101970250 101970250 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:101970250C>T uc002bxa.2 - 5 987 c.673G>A c.(673-675)Gac>Aac p.D225N PCSK6_uc010bpd.3_Missense_Mutation_p.D96N|PCSK6_uc002bwy.3_Missense_Mutation_p.D225N|PCSK6_uc010bpe.3_Missense_Mutation_p.D222N|PCSK6_uc002bxb.2_Missense_Mutation_p.D225N|PCSK6_uc002bxc.1_Missense_Mutation_p.D225N|PCSK6_uc002bxd.1_Missense_Mutation_p.D225N|PCSK6_uc002bxe.3_Missense_Mutation_p.D225N|PCSK6_uc002bxg.1_Missense_Mutation_p.D225N NM_138320 NP_612193 P29122 PCSK6_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA. 226 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCGTTCACGTCGTAGCTGGCG 0.478000 24 12 0 0 0.000151284 0 0 KLF17 128209 broad.mit.edu 37 1 44595563 44595563 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:44595563C>T uc001clp.3 + 1 678 c.620C>T c.(619-621)tCc>tTc p.S207F KLF17_uc009vxf.1_Missense_Mutation_p.S170F NM_173484 NP_775755 Q5JT82 KLF17_HUMAN Homo sapiens Kruppel-like factor 17 (KLF17), mRNA. 207 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GTGCTCCCCTCCATGGCTCAG 0.582000 36 19 0 0 0.00152264 0 0 IFT122 55764 broad.mit.edu 37 3 129202459 129202459 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:129202459C>T uc003eml.3 + 15 2144 c.1938C>T c.(1936-1938)gtC>gtT p.V646V IFT122_uc003emm.3_Silent_p.V595V|IFT122_uc003emn.3_Silent_p.V536V|IFT122_uc003emo.3_Silent_p.V484V|IFT122_uc003emp.3_Silent_p.V445V|IFT122_uc010htc.3_Silent_p.V587V|IFT122_uc011bky.2_Silent_p.V386V|IFT122_uc011bla.2_Silent_p.V386V|IFT122_uc003emr.3_Silent_p.V386V|IFT122_uc011bkx.1_Silent_p.V435V|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Silent_p.V74V NM_052985 NP_443711 Q9HBG6 IF122_HUMAN Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA. 595 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GCTTTGTGGTCGGCTACAATG 0.582000 0 12 0 0 0.000219431 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740553 37740553 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:37740553G>A uc004aag.1 + 14 2072 c.2028G>A c.(2026-2028)gaG>gaA p.E676E FRMPD1_uc004aah.1_Silent_p.E676E|FRMPD1_uc011lqm.2_Silent_p.E498E|FRMPD1_uc011lqn.2_Silent_p.E545E NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 676 cytoskeleton|cytosol|plasma membrane p.S675S(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AGTTTTCCGAGAGTGCTGCTT 0.582000 4 12 0 0 0.000978159 0 0 RBM46 166863 broad.mit.edu 37 4 155719262 155719262 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:155719262G>A uc003ioo.3 + 2 624 c.451G>A c.(451-453)Gaa>Aaa p.E151K RBM46_uc011cim.1_Missense_Mutation_p.E151K|RBM46_uc003iop.1_Missense_Mutation_p.E151K NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN Homo sapiens RNA binding motif protein 46 (RBM46), mRNA. 151 RRM 2. RNA binding|nucleotide binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) TATTCCCAAGGAAAAGAAGAA 0.328000 50 32 0 0 0.00058488 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526640 97526640 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:97526640G>A uc002sxg.4 - 12 2615 c.2384C>T c.(2383-2385)tCc>tTc p.S795F ANKRD39_uc002sxd.4_5'Flank|SEMA4C_uc002sxf.4_Missense_Mutation_p.S242F|SEMA4C_uc002sxe.3_Missense_Mutation_p.S283F|SEMA4C_uc002sxh.4_Missense_Mutation_p.S742F NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA. 742 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TATCTTAAGGGAGCCATCTGA 0.627000 25 29 0 0 0.000339439 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558485 129558485 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:129558485C>T uc009zyl.1 - 8 3563 c.3235G>A c.(3235-3237)Gat>Aat p.D1079N TMEM132D_uc001uia.2_Missense_Mutation_p.D617N NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 1079 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGGTCCAGATCCTGGCAGACC 0.507000 14 94 0 0 0.000781405 0 0 MYH7B 57644 broad.mit.edu 37 20 33578806 33578807 + Splice_Site DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:33578806_33578807GG>AA uc002xbi.2 + 24 2509 c.2192_splice c.e24-1 p.G731_splice MIR499B_uc021wch.1_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 689 Myosin head-like. membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTCACGTCCAGGGGTCATGGAT 0.604000 29 16 0 0 6.4e-05 0 0 DNAH17 8632 broad.mit.edu 37 17 76525569 76525569 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:76525569G>A uc010dhp.2 - 21 3617 c.3492C>T c.(3490-3492)atC>atT p.I1164I 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) GCTTCAAGTGGATCTCCTCTG 0.597000 100 33 0 0 0.00170553 0 0 TNN 63923 broad.mit.edu 37 1 175049373 175049373 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:175049373C>T uc001gkl.1 + 3 972 c.859C>T c.(859-861)Cag>Tag p.Q287* TNN_uc010pmx.1_Nonsense_Mutation_p.Q287* NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 287 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCCTCCAGCCAGGTGGATCA 0.597000 41 8 0 0 0.000157383 0 0 OBSCN 84033 broad.mit.edu 37 1 228504468 228504468 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:228504468G>A uc009xez.1 + 50 13388 c.13344G>A c.(13342-13344)caG>caA p.Q4448Q OBSCN_uc001hsn.3_Silent_p.Q4448Q NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4448 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCGGCGCACAGGCATGCTTCA 0.672000 10 21 0 0 0.000229342 0 0 CCDC37 348807 broad.mit.edu 37 3 126155162 126155162 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:126155162G>A uc010hsg.1 + 15 1813 c.1754G>A c.(1753-1755)cGa>cAa p.R585Q CCDC37_uc003eiu.1_Missense_Mutation_p.R584Q NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 584 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) TGCCGCTCACGACCCCCAGCC 0.547000 18 14 0 0 0.000308642 0 0 EVX2 344191 broad.mit.edu 37 2 176948122 176948122 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:176948122G>A uc010zeu.2 - 0 569 c.383C>T c.(382-384)cCc>cTc p.P128L NM_001080458 NP_001073927 Q03828 EVX2_HUMAN Homo sapiens even-skipped homeobox 2 (EVX2), mRNA. 128 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GAGGCCCCCGGGGGAGCGAAG 0.687000 13 6 0 0 8.12818e-05 0 0 HEATR5B 54497 broad.mit.edu 37 2 37285625 37285625 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:37285625G>A uc002rpp.1 - 13 2124 c.2028C>T c.(2026-2028)atC>atT p.I676I NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. 676 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACAAAGCCAAGATATCATAAA 0.318000 36 24 0 0 0.000720815 0 0 CSDE1 7812 broad.mit.edu 37 1 115268872 115268872 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:115268872C>T uc001efi.3 - 14 2260 c.1738G>A c.(1738-1740)Gaa>Aaa p.E580K CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.E534K|CSDE1_uc001efm.3_Missense_Mutation_p.E549K|CSDE1_uc009wgv.3_Missense_Mutation_p.E534K|CSDE1_uc001efl.3_Missense_Mutation_p.E503K|CSDE1_uc001efn.3_Missense_Mutation_p.E503K NM_001242891 NP_001229820 O75534 CSDE1_HUMAN Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA. 534 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|RNA binding|protein binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGCTGTTTCAATAAATCCA 0.398000 17 13 0 0 0.000151284 0 0 GABRG3 2567 broad.mit.edu 37 15 27772760 27772760 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:27772760G>A uc001zbg.2 + 7 1301 c.1047G>A c.(1045-1047)acG>acA p.T349T NM_033223 NP_150092 Q99928 GBRG3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA. 349 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T349T(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CAACCACCACGAAGAAGACAA 0.493000 10 5 0 0 0.000602214 0 0 GPR112 139378 broad.mit.edu 37 X 135431445 135431445 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:135431445G>A uc004ezu.1 + 5 5871 c.5580G>A c.(5578-5580)atG>atA p.M1860I GPR112_uc010nsb.1_Missense_Mutation_p.M1655I|GPR112_uc010nsc.1_Missense_Mutation_p.M1627I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1860 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATCCCAAATGGTTGAATTTC 0.438000 1 7 0 0 8.12818e-05 0 0 HMGCR 3156 broad.mit.edu 37 5 74638496 74638497 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:74638496_74638497GG>TT uc011cst.2 + 1 378_379 c.126_127GG>TT c.(124-129)gtgggg>gtTTgg p.G43W HMGCR_uc003kdp.3_Missense_Mutation_p.G23W|HMGCR_uc003kdq.3_Missense_Mutation_p.G23W|HMGCR_uc010izn.1_5'Flank NM_000859 NP_000850 P04035 HMDH_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA. 23 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) AAGTCATAGTGGGGACAGTGAC 0.436000 634 14 0 0 6.4e-05 0 0 CLUL1 27098 broad.mit.edu 37 18 624990 624990 + Silent SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:624990T>A uc010wys.2 + 5 771 c.537T>A c.(535-537)atT>atA p.I179I CLUL1_uc002kkp.3_Silent_p.I127I|CLUL1_uc002kkq.3_Silent_p.I127I NM_199167 NP_954636 Q15846 CLUL1_HUMAN Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA. 127 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 GCATGAGAATTTATACAACCT 0.438000 31 15 0 0 0.000422831 0 0 ATP1A2 477 broad.mit.edu 37 1 160105253 160105253 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:160105253G>A uc001fvc.3 + 15 2277 c.2145G>A c.(2143-2145)ggG>ggA p.G715G ATP1A2_uc001fvb.2_Silent_p.G715G|ATP1A2_uc001fvd.3_Silent_p.G451G NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 715 G -> R (in FHM2; de novo mutation in a sporadic case). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGGTGACGGGGTGAACGACT 0.602000 32 40 0 0 0.000589545 0 0 SPTA1 6708 broad.mit.edu 37 1 158609699 158609699 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158609699G>A uc001fst.1 - 33 5035 c.4836C>T c.(4834-4836)ttC>ttT p.F1612F NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1612 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCTTGTGTTGAACCTCTGTT 0.453000 25 36 0 0 0.000814825 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094910 30094910 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:30094910C>T uc003taq.3 + 8 1393 c.991C>T c.(991-993)Ccc>Tcc p.P331S PLEKHA8_uc022aba.1_Missense_Mutation_p.P331S|PLEKHA8_uc003tan.3_Missense_Mutation_p.P331S NM_001197026 NP_001183955 Q96JA3 PKHA8_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA. 331 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CAGTGGCATTCCCACAGAAGC 0.403000 66 41 0 0 0.000781405 0 0 LOC440563 440563 broad.mit.edu 37 1 13183212 13183212 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:13183212C>T uc010obg.2 - 1 904 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 221 ribonucleoprotein complex nucleic acid binding|nucleotide binding TGCTCCTCTTCTGACTTAGCA 0.463000 41 22 0 0 0.00047179 0 0 MYH4 4622 broad.mit.edu 37 17 10356141 10356141 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:10356141C>T uc002gmn.3 - 24 3331 c.3220G>A c.(3220-3222)Gaa>Aaa p.E1074K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1074 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGTCATTTTCTGTATCCATT 0.368000 71 55 0 0 0.000781405 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318274 30318274 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:30318274T>C uc009xle.2 - 2 940 c.803A>G c.(802-804)aAt>aGt p.N268S KIAA1462_uc001iux.3_Missense_Mutation_p.N268S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.N130S NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 268 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGAGTCCAAATTTGGTGCGCA 0.527000 37 29 0 0 0.001512 0 0 OTOGL 283310 broad.mit.edu 37 12 80726841 80726841 + Missense_Mutation SNP A C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:80726841A>C uc001szd.3 + 36 4384 c.4378A>C c.(4378-4380)Aca>Cca p.T1460P NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AACACCAACTACAGGCTTGGA 0.363000 1 4 0 0 0.000602214 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454074 37454074 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:37454074G>A uc021ppc.1 + 17 1986 c.1887G>A c.(1885-1887)tgG>tgA p.W629* ANKRD30A_uc001iza.1_Nonsense_Mutation_p.W629* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 685 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 AAAATTCTTGGGATACTGAGG 0.323000 34 21 0 0 0.000295444 0 0 GPR179 440435 broad.mit.edu 37 17 36485008 36485008 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:36485008C>T uc002hpz.3 - 10 4465 c.4444G>A c.(4444-4446)Gag>Aag p.E1482K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 1482 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCATCCAGCTCCCAGGGACAG 0.512000 72 70 0 0 0.000781405 0 0 DPYS 1807 broad.mit.edu 37 8 105456623 105456623 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:105456623C>T uc003yly.4 - 3 775 c.646G>A c.(646-648)Ggc>Agc p.G216S NM_001385 NP_001376 Q14117 DPYS_HUMAN Homo sapiens dihydropyrimidinase (DPYS), mRNA. 216 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.G216C(2) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCTCGTGGCCCTCAGGGCCT 0.527000 22 21 0 0 0.00047179 0 0 DGKH 160851 broad.mit.edu 37 13 42729831 42729831 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:42729831C>T uc001uyl.2 + 4 585 c.518C>T c.(517-519)tCa>tTa p.S173L DGKH_uc010tfh.2_Missense_Mutation_p.S173L|DGKH_uc001uym.2_Missense_Mutation_p.S173L|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Nonsense_Mutation_p.Q6*|DGKH_uc001uyo.2_Missense_Mutation_p.S37L|DGKH_uc010tfj.2_Missense_Mutation_p.S37L|DGKH_uc001uyp.3_Non-coding_Transcript NM_178009 NP_821077 Q86XP1 DGKH_HUMAN Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA. 173 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAACATTTCTCAGGGATGCAC 0.522000 47 44 0 0 0.000509022 0 0 TRIB1 10221 broad.mit.edu 37 8 126448340 126448340 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:126448340T>A uc003yrx.3 + 2 1328 c.746T>A c.(745-747)gTg>gAg p.V249E TRIB1_uc011lis.2_Missense_Mutation_p.V83E|TRIB1_uc010mdn.3_Missense_Mutation_p.V18E|TRIB1_uc022bay.1_5'Flank NM_025195 NP_079471 Q96RU8 TRIB1_HUMAN Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA. 249 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CCAGCCTACGTGAGCCCTGAG 0.527000 185 107 0 0 0.000781405 0 0 STAU2 27067 broad.mit.edu 37 8 74464404 74464404 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:74464404G>A uc003xzm.3 - 12 1714 c.1373C>T c.(1372-1374)tCg>tTg p.S458L STAU2_uc011lfh.2_Missense_Mutation_p.S354L|STAU2_uc003xzn.3_Missense_Mutation_p.S426L|STAU2_uc011lfg.2_Missense_Mutation_p.S286L|STAU2_uc003xzo.3_Missense_Mutation_p.S458L|STAU2_uc003xzq.3_Missense_Mutation_p.S238L|STAU2_uc003xzp.3_Missense_Mutation_p.S426L|STAU2_uc011lfi.2_Missense_Mutation_p.S420L|STAU2_uc010lzk.3_Missense_Mutation_p.S426L|STAU2_uc010lzl.1_Missense_Mutation_p.S286L NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 458 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TGAACTATTCGATGTGGGAGA 0.443000 69 42 0 0 0.000781405 0 0 GYS1 2997 broad.mit.edu 37 19 49490544 49490544 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49490544G>A uc002plp.3 - 2 640 c.399C>T c.(397-399)ctC>ctT p.L133L GYS1_uc010emm.3_Intron|GYS1_uc010xzz.2_Silent_p.L53L|GYS1_uc010yaa.1_Non-coding_Transcript NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 133 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AGGTATCCCAGAGCTCTCCCT 0.637000 6 12 0 0 0.00136819 0 0 VAV1 7409 broad.mit.edu 37 19 6820766 6820766 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6820766C>T uc002mfu.1 + 1 355 c.258C>T c.(256-258)ttC>ttT p.F86F VAV1_uc010xjh.1_Silent_p.F86F|VAV1_uc010dva.1_Silent_p.F86F|VAV1_uc002mfv.1_Silent_p.F31F NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 86 CH.|Leu-rich. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GTGAGAAGTTCGGCCTCAAGC 0.522000 76 51 0 0 0.000781405 0 0 MUC13 56667 broad.mit.edu 37 3 124630988 124630988 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:124630988C>T uc003ehq.2 - 9 1251 c.1212_splice c.e9-1 p.K404_splice NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 404 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CAAATGCACACCTGAAATACA 0.433000 21 10 0 0 0.000673444 0 0 ACAN 176 broad.mit.edu 37 15 89392722 89392722 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:89392722G>A uc010upo.1 + 9 2160 c.1786G>A c.(1786-1788)Gag>Aag p.E596K ACAN_uc002bmx.3_Missense_Mutation_p.E596K|ACAN_uc010upp.1_Missense_Mutation_p.E596K|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 596 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAAGCACTGGAGTTCTGTGA 0.632000 12 6 0 0 8.12818e-05 0 0 OSCAR 126014 broad.mit.edu 37 19 54600243 54600243 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54600243G>A uc002qdd.3 - 3 471 c.354C>T c.(352-354)gcC>gcT p.A118A OSCAR_uc002qcy.3_Silent_p.A97A|OSCAR_uc002qcz.3_Silent_p.A93A|OSCAR_uc002qda.3_Silent_p.A97A|OSCAR_uc002qdb.3_Silent_p.A82A|OSCAR_uc010erc.3_Missense_Mutation_p.P61S|OSCAR_uc002qdc.3_Silent_p.A107A|OSCAR_uc021vbh.1_5'Flank NM_206818 NP_996554 Q8IYS5 OSCAR_HUMAN Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA. 93 extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) TTCCCCCTTGGGCTGGAGTCA 0.602000 17 17 0 0 0.00074312 0 0 ODZ2 57451 broad.mit.edu 37 5 167674492 167674492 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:167674492G>A uc010jjd.3 + 26 6521 c.6521G>A c.(6520-6522)gGc>gAc p.G2174D ODZ2_uc003lzr.4_Missense_Mutation_p.G1944D|ODZ2_uc003lzt.4_Missense_Mutation_p.G1547D|ODZ2_uc010jje.3_Missense_Mutation_p.G1438D NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GACAGCATGGGCAGGGTGATC 0.557000 23 12 0 0 0.000978159 0 0 AOAH 313 broad.mit.edu 37 7 36552758 36552758 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:36552758C>T uc022abu.1 - 22 2346 c.1945G>A c.(1945-1947)Gga>Aga p.G649R AOAH_uc003tfh.4_3'UTR|AOAH_uc011kba.2_3'UTR NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AAGAAGAGTCCTTTGGGCCTG 0.542000 19 10 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9067149 9067149 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9067149G>A uc002mkp.3 - 2 20501 c.20297C>T c.(20296-20298)tCg>tTg p.S6766L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6768 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S6766L(3)|p.S2399L(1)|p.S6766S(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCGCCATCGAGTGTGTTCC 0.483000 51 48 0 0 0.000781405 0 0 TYRO3 7301 broad.mit.edu 37 15 41870298 41870298 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:41870298G>A uc001zof.2 + 18 2733 c.2497G>A c.(2497-2499)Gat>Aat p.D833N NM_006293 NP_006284 Q06418 TYRO3_HUMAN Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA. 833 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TGGGGCTGGGGATGGCAGTGG 0.647000 20 8 0 0 0.000274275 0 0 OR10H5 284433 broad.mit.edu 37 19 15905710 15905710 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15905710C>T uc010xos.2 + 0 852 c.852C>T c.(850-852)ccC>ccT p.P284P NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA. 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCCTCACACCCTTCCTCAGCC 0.527000 14 11 0 0 0.000308642 0 0 MYO1D 4642 broad.mit.edu 37 17 30821872 30821872 + Nonsense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:30821872T>A uc002hho.1 - 21 2938 c.2926A>T c.(2926-2928)Aag>Tag p.K976* NM_015194 NP_056009 O94832 MYO1D_HUMAN Homo sapiens myosin ID (MYO1D), mRNA. 976 myosin complex ATP binding|actin binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) ACGGTGCACTTCTTCCCGTGC 0.612000 19 6 0 0 8.12818e-05 0 0 OR10S1 219873 broad.mit.edu 37 11 123847640 123847640 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:123847640G>A uc001pzm.1 - 0 759 c.759C>T c.(757-759)tcC>tcT p.S253S NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CAGTGCAGGGGGAGAAGGCCC 0.632000 9 30 0 0 0.000339439 0 0 BBS1 582 broad.mit.edu 37 11 66288844 66288844 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:66288844G>A uc001oii.1 + 8 1016 c.938G>A c.(937-939)aGa>aAa p.R313K BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Intron|BBS1_uc010rpg.1_Missense_Mutation_p.R179K|BBS1_uc001oij.1_Missense_Mutation_p.R276K|BBS1_uc001oik.1_Missense_Mutation_p.R200K|ZDHHC24_uc009yrg.2_3'UTR|BBS1_uc010rph.1_5'Flank NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 276 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 TATATTCTGAGAAGGTAGCCA 0.552000 Bardet-Biedl syndrome 32 20 0 0 0.000295444 0 0 MPP7 143098 broad.mit.edu 37 10 28409259 28409259 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:28409259C>T uc001iua.1 - 11 1155 c.751G>A c.(751-753)Gaa>Aaa p.E251K MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E251K|MPP7_uc009xla.2_Missense_Mutation_p.E251K|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 251 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGCCCAGCTTCCTTACATGGA 0.383000 44 18 0 0 0.00152264 0 0 VWA7 80737 broad.mit.edu 37 6 31734488 31734488 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31734488G>A uc011dog.2 - 13 2174 c.1936C>T c.(1936-1938)Cct>Tct p.P646S VWA7_uc003nxd.2_Missense_Mutation_p.P321S NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 646 extracellular region GGATCCCCAGGATTGGCTCTG 0.617000 102 137 0 0 0.000781405 0 0 SLK 9748 broad.mit.edu 37 10 105727572 105727572 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105727572C>A uc001kxo.1 + 0 103 c.69C>A c.(67-69)caC>caA p.H23Q SLK_uc001kxp.1_Missense_Mutation_p.H23Q NM_014720 NP_055535 Q9H2G2 SLK_HUMAN Homo sapiens STE20-like kinase (SLK), mRNA. 23 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGTACGAACACGTGAAGAGGG 0.483000 39 33 2.80507e-11 1.66752e-10 0.000409698 1 0 ATP10B 23120 broad.mit.edu 37 5 160067517 160067517 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:160067517G>A uc003lym.1 - 9 1798 c.951C>T c.(949-951)atC>atT p.I317I ATP10B_uc003lyp.2_Silent_p.I317I|ATP10B_uc011deg.1_Silent_p.I361I|ATP10B_uc003lyo.2_Silent_p.I289I NM_025153 NP_079429 O94823 AT10B_HUMAN Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA. 317 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCAGAAGAAGATGTCTATAT 0.473000 59 34 0 0 0.00111076 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986374 51986374 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:51986374C>T uc002pwv.1 + 4 960 c.960C>T c.(958-960)tcC>tcT p.S320S NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 320 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCTGCTATTCCTTCCTGGATC 0.522000 75 63 0 0 0.000781405 0 0 FHL5 9457 broad.mit.edu 37 6 97052706 97052706 + Silent SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:97052706T>C uc003pos.2 + 3 656 c.240T>C c.(238-240)ccT>ccC p.P80P FHL5_uc003pot.2_Silent_p.P80P NM_020482 NP_065228 Q5TD97 FHL5_HUMAN Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA. 80 LIM zinc-binding 1. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TGGAAAAGCCTTTTGCTGCCA 0.488000 11 27 0 0 0.00178596 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55263104 55263104 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55263104A>G uc002qgx.3 + 5 756 c.719A>G c.(718-720)aAc>aGc p.N240S KIR2DL1_uc010erw.1_Missense_Mutation_p.N240S|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron NM_015868 NP_056952 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA. 240 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTTCCAGGTAACCCCAGACAC 0.438000 81 30 0 0 0.000814825 0 0 NXN 64359 broad.mit.edu 37 17 704349 704349 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:704349C>T uc002fsa.3 - 7 1228 c.1148G>A c.(1147-1149)cGa>cAa p.R383Q NXN_uc010vqd.2_Missense_Mutation_p.R74Q|NXN_uc010vqe.2_Missense_Mutation_p.R275Q NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA. 383 Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGTGTAATCTCGCAGGGAGTC 0.587000 28 14 0 0 0.000566183 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702055 187702055 + Missense_Mutation SNP G A A rs149540467 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:187702055G>A uc002upu.1 - 4 761 c.721C>T c.(721-723)Cca>Tca p.P241S NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 241 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCCTCAATTGGAAACTGTTTG 0.358000 11 8 0 0 0.000442599 0 0 IL17RC 84818 broad.mit.edu 37 3 9969872 9969872 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:9969872C>T uc003bua.3 + 9 1276 c.1058C>T c.(1057-1059)tCc>tTc p.S353F CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.S257F|IL17RC_uc003btz.3_Missense_Mutation_p.S282F|IL17RC_uc011atp.2_Missense_Mutation_p.S138F|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.S282F|IL17RC_uc010hcu.3_Missense_Mutation_p.S282F|IL17RC_uc003bub.3_Missense_Mutation_p.S267F|IL17RC_uc010hcv.3_Missense_Mutation_p.S267F|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.S267F|IL17RC_uc003bue.3_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA. 353 integral to membrane|plasma membrane receptor activity p.S353S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAACCTGACTCCGTTAGGACG 0.647000 57 34 0 0 0.000692331 0 0 DSG4 147409 broad.mit.edu 37 18 28968435 28968435 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:28968435G>A uc002kwr.2 + 3 457 c.322G>A c.(322-324)Gaa>Aaa p.E108K DSG4_uc002kwq.2_Missense_Mutation_p.E108K NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 108 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCGCACTGGGGAAATTAACAT 0.398000 10 4 0 0 0.00024832 0 0 IFNA5 3442 broad.mit.edu 37 9 21304743 21304743 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:21304743G>A uc011lnh.2 - 0 570 c.513C>T c.(511-513)atC>atT p.I171I NM_002169 NP_002160 P01569 IFNA5_HUMAN Homo sapiens interferon, alpha 5 (IFNA5), mRNA. 171 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGGATCTCATGATTTCTGCTC 0.398000 23 64 0 0 0.000781405 0 0 ARID1A 8289 broad.mit.edu 37 1 27106861 27106861 + Silent SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:27106861C>A uc001bmv.1 + 19 6845 c.6472C>A c.(6472-6474)Cga>Aga p.R2158R ARID1A_uc001bmu.1_Silent_p.R1941R|ARID1A_uc001bmx.1_Silent_p.R1004R|ARID1A_uc009vsm.1_Silent_p.R486R|ARID1A_uc009vsn.1_Silent_p.R400R NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 2158 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.R2158*(6)|p.D2157N(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCAGTGACCGAAAGAACCC 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 40 30 3.99451e-17 2.39047e-16 0.00178596 1 0 PRKCQ 5588 broad.mit.edu 37 10 6553059 6553059 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:6553059G>A uc001iji.1 - 1 399 c.315C>T c.(313-315)atC>atT p.I105I PRKCQ_uc001ijj.2_Silent_p.I72I|PRKCQ_uc009xim.2_Silent_p.I72I|PRKCQ_uc009xin.2_Silent_p.I36I|PRKCQ_uc010qax.2_5'UTR NM_006257 NP_006248 Q04759 KPCT_HUMAN Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA. 72 C2. T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTTTCACAATGATCTGCATGA 0.483000 40 33 0 0 0.000491102 0 0 BRSK2 9024 broad.mit.edu 37 11 1432751 1432751 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:1432751G>A uc001ltm.3 + 0 370 c.117G>A c.(115-117)ggG>ggA p.G39G BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001lti.3_Intron|BRSK2_uc001ltl.3_Intron|BRSK2_uc001ltj.3_Intron|BRSK2_uc001ltk.3_Intron NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA. 8 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCAGGGGAGGGGCCGCACATC 0.701000 2 17 0 0 0.000566183 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496691 20496691 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:20496691C>T uc001ytf.1 + 5 c.744C>T Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. TTGTGAACTCCATGGTTTGAA 0.423000 82 7 0 0 0.000274275 0 0 LANCL1 10314 broad.mit.edu 37 2 211302519 211302519 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:211302519G>A uc010zjh.2 - 6 843 c.768C>T c.(766-768)ttC>ttT p.F256F LANCL1_uc002ved.3_Silent_p.F256F|LANCL1_uc010fuq.3_Silent_p.F256F NM_001136574 NP_006046 O43813 LANC1_HUMAN Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA. 256 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TGCCAGAAGGGAATTTCAGCT 0.478000 18 19 0 0 0.000958276 0 0 RNF10 9921 broad.mit.edu 37 12 121000873 121000873 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:121000873G>A uc001typ.4 + 8 1737 c.1254_splice c.e8+1 p.K418_splice RNF10_uc010szk.2_Splice_Site|RNF10_uc001tyq.4_Splice_Site_p.K324_splice NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 418 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACCCAGGAAGGTTAGTGTGT 0.512000 9 49 0 0 0.000781405 0 0 KIF26B 55083 broad.mit.edu 37 1 245865885 245865885 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:245865885G>A uc001ibf.1 + 14 6744 c.6304G>A c.(6304-6306)Gac>Aac p.D2102N NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 2102 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CACCTGCTTCGACATCACCTC 0.607000 32 57 0 0 0.000781405 0 0 ZNF667 63934 broad.mit.edu 37 19 56952992 56952992 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:56952992G>A uc002qne.3 - 6 2163 c.1372C>T c.(1372-1374)Ctt>Ttt p.L458F ZNF667_uc010etl.3_Missense_Mutation_p.L240F|ZNF667_uc002qnd.3_Missense_Mutation_p.L458F|ZNF667_uc010etm.3_Missense_Mutation_p.L401F NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA. 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TGTTCAATAAGAAATGATTGG 0.373000 31 22 0 0 0.000586117 0 0 BCMO1 53630 broad.mit.edu 37 16 81323952 81323952 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:81323952G>A uc002fgn.1 + 11 1633 c.1415_splice c.e11-1 p.G472_splice BCMO1_uc010vnp.1_Splice_Site_p.G403_splice NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 472 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TTTCCCTAAAGGAGTAATCTT 0.438000 13 28 0 0 0.000409698 0 0 PAK7 57144 broad.mit.edu 37 20 9561479 9561479 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:9561479C>T uc002wnl.2 - 4 848 c.303G>A c.(301-303)agG>agA p.R101R PAK7_uc002wnk.2_Silent_p.R101R|PAK7_uc002wnj.2_Silent_p.R101R|PAK7_uc010gby.1_Silent_p.R101R NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 101 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGCTTTCTTTCCTTAGGGAGT 0.532000 51 33 0 0 0.00178596 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415004 121415004 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:121415004C>T uc010hrc.3 - 12 4492 c.4366G>A c.(4366-4368)Gat>Aat p.D1456N GOLGB1_uc003eei.4_Missense_Mutation_p.D1451N|GOLGB1_uc003eej.4_Missense_Mutation_p.D1417N|GOLGB1_uc021xcy.1_Missense_Mutation_p.D1376N|GOLGB1_uc011bjm.1_Missense_Mutation_p.D1337N|GOLGB1_uc010hrd.1_Missense_Mutation_p.D1415N NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 1451 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ATCCTCTCATCATGCTCTTTG 0.378000 59 41 0 0 0.000589545 0 0 OR5M1 390168 broad.mit.edu 37 11 56380880 56380880 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56380880C>T uc001nja.1 - 0 99 c.99G>A c.(97-99)gcG>gcA p.A33A OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TTAGGTAGATCGCAAGGAATA 0.493000 17 14 0 0 0.000151284 0 0 FLG 2312 broad.mit.edu 37 1 152285957 152285957 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:152285957G>A uc001ezu.1 - 2 1441 c.1405C>T c.(1405-1407)Ctc>Ttc p.L469F AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 469 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTGGTAGAGGGAAGACCCT 0.612000 Ichthyosis 120 53 0 0 0.000781405 0 0 MC3R 4159 broad.mit.edu 37 20 54824304 54824304 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:54824304C>T uc002xxb.2 + 0 517 c.405C>T c.(403-405)ctC>ctT p.L135L NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 172 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTGCAACCTCCTGGCCATCG 0.562000 43 33 0 0 0.00058488 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906436 164906436 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:164906436G>A uc003fej.4 - 1 2627 c.2183C>T c.(2182-2184)tCc>tTc p.S728F SLITRK3_uc003fek.3_Missense_Mutation_p.S728F|SLITRK3_uc021xgy.1_Missense_Mutation_p.S728F NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 728 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCTGGAGAGGAAAGAGTTGG 0.572000 HNSCC(40;0.11) 25 13 0 0 0.000308642 0 0 LRP1B 53353 broad.mit.edu 37 2 141777598 141777598 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:141777598C>T uc002tvj.1 - 11 2835 c.1863G>A c.(1861-1863)agG>agA p.R621R LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 621 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAATGGTTTTCCTATGGCCAT 0.418000 TSP Lung(27;0.18) 13 10 0 0 0.000673444 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247269 142247269 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142247269C>T uc003vyd.4 - 1 212 c.187G>A c.(187-189)Gag>Aag p.E63K TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; ATTAGAAACTCTGGGCCCTGC 0.527000 22 31 0 0 0.000339439 0 0 MYOCD 93649 broad.mit.edu 37 17 12655875 12655875 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:12655875C>T uc002gno.2 + 9 1569 c.1270C>T c.(1270-1272)Cct>Tct p.P424S MYOCD_uc002gnn.2_Missense_Mutation_p.P424S|MYOCD_uc002gnp.1_Missense_Mutation_p.P328S|MYOCD_uc002gnq.2_Missense_Mutation_p.P143S NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 424 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGTCACTTTTCCTGTCACACC 0.572000 42 39 0 0 0.000509022 0 0 SPINT2 10653 broad.mit.edu 37 19 38774365 38774365 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38774365G>A uc002ohr.2 + 1 640 c.205G>A c.(205-207)Ggg>Agg p.G69R SPINT2_uc002ohs.2_Intron NM_021102 NP_066925 O43291 SPIT2_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA. 69 BPTI/Kunitz inhibitor 1. 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) GTTTGTGTATGGGGGCTGTGA 0.537000 56 44 0 0 0.000374591 0 0 SMYD1 150572 broad.mit.edu 37 2 88402614 88402614 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:88402614C>T uc002ssr.3 + 6 1011 c.926C>T c.(925-927)tCc>tTc p.S309F SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.S5F NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA. 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 ATACAATTCTCCAAGGATACA 0.458000 41 30 0 0 0.00058488 0 0 GPR112 139378 broad.mit.edu 37 X 135469904 135469904 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:135469904C>T uc004ezu.1 + 15 8073 c.7782C>T c.(7780-7782)ttC>ttT p.F2594F GPR112_uc010nsb.1_Silent_p.F2389F NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2594 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGCAGATTTTCCTAGGCAATG 0.433000 8 13 0 0 0.000422831 0 0 SORBS2 8470 broad.mit.edu 37 4 186545620 186545620 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:186545620G>A uc003iyg.3 - 12 1325 c.1293C>T c.(1291-1293)tcC>tcT p.S431S SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.S417S|SORBS2_uc003iyl.3_Silent_p.S317S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.S221S|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 317 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.R431C(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AACTGCAAAGGGATGGACATA 0.478000 39 29 0 0 0.000409698 0 0 CBLB 868 broad.mit.edu 37 3 105438891 105438891 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:105438891C>T uc003dwc.3 - 10 1729 c.1407_splice c.e10+1 p.K469_splice CBLB_uc011bhi.2_Splice_Site_p.K491_splice|CBLB_uc003dwd.2_Splice_Site_p.K469_splice|CBLB_uc003dwe.2_Splice_Site_p.K469_splice|CBLB_uc011bhj.1_Splice_Site NM_170662 NP_733762 Q13191 CBLB_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA. 469 NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTAGTTTTACCTTTCGGACGT 0.438000 Mis S AML 8 10 0 0 0.000978159 0 0 GLRA1 2741 broad.mit.edu 37 5 151271933 151271933 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:151271933G>A uc003lut.3 - 1 410 c.123C>T c.(121-123)ttC>ttT p.F41F GLRA1_uc003lur.3_Silent_p.F41F|GLRA1_uc003lus.3_Intron NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 41 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTTATCCAGGAAATCCGAGG 0.498000 27 20 0 0 0.00152264 0 0 FBF1 85302 broad.mit.edu 37 17 73924191 73924191 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73924191C>T uc002jqc.3 - 6 595 c.321G>A c.(319-321)ggG>ggA p.G107G FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.G97G|FBF1_uc002jqd.1_Silent_p.G107G NM_001080542 NP_001074011 A6NLR5 A6NLR5_HUMAN Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA. 107 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GCTCTCCTTTCCCAGGGTCCT 0.542000 29 45 0 0 0.000781405 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605601 159605602 + Missense_Mutation DNP AG TA TA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:159605601_159605602AG>TA uc003fcq.2 + 7 1510_1511 c.1329_1330AG>TA c.(1327-1332)gaagcc>gaTAcc p.443_444EA>DT IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.416_417EA>DT|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.367_368EA>DT|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.354_355EA>DT|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.135_136EA>DT|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.327_328EA>DT|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.124_125EA>DT NM_001197113 NP_001184042 Q9P0W5 SCHI1_HUMAN Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA. 367 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TGCAAGCTGAAGCCAAAATGGC 0.446000 72 49 0 0 6.4e-05 0 0 CELSR3 1951 broad.mit.edu 37 3 48677117 48677117 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:48677117G>A uc003cuf.1 - 35 10195 c.10195C>T c.(10195-10197)Cca>Tca p.P3399S CELSR3_uc010hkf.3_Missense_Mutation_p.P591S|CELSR3_uc010hkg.3_Missense_Mutation_p.P1284S|CELSR3_uc003cul.3_Missense_Mutation_p.P3301S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 3301 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGAGTCTGGCGACAGCTCC 0.607000 75 41 0 0 0.000374591 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060169 35060169 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35060169G>A uc002xff.3 + 2 484 c.49G>A c.(49-51)Gac>Aac p.D17N DLGAP4_uc010zvp.2_Missense_Mutation_p.D17N NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA. 17 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGACAGCCTAGACCCACCCCA 0.721000 13 9 0 0 0.000673444 0 0 HCN1 348980 broad.mit.edu 37 5 45262086 45262086 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:45262086T>A uc003jok.3 - 7 2635 c.2610A>T c.(2608-2610)gaA>gaT p.E870D NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 870 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGAGGAAGATTCTCTTGGAA 0.527000 71 58 0 0 0.000781405 0 0 GAS7 8522 broad.mit.edu 37 17 9850238 9850239 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:9850238_9850239GG>AA uc002gmg.1 - 5 748_749 c.587_588CC>TT c.(586-588)acc>aTT p.T196I GAS7_uc010vvc.1_Missense_Mutation_p.T10I|GAS7_uc002gmh.1_Missense_Mutation_p.T56I|GAS7_uc010vvd.1_Missense_Mutation_p.T148I|GAS7_uc002gmi.2_Missense_Mutation_p.T132I|GAS7_uc002gmj.1_Missense_Mutation_p.T136I|GAS7_uc010coh.1_Missense_Mutation_p.T136I NM_201433 NP_001124303 O60861 GAS7_HUMAN Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA. 196 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity p.T196T(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 AGCTCCACTCGGTTGGTTTCAG 0.584000 T MLL AML* 11 13 0 0 6.4e-05 0 0 C2orf16 84226 broad.mit.edu 37 2 27802577 27802578 + Missense_Mutation DNP GG TA TA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27802577_27802578GG>TA uc002rkz.4 + 0 3189_3190 c.3138_3139GG>TA c.(3136-3141)atggaa>atTAaa p.1046_1047ME>IK NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1046 p.P1045Q(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TTGTTCCAATGGAAGAAAGTGA 0.470000 55 40 0 0 6.4e-05 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493514 65493514 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:65493514C>T uc003xvi.3 + 0 720 c.167C>T c.(166-168)tCc>tTc p.S56F LOC401463_uc003xvh.3_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA. 56 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 CGCCCGGCGTCCTCCTCCTCG 0.761000 13 6 0 0 0.000157383 0 0 PCLO 27445 broad.mit.edu 37 7 82545171 82545171 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:82545171C>T uc003uhx.2 - 6 12420 c.12131G>A c.(12130-12132)cGa>cAa p.R4044Q PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.3_Missense_Mutation_p.R1009Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3975 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R4044Q(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GACATAATTTCGTGGAGTATG 0.408000 5 7 0 0 8.12818e-05 0 0 DSC2 1824 broad.mit.edu 37 18 28671089 28671089 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:28671089T>C uc002kwl.4 - 3 830 c.376A>G c.(376-378)Aaa>Gaa p.K126E DSC2_uc002kwk.4_Missense_Mutation_p.K126E NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 126 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ACTTTTTCTTTAGTATGTCTT 0.363000 14 10 0 0 0.00136819 0 0 NRXN1 9378 broad.mit.edu 37 2 50850507 50850507 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:50850507C>T uc021vhh.1 - 4 2000 c.1079G>A c.(1078-1080)gGa>gAa p.G360E NRXN1_uc002rxb.4_Missense_Mutation_p.G40E|NRXN1_uc021vhg.1_Missense_Mutation_p.G393E|NRXN1_uc021vhi.1_Missense_Mutation_p.G389E|NRXN1_uc021vhj.1_Missense_Mutation_p.G356E|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 360 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATTAAACTTTCCATTCACAGG 0.458000 11 6 0 0 0.00116845 0 0 TNPO3 23534 broad.mit.edu 37 7 128641228 128641228 + Missense_Mutation SNP G A A rs11538883 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:128641228G>A uc010lly.2 - 5 1160 c.757C>T c.(757-759)Ctc>Ttc p.L253F TNPO3_uc003vol.2_Missense_Mutation_p.L253F|TNPO3_uc010llz.2_Missense_Mutation_p.L253F|TNPO3_uc003vom.2_Missense_Mutation_p.L187F NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 253 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 ATGGCATAGAGAGCTGAGCAT 0.488000 127 75 0 0 0.000781405 0 0 SAFB2 9667 broad.mit.edu 37 19 5591793 5591793 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:5591793G>A uc002mcd.3 - 16 2572 c.2360C>T c.(2359-2361)tCg>tTg p.S787L NM_014649 NP_055464 Q14151 SAFB2_HUMAN Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA. 787 Arg-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|nucleotide binding|protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CATTGGCCTCGAACCCTCCCG 0.567000 10 7 0 0 0.000157383 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171970 102171970 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:102171970G>A uc003dvt.1 + 2 462 c.362G>A c.(361-363)gGa>gAa p.G121E ZPLD1_uc003dvs.1_Missense_Mutation_p.G105E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G105E NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 105 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GAGGGCTGTGGAAACAACCTG 0.443000 11 10 0 0 0.000151284 0 0 MYH6 4624 broad.mit.edu 37 14 23862632 23862632 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:23862632G>A uc001wjv.3 - 22 3095 c.3024C>T c.(3022-3024)gcC>gcT p.A1008A NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 1008 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTCATCCAGGGCCTGCTGAT 0.517000 82 66 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179591859 179591859 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179591859G>A uc021vsy.1 - 65 16726 c.16501C>T c.(16501-16503)Ccc>Tcc p.P5501S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2162S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6428 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGCCAGCGGGATTCTGAGCC 0.428000 11 9 0 0 0.000673444 0 0 PHYH 5264 broad.mit.edu 37 10 13323103 13323103 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:13323103G>A uc001imf.3 - 7 924 c.836C>T c.(835-837)tCc>tTc p.S279F PHYH_uc001ime.3_Missense_Mutation_p.S179F NM_006214 NP_001032626 O14832 PAHX_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA. 279 fatty acid alpha-oxidation|nervous system development peroxisomal matrix L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) GAAATGGCAGGAAATTGCCTG 0.403000 37 16 0 0 0.000958276 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204410671 204410671 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:204410671G>A uc001haw.3 - 21 3656 c.3177C>T c.(3175-3177)tcC>tcT p.S1059S PIK3C2B_uc010pqv.2_Silent_p.S1031S NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 1059 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGACAGCATTGGAGTTGAAGT 0.502000 27 59 0 0 0.000781405 0 0 RP1 6101 broad.mit.edu 37 8 55541533 55541533 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:55541533G>A uc003xsd.1 + 3 5239 c.5091G>A c.(5089-5091)caG>caA p.Q1697Q RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1697 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGGAATTCCAGGAGGAAAGAC 0.403000 49 27 0 0 0.00127121 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644851 20644851 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:20644851C>T uc001ytg.3 - 20 3116 c.2407G>A c.(2407-2409)Gcg>Acg p.A803T HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.A803T|HERC2P3_uc010tyy.2_Missense_Mutation_p.A803T Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. p.A803V(4)|p.R802K(1) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ATGTCCCTCGCCCTTTCGGTC 0.458000 69 18 0 0 0.000375601 0 0 ADARB2 105 broad.mit.edu 37 10 1262904 1262904 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:1262904C>T uc009xhq.3 - 6 1995 c.1669G>A c.(1669-1671)Gac>Aac p.D557N NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 557 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCGATCTTGTCCGTGCAGGAC 0.687000 9 6 0 0 8.12818e-05 0 0 OR2F2 135948 broad.mit.edu 37 7 143633090 143633090 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143633090G>A uc011ktv.2 + 0 765 c.765G>A c.(763-765)acG>acA p.T255T NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) ACGGCACAACGATTTTCACTT 0.512000 43 26 0 0 0.00106085 0 0 TTN 7273 broad.mit.edu 37 2 179592048 179592048 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179592048C>T uc021vsy.1 - 65 16537 c.16312G>A c.(16312-16314)Ggt>Agt p.G5438S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2099S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6365 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAGAGTCACCTGCTTTCACA 0.403000 1 5 0 0 0.00116845 0 0 KIAA0090 23065 broad.mit.edu 37 1 19567577 19567578 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:19567577_19567578CC>TT uc001bbo.3 - 5 611_612 c.568_569GG>AA c.(568-570)gga>AAa p.G190K KIAA0090_uc001bbp.3_Missense_Mutation_p.G190K|KIAA0090_uc001bbq.3_Missense_Mutation_p.G190K|KIAA0090_uc001bbr.3_Missense_Mutation_p.G168K NM_015047 NP_055862 Q8N766 K0090_HUMAN Homo sapiens KIAA0090 (KIAA0090), mRNA. 190 integral to membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 25 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) GGGAACAACTCCGAGGGCCCAC 0.510000 OREG0013169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 31 0 0 6.4e-05 0 0 FIGLA 344018 broad.mit.edu 37 2 71012684 71012685 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:71012684_71012685GG>TT uc002she.1 - 2 476_477 c.471_472CC>AA c.(469-474)acccaa>acAAaa p.Q158K NM_001004311 NP_001004311 Q6QHK4 FIGLA_HUMAN Homo sapiens folliculogenesis specific basic helix-loop-helix (FIGLA), mRNA. 158 multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent transcription factor complex DNA binding|transcription factor binding endometrium(2)|lung(3) 5 CTGATATGTTGGGTGATGTTTC 0.485000 374 12 0 0 6.4e-05 0 0 GP5 2814 broad.mit.edu 37 3 194118498 194118498 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:194118498G>A uc003ftv.1 - 1 545 c.514C>T c.(514-516)Ctg>Ttg p.L172L GP5_uc021xiz.1_Silent_p.L172L NM_004488 NP_004479 P40197 GPV_HUMAN Homo sapiens glycoprotein V (platelet) (GP5), mRNA. 172 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) AACAACTTCAGGTTCTCCAGA 0.512000 43 27 0 0 0.000720815 0 0 MYOM3 127294 broad.mit.edu 37 1 24383924 24383924 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:24383924G>A uc001bin.4 - 36 4407 c.4244C>T c.(4243-4245)tCc>tTc p.S1415F MYOM3_uc001bil.4_Missense_Mutation_p.S308F|MYOM3_uc001bim.4_Missense_Mutation_p.S1072F NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1415 Ig-like C2-type 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCCCGTCTCGGAGCCATACTT 0.572000 28 18 0 0 0.00152264 0 0 PLD5 200150 broad.mit.edu 37 1 242287898 242287898 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:242287898G>A uc001hzn.2 - 6 1032 c.805C>T c.(805-807)Cta>Tta p.L269L PLD5_uc021pll.1_Silent_p.L177L|PLD5_uc001hzl.4_Silent_p.L207L|PLD5_uc001hzm.4_Silent_p.L61L|PLD5_uc001hzo.2_Silent_p.L177L NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 269 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GAACTATATAGAGCAAATATC 0.368000 49 18 0 0 0.00121646 0 0 ATG2B 55102 broad.mit.edu 37 14 96797765 96797765 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:96797765A>T uc001yfi.3 - 10 2043 c.1678T>A c.(1678-1680)Ttt>Att p.F560I NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA. 560 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAAGACTTAAAATCTTCTGTT 0.378000 45 19 0 0 0.00074312 0 0 TMEM101 84336 broad.mit.edu 37 17 42089457 42089457 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:42089457G>A uc002ieu.3 - 3 638 c.613C>T c.(613-615)Cag>Tag p.Q205* TMEM101_uc010wis.2_Nonsense_Mutation_p.Q147* NM_032376 NP_115752 Q96IK0 TM101_HUMAN Homo sapiens transmembrane protein 101 (TMEM101), mRNA. 205 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) GCCAGGATCTGGGCAGCGAGG 0.567000 30 22 0 0 0.000375601 0 0 SLC22A10 387775 broad.mit.edu 37 11 63071643 63071643 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:63071643C>T uc009yor.3 + 7 1557 c.1349C>T c.(1348-1350)tCc>tTc p.S450F SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.P244S NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 450 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCTACTTTTTCCAGTGTTGCT 0.463000 59 45 0 0 0.000781405 0 0 abParts 0 broad.mit.edu 37 2 90077822 90077822 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:90077822C>T uc010yts.2 + 22 c.2625C>T Parts of antibodies, mostly variable regions. ACTCTGGCTCCCAGGTGAGGG 0.517000 55 25 0 0 0.00178596 0 0 MYH7 4625 broad.mit.edu 37 14 23886133 23886133 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:23886133G>A uc001wjx.3 - 32 4694 c.4588C>T c.(4588-4590)Cga>Tga p.R1530* NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1530 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGCTGCTTTCGGACCTTCTCC 0.602000 38 34 0 0 0.00058488 0 0 MGAM 8972 broad.mit.edu 37 7 141740634 141740634 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:141740634C>T uc003vwy.3 + 20 2540 c.2486C>T c.(2485-2487)aCc>aTc p.T829I NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 829 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCAAATACAACCACTCTGGCC 0.463000 9 5 0 0 0.000157383 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858025 101858025 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:101858025T>C uc022cbb.1 + 0 956 c.956T>C c.(955-957)cTt>cCt p.L319P ARMCX5_uc004ejg.3_Missense_Mutation_p.L319P|ARMCX5_uc022caw.1_Missense_Mutation_p.L319P|ARMCX5_uc022cax.1_Missense_Mutation_p.L319P|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.L319P|ARMCX5_uc022cba.1_Missense_Mutation_p.L319P|ARMCX5_uc004ejh.3_Missense_Mutation_p.L319P NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA. 319 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GTTGCCCTCCTTAAGTTAACT 0.398000 2 19 0 0 0.000958276 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644400 18644400 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:18644400G>A uc001rdt.3 + 18 2694 c.2578G>A c.(2578-2580)Gaa>Aaa p.E860K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E901K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E679K NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 860 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ACTGAAGAAAGAAATTGGCAG 0.328000 9 67 0 0 0.000781405 0 0 SRGAP3 9901 broad.mit.edu 37 3 9094804 9094804 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:9094804G>A uc003brf.1 - 8 1906 c.1230C>T c.(1228-1230)tcC>tcT p.S410S SRGAP3_uc003brg.1_Silent_p.S410S|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Silent_p.S270S NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 410 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCGACTTGACGGACTCTGTCG 0.488000 T RAF1 pilocytic astrocytoma 30 30 0 0 0.00058488 0 0 SPDYC 387778 broad.mit.edu 37 11 64938873 64938874 + Nonsense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64938873_64938874CC>TT uc010rnz.2 + 1 102_103 c.102_103CC>TT c.(100-105)acccag>acTTag p.Q35* NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA. 35 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 TAGTTACCACCCAGGTAGAGCT 0.604000 50 30 0 0 6.4e-05 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900428 151900428 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:151900428G>A uc022chj.1 - 0 373 c.373C>T c.(373-375)Cga>Tga p.R125* MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Nonsense_Mutation_p.R125*|MAGEA12_uc022chi.1_Nonsense_Mutation_p.R125*|MAGEA12_uc004fgc.3_Nonsense_Mutation_p.R125*|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA. 125 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTGGCTCGATACTTGAGG 0.498000 12 52 0 0 0.000781405 0 0 LRFN5 145581 broad.mit.edu 37 14 42356439 42356439 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:42356439C>T uc001wvm.3 + 2 1809 c.611C>T c.(610-612)tCa>tTa p.S204L LRFN5_uc010ana.3_Missense_Mutation_p.S204L NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. 204 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATGTGACATCAAATAAATTG 0.418000 HNSCC(30;0.082) 20 15 0 0 0.000219431 0 0 ASNA1 439 broad.mit.edu 37 19 12848457 12848457 + Silent SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:12848457T>G uc002muv.3 + 0 152 c.138T>G c.(136-138)ggT>ggG p.G46G C19orf43_uc002muu.3_5'Flank NM_004317 NP_004308 O43681 ASNA_HUMAN Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA. 46 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction ATP binding|arsenite-transporting ATPase activity|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) GGGGCAAGGGTGGTGTGGGCA 0.612000 19 11 0 0 0.000978159 0 0 CYP17A1 1586 broad.mit.edu 37 10 104590597 104590597 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:104590597G>A uc001kwg.3 - 7 1561 c.1389C>T c.(1387-1389)ttC>ttT p.F463F WBP1L_uc009xxg.1_Non-coding_Transcript NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 463 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity p.R462W(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) CCTCCAGGTCGAACCTCTGCA 0.577000 5 4 0 0 0.00024832 0 0 ZHX2 22882 broad.mit.edu 37 8 123965271 123965271 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:123965271C>T uc022bag.1 + 0 1521 c.1521C>T c.(1519-1521)gcC>gcT p.A507A ZHX2_uc003ypk.1_Silent_p.A507A NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 507 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AATCCCTTGCCAAAGACCAGT 0.567000 15 10 0 0 0.000442599 0 0 ATP1A3 478 broad.mit.edu 37 19 42474413 42474413 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:42474413C>T uc002osh.3 - 17 2620 c.2466G>A c.(2464-2466)atG>atA p.M822I ATP1A3_uc010xwf.2_Missense_Mutation_p.M833I|ATP1A3_uc010xwg.2_Missense_Mutation_p.M792I|ATP1A3_uc002osg.3_Missense_Mutation_p.M822I|ATP1A3_uc010xwh.2_Missense_Mutation_p.M835I P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 822 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCTGTCTCTTCATGATGTCGC 0.627000 18 20 0 0 0.000229342 0 0 NPC1L1 29881 broad.mit.edu 37 7 44576027 44576027 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:44576027C>T uc003tlb.3 - 4 1738 c.1682_splice c.e4-1 p.G561_splice NPC1L1_uc011kbw.2_Splice_Site_p.G561_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G561_splice|NPC1L1_uc003tld.3_Splice_Site_p.G561_splice NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 561 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ATAGTCCTTTCCTGGGATAAG 0.602000 37 36 0 0 0.00111076 0 0 RP1L1 94137 broad.mit.edu 37 8 10465954 10465954 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:10465954G>A uc003wtc.3 - 3 5883 c.5654C>T c.(5653-5655)cCa>cTa p.P1885L NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1885 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCTGACTCTGGCTGGGCCTC 0.627000 72 66 0 0 0.000781405 0 0 SREBF1 6720 broad.mit.edu 37 17 17721087 17721087 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:17721087G>A uc002gru.2 - 6 1521 c.1327C>T c.(1327-1329)Ctt>Ttt p.L443F SREBF1_uc002grp.2_Silent_p.P12P|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.L189F|SREBF1_uc002grs.2_Missense_Mutation_p.L419F|SREBF1_uc002grt.2_Missense_Mutation_p.L473F|SREBF1_uc010cpp.1_Missense_Mutation_p.L419F|SREBF1_uc010cpq.1_Missense_Mutation_p.L443F NM_004176 NP_004167 P36956 SRBP1_HUMAN Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA. 443 Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 CTGCTGCCAAGGGACAAGGGG 0.652000 35 27 0 0 0.001512 0 0 OR14J1 442191 broad.mit.edu 37 6 29275391 29275391 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29275391C>T uc011dln.2 + 0 925 c.925C>T c.(925-927)Cct>Tct p.P309S NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 GGAAGAGCTTCCTCAGAGAAA 0.388000 26 33 0 0 0.000339439 0 0 CAMKV 79012 broad.mit.edu 37 3 49898401 49898401 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:49898401C>T uc003cxt.1 - 6 806 c.613G>A c.(613-615)Gcc>Acc p.A205T CAMKV_uc011bcy.1_Missense_Mutation_p.A130T|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Missense_Mutation_p.A37T|CAMKV_uc003cxx.1_Missense_Mutation_p.A37T|CAMKV_uc003cxu.2_Missense_Mutation_p.A205T|CAMKV_uc011bcz.1_Missense_Mutation_p.A168T|CAMKV_uc011bda.1_Missense_Mutation_p.A162T|CAMKV_uc011bdb.1_Non-coding_Transcript NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 205 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACTCCAATGGCCCAGCAGTCC 0.592000 23 22 0 0 0.000878237 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156917573 156917573 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:156917573C>T uc001fqo.3 - 23 3249 c.2209G>A c.(2209-2211)Gag>Aag p.E737K ARHGEF11_uc010phu.2_Missense_Mutation_p.E153K|ARHGEF11_uc001fqn.3_Missense_Mutation_p.E777K NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 737 DH. G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTGATGACCTCTTGCCGGTCA 0.572000 23 33 0 0 0.000692331 0 0 SPINK5 11005 broad.mit.edu 37 5 147486600 147486600 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:147486600G>A uc003lox.2 + 17 1553 c.1480_splice c.e17-1 p.E494_splice SPINK5_uc010jgs.1_Splice_Site_p.E466_splice|SPINK5_uc010jgr.2_Splice_Site_p.E475_splice|SPINK5_uc003low.2_Splice_Site_p.E494_splice|SPINK5_uc003loy.2_Splice_Site_p.E494_splice NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 494 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTTCCCAGGAAATCTGCAG 0.393000 14 12 0 0 0.000151284 0 0 STXBP5L 9515 broad.mit.edu 37 3 120957838 120957838 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:120957838C>T uc003eec.4 + 12 1345 c.1205C>T c.(1204-1206)cCa>cTa p.P402L STXBP5L_uc011bji.2_Missense_Mutation_p.P402L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 402 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TTTGAAAATCCATATCCCATG 0.313000 12 9 0 0 0.000673444 0 0 BANP 54971 broad.mit.edu 37 16 88039697 88039697 + Splice_Site SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:88039697G>T uc002fkr.3 + 6 677 c.456_splice c.e6-1 p.N152_splice BANP_uc010vov.2_Splice_Site_p.C127_splice|BANP_uc002fkq.3_Splice_Site_p.C121_splice|BANP_uc002fks.4_Splice_Site_p.C121_splice|BANP_uc002fkp.3_Splice_Site_p.C121_splice|BANP_uc010vow.2_Splice_Site_p.N160_splice|BANP_uc021tml.1_Splice_Site_p.N160_splice|BANP_uc002fko.1_Splice_Site_p.N57_splice NM_001173543 NP_001167014 Q8N9N5 BANP_HUMAN Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA. 152 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) CCCGTTTAGCGCTGTGCCTGG 0.592000 10 31 1.30293e-26 7.82052e-26 0.00058488 1 0 SCAMP1 9522 broad.mit.edu 37 5 77755108 77755108 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:77755108C>T uc003kfl.3 + 8 929 c.772C>T c.(772-774)Cct>Tct p.P258S SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Non-coding_Transcript|SCAMP1_uc011ctd.2_Non-coding_Transcript|SCAMP1_uc003kfm.3_Non-coding_Transcript|SCAMP1_uc003kfn.3_5'UTR NM_004866 NP_004857 O15126 SCAM1_HUMAN Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA. 259 post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) CCAAAATATTCCTGTTGGAAT 0.308000 12 11 0 0 0.000422831 0 0 APOB 338 broad.mit.edu 37 2 21232326 21232326 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:21232326C>T uc002red.3 - 25 7542 c.7414G>A c.(7414-7416)Gaa>Aaa p.E2472K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2472 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCTTGGTTTCCTCTAAAAAC 0.408000 253 168 0 0 0.000781405 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767715 143767716 + Missense_Mutation DNP CC AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:143767715_143767716CC>AT uc001ejt.3 - 0 166_167 c.133_134GG>AT c.(133-135)gga>ATa p.G45I NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA. 45 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 ATAACGAAATCCTTTCTCTCCA 0.490000 193 9 0 0 6.4e-05 0 0 DEGS2 123099 broad.mit.edu 37 14 100613156 100613156 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:100613156G>A uc001ygx.2 - 2 1002 c.914C>T c.(913-915)tCc>tTc p.S305F NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA. 305 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GGGCCCCAGGGAGTCCTCAAA 0.622000 38 28 0 0 0.001512 0 0 C14orf39 317761 broad.mit.edu 37 14 60923639 60923639 + Missense_Mutation SNP C T T rs147627198 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:60923639C>T uc001xez.4 - 14 1464 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K C14orf39_uc010apo.3_Missense_Mutation_p.E163K NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 452 p.E452K(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCCTACATTTCGAACGGGGGG 0.318000 29 20 0 0 0.00121646 0 0 MFNG 4242 broad.mit.edu 37 22 37872944 37872944 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:37872944G>A uc003ass.2 - 4 900 c.637C>T c.(637-639)Ccg>Tcg p.P213S MFNG_uc011anj.2_Missense_Mutation_p.P199S|MFNG_uc011ani.2_Missense_Mutation_p.P91S NM_002405 NP_002396 O00587 MFNG_HUMAN Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA. 213 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) CTGGCCCACGGAGCCATCTTC 0.622000 24 15 0 0 0.000958276 0 0 CYP2C19 1557 broad.mit.edu 37 10 96480210 96480210 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:96480210G>A uc001kjv.4 + 5 1203 c.877G>A c.(877-879)Gat>Aat p.D293N CYP2C19_uc001kjw.4_Missense_Mutation_p.D234N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 293 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.A292P(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CACTGTAACTGATATGTTTGG 0.398000 7 6 0 0 0.00116845 0 0 L1TD1 54596 broad.mit.edu 37 1 62675616 62675616 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:62675616G>A uc021ooc.1 + 4 1605 c.1170G>A c.(1168-1170)gaG>gaA p.E390E L1TD1_uc001dae.4_Silent_p.E390E NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 390 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 TGGATGAAGAGGCCTCAGGGA 0.493000 56 41 0 0 0.00148497 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039448 55039448 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:55039448G>A uc003pcl.3 + 0 378 c.63G>A c.(61-63)ctG>ctA p.L21L HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 21 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTCGGAGCTGAATGAAACTC 0.537000 81 27 0 0 0.000339439 0 0 NBEAL1 65065 broad.mit.edu 37 2 204066299 204066300 + Missense_Mutation DNP CG AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:204066299_204066300CG>AT uc002uzt.3 + 48 7518_7519 c.7185_7186CG>AT c.(7183-7188)cccggg>ccATgg p.G2396W NBEAL1_uc021vvj.1_Missense_Mutation_p.G1030W NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2396 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTTTTGCTCCCGGGCTAGAGAT 0.376000 481 13 0 0 6.4e-05 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881161 35881161 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:35881161C>T uc001byt.3 + 27 4235 c.4155C>T c.(4153-4155)ttC>ttT p.F1385F ZMYM4_uc009vuu.3_Silent_p.F1353F|ZMYM4_uc001byu.3_Silent_p.F1061F|ZMYM4_uc009vuv.3_Silent_p.F1124F NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 1385 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCTCCTTTTCTTCAATACCA 0.448000 44 22 0 0 0.000375601 0 0 SETBP1 26040 broad.mit.edu 37 18 42530559 42530559 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:42530559G>A uc010dni.3 + 3 1550 c.1254G>A c.(1252-1254)agG>agA p.R418R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 418 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACCATAAGAGGAAAAAAAGAC 0.453000 Schinzel-Giedion syndrome 41 26 0 0 0.00106085 0 0 OR4K17 390436 broad.mit.edu 37 14 20586390 20586390 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20586390C>T uc001vwo.1 + 0 825 c.825C>T c.(823-825)atC>atT p.I275I NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGCTCACATCACAGTGGTGA 0.428000 11 9 0 0 0.000442599 0 0 DNAH1 25981 broad.mit.edu 37 3 52433001 52433001 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52433001G>A uc011bef.2 + 75 12486 c.12225G>A c.(12223-12225)tgG>tgA p.W4075* DNAH1_uc003ddv.3_Nonsense_Mutation_p.W933* NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 4140 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGAGCTCTGGAGTGCCAAGG 0.567000 29 29 0 0 0.000878237 0 0 GABRQ 55879 broad.mit.edu 37 X 151818284 151818284 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:151818284C>T uc004ffp.1 + 5 710 c.690C>T c.(688-690)atC>atT p.I230I NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 230 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) AGCTGCATATCCCTCAGTTCA 0.488000 5 50 0 0 0.000781405 0 0 SNRNP48 154007 broad.mit.edu 37 6 7594068 7594068 + Silent SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:7594068C>A uc003mxr.3 + 1 317 c.258C>A c.(256-258)acC>acA p.T86T SNRNP48_uc003mxs.3_Non-coding_Transcript NM_152551 NP_689764 Q6IEG0 SNR48_HUMAN Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA. 86 mRNA processing U12-type spliceosomal complex|cytoplasm metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TGGGCTATACCAAAGAAGAAG 0.323000 152 7 0.000157383 0.000923996 0.000157383 1 0 P4HA2 8974 broad.mit.edu 37 5 131546162 131546162 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:131546162G>A uc003kwh.3 - 5 1088 c.524C>T c.(523-525)tCg>tTg p.S175L P4HA2_uc003kwg.3_Missense_Mutation_p.S175L|P4HA2_uc003kwi.3_Missense_Mutation_p.S175L|P4HA2_uc003kwk.3_Missense_Mutation_p.S175L|P4HA2_uc003kwl.3_Missense_Mutation_p.S175L|P4HA2_uc003kwj.3_Missense_Mutation_p.S175L NM_004199 NP_004190 O15460 P4HA2_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA. 175 endoplasmic reticulum lumen L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding p.R174C(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) ATTGTAGGCCGAGCGGCCCAT 0.537000 129 117 0 0 0.000781405 0 0 BIRC3 330 broad.mit.edu 37 11 102207520 102207520 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:102207520G>A uc001pgx.3 + 7 4404 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K NM_182962 NP_892007 Q13489 BIRC3_HUMAN Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA. 537 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T536R(1) endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TATTCCCACAGAAGATGTTTC 0.269000 T MALT1 MALT 34 26 0 0 0.001512 0 0 RBP3 5949 broad.mit.edu 37 10 48387869 48387869 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:48387869G>A uc001jez.3 - 0 3123 c.3009C>T c.(3007-3009)atC>atT p.I1003I NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 1003 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CATTCTCAGGGATATGGGCTG 0.602000 45 44 0 0 0.000509022 0 0 SYTL1 84958 broad.mit.edu 37 1 27679914 27679915 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:27679914_27679915CC>TT uc001bnw.2 + 13 1681_1682 c.1484_1485CC>TT c.(1483-1485)tcc>tTT p.S495F SYTL1_uc001bnv.2_Missense_Mutation_p.S483F|SYTL1_uc009vsv.2_Missense_Mutation_p.S495F NM_001193308 NP_001180237 Q8IYJ3 SYTL1_HUMAN Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA. 495 C2 2. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction Rab GTPase binding|neurexin binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCCGAGCTCTCCCTCTGGGACC 0.658000 17 16 0 0 6.4e-05 0 0 GPR108 56927 broad.mit.edu 37 19 6733031 6733031 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6733031G>A uc002mfp.3 - 9 946 c.900C>T c.(898-900)gcC>gcT p.A300A GPR108_uc010duv.3_5'Flank NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA. 300 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TCTTGGTGAAGGCCAAGGCCG 0.637000 7 3 0 0 6.4e-05 0 0 ROR2 4920 broad.mit.edu 37 9 94488955 94488955 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:94488955G>A uc004arj.2 - 7 1453 c.1254C>T c.(1252-1254)atC>atT p.I418I ROR2_uc004ari.1_Silent_p.I278I|ROR2_uc004ark.3_Missense_Mutation_p.S407L NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 418 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AAAGGCAAGCGATGACCAGTG 0.537000 9 26 0 0 0.00106085 0 0 MUC6 4588 broad.mit.edu 37 11 1017853 1017853 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:1017853T>C uc001lsw.2 - 30 4999 c.4948A>G c.(4948-4950)Aca>Gca p.T1650A NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 1650 Approximate repeats.|Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCGTGCCTGTTGGCATTGAG 0.582000 500 17 0 0 0.00127121 0 0 ADRBK1 156 broad.mit.edu 37 11 67047159 67047159 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:67047159G>A uc009yrn.1 + 4 695 c.429G>A c.(427-429)ccG>ccA p.P143P NM_001619 NP_001610 P25098 ARBK1_HUMAN Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA. 143 N-terminal.|RGS. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) AGGTGCCTCCGGATCTCTTCC 0.637000 23 18 0 0 0.00074312 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130396 71130396 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:71130396G>A uc003tvy.3 + 7 1081 c.1081_splice c.e7-1 p.V361_splice WBSCR17_uc003tvz.3_Splice_Site_p.V60_splice NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 361 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V361L(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTACCCCTAGGTATGGCTCTG 0.502000 52 47 0 0 0.000781405 0 0 HRNR 388697 broad.mit.edu 37 1 152190972 152190973 + Missense_Mutation DNP CG AT AT rs150311804 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:152190972_152190973CG>AT uc001ezt.1 - 2 3208_3209 c.3132_3133CG>AT c.(3130-3135)tccggt>tcATgt p.G1045C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1045 keratinization calcium ion binding|protein binding p.S1044S(2)|p.G1045S(2) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGAGTGACCGGAGCCAGACT 0.579000 289 7 0 0 6.4e-05 0 0 ERC2 26059 broad.mit.edu 37 3 56468558 56468558 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:56468558C>T uc021wzo.1 - 0 618 c.478G>A c.(478-480)Gag>Aag p.E160K ERC2_uc003dhr.1_Missense_Mutation_p.E160K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 160 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) AGGTCATTCTCTCTCTGCAGT 0.483000 100 80 0 0 0.000781405 0 0 ATP2C2 9914 broad.mit.edu 37 16 84474536 84474536 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:84474536C>T uc010chj.3 + 13 1372 c.1283C>T c.(1282-1284)tCc>tTc p.S428F ATP2C2_uc002fhx.3_Missense_Mutation_p.S428F|ATP2C2_uc002fhy.3_Missense_Mutation_p.S445F|ATP2C2_uc002fhz.3_Missense_Mutation_p.S277F NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 428 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AAGGAATTTTCCAATGTCTCA 0.498000 12 28 0 0 0.001512 0 0 CD2AP 23607 broad.mit.edu 37 6 47541941 47541942 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47541941_47541942GG>AA uc003oyw.3 + 5 1139_1140 c.683_684GG>AA c.(682-684)cgg>cAA p.R228Q NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 228 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GTGAAACTTCGGACAAGAACAT 0.376000 43 59 0 0 6.4e-05 0 0 MKL1 57591 broad.mit.edu 37 22 40827438 40827438 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:40827438G>A uc003ayv.1 - 2 317 c.110C>T c.(109-111)tCg>tTg p.S37L MKL1_uc010gyf.1_Missense_Mutation_p.S37L|MKL1_uc003ayw.1_Missense_Mutation_p.S37L|MKL1_uc010gye.1_Missense_Mutation_p.S37L NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 37 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GACCAGCTCCGATCTCTCCGG 0.473000 T RBM15 acute megakaryocytic leukemia 131 100 0 0 0.000781405 0 0 AK310228 0 broad.mit.edu 37 16 16468240 16468240 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:16468240G>A uc002dey.2 + 4 1158 c.871G>A c.(871-873)Ggg>Agg p.G291R SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin; CATGCTGTATGGGGTGGACAG 0.667000 50 14 0 0 0.00152264 0 0 ODZ3 55714 broad.mit.edu 37 4 183600989 183600989 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:183600989G>A uc003ivd.1 + 6 1572 c.1497G>A c.(1495-1497)ggG>ggA p.G499G ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 499 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ATAATGATGGGAAAAATGCAG 0.448000 16 9 0 0 0.000274275 0 0 GPATCH1 55094 broad.mit.edu 37 19 33579109 33579109 + Missense_Mutation SNP G A A rs150368616 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:33579109G>A uc002nug.1 + 1 457 c.143G>A c.(142-144)cGa>cAa p.R48Q NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN Homo sapiens G patch domain containing 1 (GPATCH1), mRNA. 48 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) AGGTATAAACGATTCCACGGG 0.348000 55 39 0 0 0.00148497 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31813034 31813034 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:31813034G>A uc002yod.3 + 0 389 c.389G>A c.(388-390)aGg>aAg p.R130K NM_181623 NP_853654 Q3LI76 KR151_HUMAN Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA. 130 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TTTTCATCCAGGAATTTCCAG 0.453000 89 40 0 0 0.000781405 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102493981 102493982 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:102493981_102493982GG>AA uc003kod.4 + 14 2098_2099 c.1579_1580GG>AA c.(1579-1581)gga>AAa p.G527K PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.G527K|PPIP5K2_uc010jbo.2_Missense_Mutation_p.G449K NM_015216 NP_056031 O43314 VIP2_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA. 527 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGAAGAACTTGGAAGAGCCTTC 0.386000 15 7 0 0 6.4e-05 0 0 FGF21 26291 broad.mit.edu 37 19 49261309 49261309 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49261309G>A uc002pkn.1 + 3 1034 c.462G>A c.(460-462)cgG>cgA p.R154R FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.R154R NM_019113 NP_061986 Q9NSA1 FGF21_HUMAN Homo sapiens fibroblast growth factor 21 (FGF21), mRNA. 154 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCCCACACCGGGACCCTGCAC 0.682000 28 17 0 0 0.000422831 0 0 MCM6 4175 broad.mit.edu 37 2 136614338 136614338 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:136614338C>T uc002tuw.3 - 10 1662 c.1586G>A c.(1585-1587)cGa>cAa p.R529Q NM_005915 NP_005906 Q14566 MCM6_HUMAN Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA. 529 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GAGATCGAATCGGGACATGAT 0.423000 35 28 0 0 0.000878237 0 0 QSOX1 5768 broad.mit.edu 37 1 180165989 180165989 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:180165989G>A uc001gnz.3 + 11 2136 c.2061G>A c.(2059-2061)gaG>gaA p.E687E QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA. 687 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCCAGCTGGAGGCCCGAGCTG 0.667000 32 57 0 0 0.000781405 0 0 DDAH1 23576 broad.mit.edu 37 1 85817207 85817207 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:85817207G>A uc001dlb.3 - 2 620 c.459C>T c.(457-459)atC>atT p.I153I DDAH1_uc001dlc.3_Silent_p.I50I|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Silent_p.I53I|DDAH1_uc009wco.3_Silent_p.I50I NM_012137 NP_001127917 O94760 DDAH1_HUMAN Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA. 153 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) TATCAGCCAAGATTTCAGCAC 0.383000 44 26 0 0 0.00178596 0 0 OR5D13 390142 broad.mit.edu 37 11 55541558 55541558 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55541558C>T uc010ril.2 + 0 645 c.645C>T c.(643-645)atC>atT p.I215I NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCCTAATTATCATTCTGACAT 0.438000 19 8 0 0 0.000442599 0 0 IGFN1 91156 broad.mit.edu 37 1 201184788 201184788 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:201184788G>A uc001gwc.3 + 14 9247 c.9117G>A c.(9115-9117)tgG>tgA p.W3039* IGFN1_uc001gwb.3_Intron NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGGCTGCCTGGAGGAAGGACG 0.637000 29 12 0 0 0.000308642 0 0 KANK4 163782 broad.mit.edu 37 1 62739384 62739384 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:62739384C>T uc001dah.4 - 2 1769 c.1392G>A c.(1390-1392)ggG>ggA p.G464G KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 464 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GGCTCTGATTCCCTTGTTTAT 0.567000 62 49 0 0 0.000781405 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026412 129026412 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:129026412G>A uc002tpt.4 - 1 594 c.560C>T c.(559-561)cCc>cTc p.P187L NM_004807 NP_004798 O60243 H6ST1_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA. 187 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GCGGGACACGGGGTCTCGTAG 0.632000 23 19 0 0 0.00121646 0 0 PIWIL4 143689 broad.mit.edu 37 11 94300761 94300761 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:94300761C>T uc001pfa.3 + 0 288 c.77C>T c.(76-78)gCc>gTc p.A26V PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_Intron NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA. 26 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CGCATCCAAGCCTCGCCATTG 0.572000 9 12 0 0 0.000151284 0 0 CENPF 1063 broad.mit.edu 37 1 214791977 214791977 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:214791977C>T uc001hkm.3 + 3 595 c.421C>T c.(421-423)Cca>Tca p.P141S NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 141 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CTCTCTGAATCCATGCAATAC 0.388000 64 65 0 0 0.000781405 0 0 TTC7A 57217 broad.mit.edu 37 2 47300885 47300885 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:47300885G>A uc010fbb.3 + 20 2840 c.2472G>A c.(2470-2472)aaG>aaA p.K824K TTC7A_uc002rvm.3_Silent_p.K766K|TTC7A_uc002rvo.3_Silent_p.K800K|TTC7A_uc010fbc.3_Silent_p.K446K|TTC7A_uc002rvp.3_Silent_p.K681K|C2orf61_uc010fbd.3_Intron|TTC7A_uc002rvq.3_Silent_p.K540K|TTC7A_uc002rvr.3_Silent_p.K249K NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 800 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGGCCCAGAAGGTGCTTCGTG 0.652000 46 28 0 0 0.000339439 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806869 97806869 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:97806869C>T uc011bgs.2 + 0 853 c.853C>T c.(853-855)Ccc>Tcc p.P285S NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I284F(1) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 GATTATAATTCCCCTGCTAAA 0.373000 15 12 0 0 0.000978159 0 0 KRT9 3857 broad.mit.edu 37 17 39724455 39724455 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39724455G>A uc002hxe.4 - 5 1419 c.1353C>T c.(1351-1353)atC>atT p.I451I JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 451 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GGTAGGTCTCGATTTCCTTCT 0.552000 39 21 0 0 0.00047179 0 0 ABCA6 23460 broad.mit.edu 37 17 67096943 67096943 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:67096943G>A uc002jhw.1 - 21 3182 c.3007C>T c.(3007-3009)Cct>Tct p.P1003S MIR4524A_uc021ucg.1_5'Flank NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1003 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTTACAAGAGGAAATGGGCTT 0.318000 12 27 0 0 0.001512 0 0 DNAH5 1767 broad.mit.edu 37 5 13753464 13753464 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:13753464C>T uc003jfd.2 - 62 10792 c.10750G>A c.(10750-10752)Gat>Aat p.D3584N DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3584 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACAAGTCATCATTTGGCAGA 0.388000 Kartagener syndrome 29 12 0 0 0.000978159 0 0 USP8 9101 broad.mit.edu 37 15 50791221 50791221 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:50791221C>T uc001zym.4 + 20 3793 c.3293C>T c.(3292-3294)tCt>tTt p.S1098F USP8_uc001zyl.4_Missense_Mutation_p.S1098F|USP8_uc001zyn.4_Missense_Mutation_p.S1098F|USP8_uc010ufh.2_Missense_Mutation_p.S992F|USP8_uc001zyp.4_Missense_Mutation_p.S265F NM_001128611 NP_005145 P40818 UBP8_HUMAN Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA. 1098 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TCTGTGAAATCTTCAGCAGCT 0.378000 40 35 0 0 0.00058488 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801030 133801030 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:133801030C>T uc001qgx.4 - 11 1600 c.1369_splice c.e11-1 p.V457_splice IGSF9B_uc001qgy.1_Splice_Site_p.V299_splice NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 457 Ig-like 5. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTTCCCTACCTTGGTGAACA 0.637000 35 17 0 0 0.000229342 0 0 EIF2C3 192669 broad.mit.edu 37 1 36439063 36439063 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:36439063C>T uc001bzp.3 + 4 954 c.609C>T c.(607-609)ttC>ttT p.F203F EIF2C3_uc001bzn.1_Silent_p.F203F|EIF2C3_uc001bzq.3_Intron NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA. 203 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4) 33 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTTTGGATTCCATCAGTCTG 0.458000 58 57 0 0 0.000781405 0 0 OR4K5 79317 broad.mit.edu 37 14 20389662 20389662 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20389662G>A uc010tkw.2 + 0 897 c.897G>A c.(895-897)agG>agA p.R299R NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCCGTAAGGAAAATTGTGA 0.383000 44 16 0 0 0.000566183 0 0 RARS 5917 broad.mit.edu 37 5 167915683 167915683 + Nonsense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:167915683T>A uc003lzx.3 + 1 163 c.122T>A c.(121-123)tTg>tAg p.L41* RARS_uc011deo.2_5'UTR NM_002887 NP_002878 P54136 SYRC_HUMAN Homo sapiens arginyl-tRNA synthetase (RARS), mRNA. 41 Could be involved in the assembly of the multisynthetase complex. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|arginine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TCTCCAAATTTGGAGCAGTTA 0.353000 36 37 0 0 0.000953801 0 0 KAT2B 8850 broad.mit.edu 37 3 20136881 20136881 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:20136881T>A uc003cbq.3 + 2 1003 c.557T>A c.(556-558)gTt>gAt p.V186D NM_003884 NP_003875 Q92831 KAT2B_HUMAN Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA. 186 N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 ACCAAACAAGTTTATTTCTAT 0.368000 14 7 0 0 8.12818e-05 0 0 CYP39A1 51302 broad.mit.edu 37 6 46593237 46593237 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:46593237A>G uc003oyf.1 - 6 1053 c.849T>C c.(847-849)ttT>ttC p.F283F CYP39A1_uc011dwa.1_Silent_p.F263F|CYP39A1_uc010jzd.1_Silent_p.F111F NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA. 283 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 CAAGTGTCCAAAATGCAACCT 0.313000 87 28 0 0 0.00127121 0 0 abParts 0 broad.mit.edu 37 14 106780696 106780696 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:106780696C>T uc021ser.1 - 655 c.17998G>A Parts of antibodies, mostly variable regions. GCTGCCGGATCCAGCCCCACC 0.582000 31 20 0 0 0.00152264 0 0 CPLX2 10814 broad.mit.edu 37 5 175305757 175305757 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:175305757G>A uc003mde.1 + 2 361 c.15G>A c.(13-15)atG>atA p.M5I CPLX2_uc003mdf.1_Missense_Mutation_p.M5I NM_006650 NP_006641 Q6PUV4 CPLX2_HUMAN Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA. 5 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACTTCGTCATGAAGCAGGCCC 0.667000 32 12 0 0 0.000308642 0 0 NRXN3 9369 broad.mit.edu 37 14 79432563 79432563 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:79432563G>A uc001xun.3 + 8 1963 c.1472G>A c.(1471-1473)gGa>gAa p.G491E NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G616E NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTCGTTTTGGACTGAGGAAC 0.468000 32 24 0 0 0.000586117 0 0 TLR8 51311 broad.mit.edu 37 X 12939813 12939813 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:12939813C>T uc004cvd.3 + 2 2878 c.2708C>T c.(2707-2709)tCt>tTt p.S903F TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.S885F NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 885 TIR. I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GCTTACATTTCTTATGACACC 0.403000 6 31 0 0 0.000339439 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758725 62758725 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:62758725C>T uc011kdj.2 - 1 153 c.85G>A c.(85-87)Gaa>Aaa p.E29K Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA. CATTGCCATTCCTCCAGAGAG 0.418000 15 14 0 0 0.000422831 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140236762 140236762 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140236762G>A uc003lhx.2 + 0 1129 c.1129G>A c.(1129-1131)Gat>Aat p.D377N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.D377N|PCDHAC2_uc011dad.2_Missense_Mutation_p.D377N NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 393 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGACCATGATTCAGGAGC 0.502000 53 48 0 0 0.000781405 0 0 KRT31 3881 broad.mit.edu 37 17 39552765 39552765 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39552765G>A uc002hwn.3 - 2 548 c.495C>T c.(493-495)atC>atT p.I165I KRT31_uc010cxn.3_Silent_p.I165I NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 165 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCTCATCCAGGATCCTGCGCA 0.607000 26 23 0 0 0.00047179 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166915 180166915 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:180166915G>A uc003mmf.1 - 0 144 c.144C>T c.(142-144)ctC>ctT p.L48L NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A47T(1)|p.L48V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTAGCCAGGAGAGAGCGATGA 0.512000 28 20 0 0 0.00152264 0 0 SEC24D 9871 broad.mit.edu 37 4 119661857 119661857 + Silent SNP G A A rs140046192 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:119661857G>A uc003ici.4 - 16 2471 c.2199C>T c.(2197-2199)caC>caT p.H733H SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.H734H|SEC24D_uc003icl.2_Non-coding_Transcript NM_014822 NP_055637 O94855 SC24D_HUMAN Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA. 733 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GTTTGTCATCGTGCTTGAACT 0.453000 41 21 0 0 0.000720815 0 0 ZNF548 147694 broad.mit.edu 37 19 57911020 57911020 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:57911020G>A uc002qon.3 + 3 1651 c.1401G>A c.(1399-1401)ggG>ggA p.G467G ZNF548_uc002qom.3_Silent_p.G455G|ZNF17_uc021vck.1_Intron NM_001172773 NP_001166244 Q8NEK5 ZN548_HUMAN Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA. 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGAGTGTGGGAAAGCCTTTA 0.448000 30 21 0 0 0.000295444 0 0 CFH 3075 broad.mit.edu 37 1 196881972 196881972 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196881972G>A uc001gtp.3 + 6 1237 c.1100G>A c.(1099-1101)gGa>gAa p.G367E CFH_uc021pgt.1_Missense_Mutation_p.G49E|CFH_uc009wyy.3_Missense_Mutation_p.G366E|CFH_uc001gto.3_Missense_Mutation_p.G120E NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 722 Sushi 6. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 tGTAAACCAGGATATGCAACA 0.294000 35 33 0 0 0.00178596 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813976 106813976 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:106813976A>G uc003ymd.3 + 7 1689 c.1666A>G c.(1666-1668)Aca>Gca p.T556A ZFPM2_uc011lhs.2_Missense_Mutation_p.T287A NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 556 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GTGTAACATAACATTCAATAA 0.473000 27 18 0 0 0.00074312 0 0 ITGB3 3690 broad.mit.edu 37 17 45369600 45369600 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:45369600C>T uc002ilj.3 + 9 1376 c.1356C>T c.(1354-1356)atC>atT p.I452I ITGB3_uc010wkr.1_Non-coding_Transcript NM_000212 NP_000203 P05106 ITB3_HUMAN Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA. 452 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ACAGCCTGATCGTCCAGGTCA 0.547000 35 25 0 0 0.00047179 0 0 NBEAL1 65065 broad.mit.edu 37 2 203914536 203914537 + Splice_Site DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:203914536_203914537GG>TT uc002uzt.3 + 4 477 c.144_splice c.e4-1 p.R48_splice NBEAL1_uc002uzq.3_Splice_Site_p.R48_splice|NBEAL1_uc010zid.1_Intron|NBEAL1_uc010zie.1_Splice_Site NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 48 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTCTGTTGTAGGGTAGATGATA 0.391000 305 10 0 0 6.4e-05 0 0 ATXN2 6311 broad.mit.edu 37 12 111990746 111990746 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:111990746A>G uc001tsj.3 - 3 1026 c.864T>C c.(862-864)ggT>ggC p.G288G ATXN2_uc001tsh.3_Silent_p.G23G|ATXN2_uc001tsi.3_Intron|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Silent_p.G23G NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 288 RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network RNA binding|protein C-terminus binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CTTCATATATACCTCCATTTT 0.294000 13 36 0 0 0.000437636 0 0 ZNF699 374879 broad.mit.edu 37 19 9413135 9413135 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9413135C>T uc002mlc.1 - 1 94 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_198535 NP_940937 Q32M78 ZN699_HUMAN Homo sapiens zinc finger protein 699 (ZNF699), mRNA. 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAAGCCCATTCCTCCTGGGTA 0.443000 52 31 0 0 0.000491102 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269457 150269457 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:150269457C>T uc003whl.3 + 2 381 c.299C>T c.(298-300)tCc>tTc p.S100F GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.S114F NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 100 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGAAACGTCCAAGGAGATT 0.517000 18 22 0 0 0.000229342 0 0 SSPO 23145 broad.mit.edu 37 7 149516409 149516409 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:149516409C>T uc010lpk.3 + 83 11803 c.11803C>T c.(11803-11805)Cct>Tct p.P3935S SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3938 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCGTGTGCCCTGGCCCTGG 0.687000 25 13 0 0 0.000422831 0 0 C6orf170 221322 broad.mit.edu 37 6 121560297 121560297 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:121560297A>G uc003pyo.1 - 19 2351 c.2283T>C c.(2281-2283)aaT>aaC p.N761N C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Silent_p.N280N NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 761 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) CATATTCCAGATTGGACCATA 0.333000 19 27 0 0 0.001512 0 0 SPP2 6694 broad.mit.edu 37 2 234969029 234969029 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:234969029G>A uc002vvk.1 + 3 435 c.350G>A c.(349-351)aGa>aAa p.R117K SPP2_uc010fyl.1_Missense_Mutation_p.R37K NM_006944 NP_008875 Q13103 SPP24_HUMAN Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA. 117 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GCTGTTTGCAGAAGCACCGTG 0.512000 30 25 0 0 0.000720815 0 0 OR2M5 127059 broad.mit.edu 37 1 248308997 248308997 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248308997C>T uc010pze.2 + 0 548 c.548C>T c.(547-549)tCc>tTc p.S183F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GACTTCCCTTCCCTACTAATC 0.418000 78 33 0 0 0.000692331 0 0 KCNH2 3757 broad.mit.edu 37 7 150648096 150648096 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:150648096G>A uc003wic.3 - 7 2459 c.2058C>T c.(2056-2058)ttC>ttT p.F686F KCNH2_uc003wib.3_Silent_p.F346F|KCNH2_uc011kux.2_Silent_p.F590F|KCNH2_uc003wid.3_Silent_p.F346F|KCNH2_uc003wie.3_Silent_p.F686F NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 686 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGATCTGGTGGAAGCGGATGA 0.632000 21 16 0 0 0.000308642 0 0 SATB1 6304 broad.mit.edu 37 3 18462346 18462346 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:18462346G>A uc003cbh.3 - 1 1849 c.114C>T c.(112-114)agC>agT p.S38S SATB1_uc003cbi.3_Silent_p.S38S|SATB1_uc003cbj.3_Silent_p.S38S NM_002971 NP_002962 Q01826 SATB1_HUMAN Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA. 38 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter PML body|nuclear matrix double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTCCTAGCGGGCTCCCGTTCT 0.512000 52 33 0 0 0.00058488 0 0 CREBZF 58487 broad.mit.edu 37 11 85375599 85375599 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:85375599C>T uc001pas.2 - 0 584 c.321G>A c.(319-321)ctG>ctA p.L107L CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA. 107 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GGAGATCCGCCAGTTCCAGCC 0.697000 50 47 0 0 0.000781405 0 0 C2orf16 84226 broad.mit.edu 37 2 27801313 27801313 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27801313G>A uc002rkz.4 + 0 1925 c.1874G>A c.(1873-1875)gGa>gAa p.G625E NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 625 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTAGAATCAGGAATTGAAGCA 0.423000 24 18 0 0 0.00074312 0 0 CSMD3 114788 broad.mit.edu 37 8 113697892 113697892 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:113697892C>T uc003ynu.3 - 14 2384 c.2225G>A c.(2224-2226)gGa>gAa p.G742E CSMD3_uc003yns.3_Missense_Mutation_p.G14E|CSMD3_uc003ynt.3_Missense_Mutation_p.G702E|CSMD3_uc011lhx.2_Missense_Mutation_p.G638E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 742 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAAATTATTTCCATACCCTTC 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 21 0 0 0.000375601 0 0 OR8U8 504189 broad.mit.edu 37 11 56143797 56143797 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56143797G>A uc001nit.2 + 0 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001013356 NP_001013374 P0C7N1 OR8U8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G233V(1) TCAGCTGAGGGAAGACAGAAG 0.463000 6 7 0 0 0.000274275 0 0 NPY5R 4889 broad.mit.edu 37 4 164272412 164272412 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:164272412C>T uc003iqn.3 + 3 1169 c.987C>T c.(985-987)ttC>ttT p.F329F NPY5R_uc021xtw.1_Silent_p.F329F NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 329 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CCAGTAAGTTCATACCAGGGG 0.393000 24 15 0 0 0.000308642 0 0 MIA2 117153 broad.mit.edu 37 14 39717065 39717065 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:39717065G>A uc001wux.3 + 3 1481 c.1287G>A c.(1285-1287)acG>acA p.T429T MIA2_uc010amy.2_Silent_p.T360T NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 429 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) AAATAGAAACGATAAAAATTA 0.323000 48 33 0 0 0.00058488 0 0 C15orf2 23742 broad.mit.edu 37 15 24921240 24921240 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:24921240C>T uc001ywo.3 + 0 700 c.226C>T c.(226-228)Cgg>Tgg p.R76W NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 76 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCCTCTCCCTCGGGCTGCGGC 0.711000 20 12 0 0 0.000151284 0 0 GPR162 27239 broad.mit.edu 37 12 6939701 6939701 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:6939701T>C uc001qra.1 + 3 867 c.833T>C c.(832-834)cTc>cCc p.L278P GPR162_uc001qrb.1_Missense_Mutation_p.L86P NM_014262 NP_055077 Q16538 GP162_HUMAN Homo sapiens leprecan-like 2 (LEPREL2), mRNA. 356 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CAGGGGGGCCTCTATGAGGCC 0.637000 2 9 0 0 0.000274275 0 0 INPP5J 27124 broad.mit.edu 37 22 31524544 31524544 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:31524544G>A uc003aju.4 + 8 2189 c.2097G>A c.(2095-2097)aaG>aaA p.K699K INPP5J_uc003ajw.3_Silent_p.K135K|INPP5J_uc003ajt.4_Silent_p.K331K|INPP5J_uc003ajv.4_Silent_p.K332K|INPP5J_uc003ajs.4_Silent_p.K332K|INPP5J_uc011alk.2_Silent_p.K632K|INPP5J_uc010gwg.3_Silent_p.K264K NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA. 699 Catalytic (Potential). cytoplasm|ruffle SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CAGGACGGAAGAGCCACCGAC 0.607000 20 21 0 0 0.000295444 0 0 TCERG1 10915 broad.mit.edu 37 5 145838453 145838453 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:145838453T>C uc003lob.3 + 3 485 c.445T>C c.(445-447)Tat>Cat p.Y149H TCERG1_uc003loc.3_Missense_Mutation_p.Y149H|TCERG1_uc011dbt.2_Missense_Mutation_p.Y149H NM_006706 NP_006697 O14776 TCRG1_HUMAN Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA. 149 WW 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGTTTATTATTATAATGC 0.368000 53 49 0 0 0.000781405 0 0 EPHA8 2046 broad.mit.edu 37 1 22902869 22902869 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22902869G>A uc001bfx.1 + 2 444 c.319G>A c.(319-321)Gac>Aac p.D107N EPHA8_uc001bfw.3_Missense_Mutation_p.D107N NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 107 integral to plasma membrane ATP binding|ephrin receptor activity p.R106R(1)|p.R106H(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TACCCTGCGCGACTGCAACAG 0.622000 31 22 0 0 0.00047179 0 0 PES1 23481 broad.mit.edu 37 22 30977392 30977392 + Missense_Mutation SNP C T T rs145353108 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:30977392C>T uc003aij.2 - 7 858 c.751G>A c.(751-753)Gag>Aag p.E251K PES1_uc003aik.2_Missense_Mutation_p.E251K|PES1_uc003aio.1_Missense_Mutation_p.E112K|PES1_uc003ain.1_Missense_Mutation_p.E112K NM_014303 NP_055118 O00541 PESC_HUMAN Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA. 251 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor protein binding p.E251K(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 GCCTGACCCTCGAGCTAGTAG 0.632000 25 20 0 0 0.00121646 0 0 KANSL1L 151050 broad.mit.edu 37 2 210968836 210968836 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:210968836C>T uc002vds.3 - 3 1628 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K KANSL1L_uc002vdt.3_Missense_Mutation_p.E474K|KANSL1L_uc002vdw.3_Missense_Mutation_p.E474K|KANSL1L_uc002vdv.3_Missense_Mutation_p.E474K|KANSL1L_uc002vdx.1_Missense_Mutation_p.E474K NM_152519 NP_689732 A0AUZ9 CB067_HUMAN Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA. 474 ACCTGTTTTTCGATGTTTCGA 0.368000 28 18 0 0 0.00152264 0 0 SCN10A 6336 broad.mit.edu 37 3 38753718 38753718 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:38753718G>A uc003ciq.3 - 21 4023 c.4023C>T c.(4021-4023)ttC>ttT p.F1341F NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1341 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGACCCAGAAGAAGCTGCCAG 0.438000 46 52 0 0 0.000781405 0 0 PDE6C 5146 broad.mit.edu 37 10 95372844 95372844 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:95372844C>T uc001kiu.4 + 0 500 c.362C>T c.(361-363)tCc>tTc p.S121F NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 121 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding p.T120fs*23(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACCCCCACCTCCAAGTTTGAG 0.562000 35 27 0 0 0.000339439 0 0 VEZT 55591 broad.mit.edu 37 12 95694281 95694281 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:95694281G>A uc001tdz.2 + 11 2277 c.2172G>A c.(2170-2172)caG>caA p.Q724Q VEZT_uc001tds.3_Silent_p.Q676Q|VEZT_uc001tdv.3_Silent_p.Q697Q|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Silent_p.Q89Q|VEZT_uc001tdy.2_Non-coding_Transcript NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 724 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CCATTAAGCAGAGGCTGGCAC 0.527000 9 37 0 0 0.000814825 0 0 CLEC16A 23274 broad.mit.edu 37 16 11219850 11219850 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:11219850C>T uc021tcy.1 + 21 2718 c.2488C>T c.(2488-2490)Cca>Tca p.P830S CLEC16A_uc002dan.4_Missense_Mutation_p.P812S|CLEC16A_uc002dao.3_Missense_Mutation_p.P828S|CLEC16A_uc002dap.3_5'UTR NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA. 830 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCTGGACCTCCCAATCCAGCC 0.612000 98 81 0 0 0.000781405 0 0 LAMA1 284217 broad.mit.edu 37 18 7024406 7024406 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:7024406G>T uc002knm.3 - 17 2556 c.2462C>A c.(2461-2463)cCg>cAg p.P821Q LAMA1_uc010wzj.2_Missense_Mutation_p.P297Q NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 821 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGTAGCCCGGGGCACACCA 0.418000 27 21 3.08376e-08 1.82243e-07 0.00047179 1 0 COL7A1 1294 broad.mit.edu 37 3 48626411 48626411 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:48626411G>A uc003ctz.2 - 17 2333 c.2332C>T c.(2332-2334)Cgt>Tgt p.R778C NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 778 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCGACACACGACCCACAGGC 0.602000 53 29 0 0 0.000409698 0 0 COL3A1 1281 broad.mit.edu 37 2 189864098 189864098 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:189864098G>A uc002uqj.1 + 29 2227 c.2110G>A c.(2110-2112)Gaa>Aaa p.E704K NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 704 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCCTGGTCCCGAAGGAGGAAA 0.483000 3 3 0 0 6.4e-05 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128160 68128160 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:68128160G>A uc002jiq.3 + 2 168 c.28G>A c.(28-30)Gaa>Aaa p.E10K KCNJ16_uc002jin.3_5'UTR|KCNJ16_uc002jio.3_5'UTR|KCNJ16_uc002jip.3_5'UTR|KCNJ16_uc021uch.1_5'Flank NM_170742 NP_733938 Q9NPI9 IRK16_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA. 0 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CCCAAACCAAGAAATAGCAAC 0.358000 10 10 0 0 0.000673444 0 0 SPAG1 6674 broad.mit.edu 37 8 101178046 101178046 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:101178046G>T uc003yjh.2 + 2 231 c.145G>T c.(145-147)Ggt>Tgt p.G49C SPAG1_uc003yjg.1_Missense_Mutation_p.G49C|SPAG1_uc003yji.2_Missense_Mutation_p.G49C NM_172218 NP_757367 Q07617 SPAG1_HUMAN Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. 49 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TTTAAGATCTGGTGAGGAAGG 0.418000 29 13 6.31663e-08 3.73024e-07 0.000308642 1 0 ACSM1 116285 broad.mit.edu 37 16 20702464 20702464 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:20702464G>A uc002dhm.1 - 0 115 c.47C>T c.(46-48)tCc>tTc p.S16F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S16F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 16 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GTTGTGGAAGGATTTGTGGAT 0.522000 61 44 0 0 0.000781405 0 0 RNF168 165918 broad.mit.edu 37 3 196199338 196199338 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:196199338G>A uc003fwq.3 - 5 1663 c.1068C>T c.(1066-1068)gcC>gcT p.A356A RNF168_uc010iah.3_Silent_p.A189A NM_152617 NP_689830 Q8IYW5 RN168_HUMAN Homo sapiens ring finger protein 168 (RNF168), mRNA. 356 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CTGATGTGGGGGCGCACCCAC 0.453000 68 70 0 0 0.000781405 0 0 GCK 2645 broad.mit.edu 37 7 44190561 44190561 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:44190561G>A uc003tkl.2 - 3 947 c.477C>T c.(475-477)atC>atT p.I159I GCK_uc003tkj.1_Silent_p.I158I|GCK_uc003tkk.1_Silent_p.I160I NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 159 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.E158K(2) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CCACCTTATCGATGTCTTCGT 0.567000 163 135 0 0 0.000781405 0 0 BRCA2 675 broad.mit.edu 37 13 32903615 32903615 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:32903615C>T uc001uub.1 + 7 894 c.667C>T c.(667-669)Cat>Tat p.H223Y BRCA2_uc001uua.1_Missense_Mutation_p.H100Y NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 223 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGTATTTCCTCATGATACTAC 0.259000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 17 21 0 0 0.000229342 0 0 REG1A 5967 broad.mit.edu 37 2 79349995 79349995 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:79349995C>T uc010ysd.2 + 3 417 c.350C>T c.(349-351)tCc>tTc p.S117F REG1A_uc002snz.3_Missense_Mutation_p.S117F NM_002909 NP_002900 P05451 REG1A_HUMAN Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA. 117 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 AGCAGTGGGTCCCTGGTCTCC 0.567000 31 20 0 0 0.00047179 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674707 71674707 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:71674707G>A uc002fau.3 + 2 1073 c.1010G>A c.(1009-1011)aGa>aAa p.R337K PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA. 340 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) TGCAAAACAAGAGAGAGGCTC 0.582000 31 28 0 0 0.00106085 0 0 ADORA3 140 broad.mit.edu 37 1 112033353 112033353 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:112033353G>A uc001ebf.3 - 1 1149 c.382C>T c.(382-384)Cta>Tta p.L128L ADORA3_uc001ebg.4_Silent_p.L47L|U6_uc021orr.1_5'Flank NM_020683 NP_065734 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA. 253 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGGAATGATAGAATGCACCCA 0.453000 32 22 0 0 0.000295444 0 0 PSG4 5672 broad.mit.edu 37 19 43699279 43699279 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43699279C>T uc002ovy.3 - 3 958 c.856G>A c.(856-858)Gta>Ata p.V286I PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.V193I NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 286 Ig-like C2-type 2. V -> A (in dbSNP:rs2355442). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGTCGCTTTACCCTGGGACTG 0.448000 121 85 0 0 0.000781405 0 0 LRIG2 9860 broad.mit.edu 37 1 113637023 113637023 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:113637023C>T uc001edf.1 + 4 776 c.578C>T c.(577-579)tCc>tTc p.S193F LRIG2_uc009wgn.1_Missense_Mutation_p.S90F NM_014813 NP_055628 O94898 LRIG2_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA. 193 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TTATCAAGTTCCTTATTAGTG 0.348000 50 48 0 0 0.000781405 0 0 ABRA 137735 broad.mit.edu 37 8 107773302 107773302 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:107773302C>T uc003ymm.4 - 1 1163 c.1109G>A c.(1108-1110)gGc>gAc p.G370D NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN Homo sapiens actin-binding Rho activating protein (ABRA), mRNA. 370 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTCATCTCGGCCTTGCCATAG 0.428000 99 65 0 0 0.000781405 0 0 MLL3 58508 broad.mit.edu 37 7 151879201 151879201 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:151879201G>A uc003wla.3 - 35 5963 c.5744C>T c.(5743-5745)tCc>tTc p.S1915F MLL3_uc003wkz.3_Missense_Mutation_p.S976F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1915 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTTCTTCTGGAAAAACTATG 0.473000 N medulloblastoma 55 41 0 0 0.00148497 0 0 FRRS1 391059 broad.mit.edu 37 1 100212969 100212969 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:100212969G>A uc001dsh.1 - 3 816 c.214C>T c.(214-216)Cca>Tca p.P72S NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA. 72 Reelin. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CCTTTAAATGGATGCCCTGAC 0.368000 68 56 0 0 0.000781405 0 0 OR2W3 343171 broad.mit.edu 37 1 248059530 248059530 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248059530C>T uc010pzb.2 + 0 642 c.642C>T c.(640-642)atC>atT p.I214I OR2W3_uc001idp.1_Silent_p.I214I NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGTGTTTATCCTGCTCTCTT 0.587000 75 97 0 0 0.000781405 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424004 47424004 + Missense_Mutation SNP A C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:47424004A>C uc010ekv.3 + 0 2072 c.2072A>C c.(2071-2073)aAt>aCt p.N691T NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA. 691 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CGGCGGGATAATCATTTAGTC 0.453000 12 7 0 0 8.12818e-05 0 0 SETBP1 26040 broad.mit.edu 37 18 42531999 42531999 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:42531999C>T uc010dni.3 + 3 2990 c.2694C>T c.(2692-2694)tcC>tcT p.S898S NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 898 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ATTTCTGCTCCCTGGACAACC 0.552000 Schinzel-Giedion syndrome 12 18 0 0 0.000566183 0 0 PKP2 5318 broad.mit.edu 37 12 33030884 33030884 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:33030884C>T uc001rlj.4 - 2 1045 c.930G>A c.(928-930)gtG>gtA p.V310V PKP2_uc001rlk.4_Silent_p.V310V|PKP2_uc010skj.2_Silent_p.V310V NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 310 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CGCTGGAATCCACGGCGACAC 0.637000 2 27 0 0 0.001512 0 0 KIF13B 23303 broad.mit.edu 37 8 29033619 29033619 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:29033619G>A uc003xhh.4 - 9 970 c.911C>T c.(910-912)cCa>cTa p.P304L KIF13B_uc003xhj.2_Missense_Mutation_p.P201L|KIF13B_uc010lvf.1_Missense_Mutation_p.P240L NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN Homo sapiens kinesin family member 13B (KIF13B), mRNA. 304 T cell activation|microtubule-based movement|protein targeting|signal transduction cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding p.P304A(1) endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GTCACGATATGGAACAAATTT 0.428000 22 8 0 0 0.000274275 0 0 DNAH8 1769 broad.mit.edu 37 6 38980282 38980282 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:38980282G>A uc021yzh.1 + 90 13692 c.13583G>A c.(13582-13584)aGa>aAa p.R4528K DNAH8_uc003ooe.2_Missense_Mutation_p.R4311K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTCTGGAAAAGAGTGTCTTGG 0.413000 76 18 0 0 0.00121646 0 0 DPT 1805 broad.mit.edu 37 1 168670275 168670275 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:168670275G>A uc001gfp.3 - 2 549 c.519C>T c.(517-519)acC>acT p.T173T NM_001937 NP_001928 Q07507 DERM_HUMAN Homo sapiens dermatopontin (DPT), mRNA. 173 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CAGAGAAAGTGGTTGTTGCTC 0.453000 65 84 0 0 0.000781405 0 0 SULT1B1 27284 broad.mit.edu 37 4 70615468 70615468 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:70615468G>A uc003hen.3 - 3 644 c.346C>T c.(346-348)Cct>Tct p.P116S NM_014465 NP_055280 O43704 ST1B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA. 116 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 AAAGATTTAGGAAGAAGATCA 0.368000 66 27 0 0 0.00058488 0 0 FANCM 57697 broad.mit.edu 37 14 45605493 45605493 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:45605493A>G uc001wwd.4 + 0 358 c.259A>G c.(259-261)Acc>Gcc p.T87A FANCM_uc001wwc.2_Missense_Mutation_p.T87A|FANCM_uc010anf.3_Missense_Mutation_p.T87A|FKBP3_uc010tqf.2_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 87 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GATTTACCCTACCAATTGCCC 0.577000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 44 12 0 0 0.000151284 0 0 CHGB 1114 broad.mit.edu 37 20 5897513 5897513 + Silent SNP G A A rs141825852 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:5897513G>A uc002wmg.3 + 2 444 c.138G>A c.(136-138)tcG>tcA p.S46S CHGB_uc010zqz.2_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 46 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ATGCCTTGTCGAAGTCCAGCG 0.557000 36 24 0 0 0.000720815 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409643 19409643 + RNA SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:19409643G>A uc010tcj.1 - 0 c.36467C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AAGCCTCTTTGGATATTAATT 0.328000 52 36 0 0 0.000814825 0 0 CCDC54 84692 broad.mit.edu 37 3 107096864 107096864 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:107096864G>A uc003dwi.1 + 0 677 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 144 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GACAGAACTGGAAATTCAGAA 0.388000 21 25 0 0 0.000375601 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022597 20022598 + Missense_Mutation DNP AG TA TA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:20022597_20022598AG>TA uc011kyq.2 - 9 1350_1351 c.879_880CT>TA c.(877-882)ctcttt>ctTAtt p.F294I SLC18A1_uc003wzm.3_Missense_Mutation_p.F294I|SLC18A1_uc011kyr.2_Missense_Mutation_p.F294I|SLC18A1_uc003wzn.3_Missense_Mutation_p.F294I|SLC18A1_uc010ltf.3_Non-coding_Transcript NM_001135691 NP_003044 P54219 VMAT1_HUMAN Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA. 294 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AGAAGCATAAAGAGGGGAGTCC 0.495000 33 28 0 0 6.4e-05 0 0 CLTCL1 8218 broad.mit.edu 37 22 19197920 19197920 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:19197920G>A uc021wle.1 - 19 3240 c.3165C>T c.(3163-3165)atC>atT p.I1055I CLTCL1_uc021wld.1_Silent_p.I1055I|CLTCL1_uc021wlc.1_Silent_p.I1055I|CLTCL1_uc021wlf.1_Silent_p.I1055I|CLTCL1_uc011agw.1_Silent_p.I1055I|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_Silent_p.I15I|CLTCL1_uc002zpe.2_Silent_p.I15I NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 1055 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CGATGCTCGCGATGTCCAGTG 0.537000 T ? ALCL 28 31 0 0 0.000409698 0 0 PRPF18 8559 broad.mit.edu 37 10 13656021 13656021 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:13656021C>T uc001imp.3 + 7 875 c.727C>T c.(727-729)Cct>Tct p.P243S PRPF18_uc001imq.3_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA. 243 RNA splicing|mRNA processing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 TCAGAATCTTCCTGCTGATAT 0.279000 21 16 0 0 0.000308642 0 0 TBX20 57057 broad.mit.edu 37 7 35242073 35242073 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:35242073T>C uc011kas.2 - 7 1793 c.1313A>G c.(1312-1314)cAt>cGt p.H438R NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 438 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGCAGAGGAATGGCGTAGTCC 0.498000 2 5 0 0 0.000157383 0 0 CAD 790 broad.mit.edu 37 2 27447350 27447350 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27447350G>A uc002rji.3 + 8 1408 c.1246G>A c.(1246-1248)Ggc>Agc p.G416S CAD_uc010eyw.3_Missense_Mutation_p.G416S NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 416 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGACTACTCGGGCTCTCAGGT 0.567000 42 25 0 0 0.000586117 0 0 P4HA1 5033 broad.mit.edu 37 10 74833576 74833576 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:74833576G>A uc021ptk.1 - 1 118 c.86C>T c.(85-87)aCt>aTt p.T29I P4HA1_uc010qka.2_Missense_Mutation_p.T29I|P4HA1_uc001jth.3_Missense_Mutation_p.T29I|P4HA1_uc001jtg.3_Missense_Mutation_p.T29I|P4HA1_uc010qkb.2_Missense_Mutation_p.T29I|P4HA1_uc021ptj.1_Missense_Mutation_p.T29I NM_001142595 NP_001136067 P13674 P4HA1_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA. 29 endoplasmic reticulum lumen|mitochondrion L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GATCAAATCAGTCATCTGACC 0.333000 37 31 0 0 0.00178596 0 0 PHLPP1 23239 broad.mit.edu 37 18 60612419 60612419 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:60612419T>G uc021ule.1 + 11 3484 c.3239T>G c.(3238-3240)aTg>aGg p.M1080R NM_194449 NP_919431 O60346 PHLP1_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA. 1080 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 ACAACGATCATGAATTGCAGG 0.433000 26 22 0 0 0.000295444 0 0 FADS2 9415 broad.mit.edu 37 11 61631251 61631251 + Nonsense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:61631251G>T uc001nsl.1 + 9 1300 c.1150G>T c.(1150-1152)Gag>Tag p.E384* FADS2_uc001nsj.2_Nonsense_Mutation_p.E362*|FADS2_uc010rlo.1_Nonsense_Mutation_p.E353*|FADS2_uc001nsk.3_Nonsense_Mutation_p.E384* NM_004265 NP_004256 O95864 FADS2_HUMAN Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. 384 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CTTCCAGATTGAGCACCAGTG 0.622000 15 13 1.52009e-12 9.05646e-12 0.000308642 1 0 MAPK10 5602 broad.mit.edu 37 4 87023060 87023060 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:87023060C>T uc003hps.3 - 6 1237 c.551G>A c.(550-552)gGa>gAa p.G184E MAPK10_uc010ikg.3_Missense_Mutation_p.G146E|MAPK10_uc003hpr.3_Missense_Mutation_p.G146E|MAPK10_uc003hpt.3_Missense_Mutation_p.G184E|MAPK10_uc003hpu.3_Missense_Mutation_p.G184E|MAPK10_uc003hpv.3_Missense_Mutation_p.G39E|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Missense_Mutation_p.G70E|MAPK10_uc003hpo.3_Missense_Mutation_p.G39E|MAPK10_uc003hpp.3_Missense_Mutation_p.G39E NM_138982 NP_620446 P53779 MK10_HUMAN Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA. 184 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK 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|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) GTGAATAATTCCAGCAGAATG 0.403000 20 17 0 0 0.000958276 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672495 108672495 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:108672495C>T uc003dxj.2 - 0 183 c.115G>A c.(115-117)Gaa>Aaa p.E39K GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 39 EF-hand 1. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 GTCTTAAATTCATGTAGTGTT 0.388000 60 46 0 0 0.000781405 0 0 NCSTN 23385 broad.mit.edu 37 1 160326137 160326137 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:160326137G>A uc001fvx.3 + 14 1763 c.1639_splice c.e14+1 p.G547_splice NCSTN_uc001fvy.3_Splice_Site_p.G527_splice|NCSTN_uc010pjf.2_Splice_Site_p.G409_splice|NCSTN_uc010pjg.2_Splice_Site_p.G289_splice NM_015331 NP_056146 Q92542 NICA_HUMAN Homo sapiens nicastrin (NCSTN), mRNA. 547 Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTCCTACTTGGGTAAGCATCT 0.443000 55 30 0 0 0.000491102 0 0 C1orf158 93190 broad.mit.edu 37 1 12806420 12806420 + Silent SNP G A A rs3192728 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12806420G>A uc001auh.3 + 0 258 c.42G>A c.(40-42)ccG>ccA p.P14P C1orf158_uc010obe.1_Silent_p.P14P NM_152290 NP_689503 Q8N1D5 CA158_HUMAN Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA. 14 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTACTCCGAGCTGGCAGA 0.478000 35 20 0 0 0.000229342 0 0 PREX2 80243 broad.mit.edu 37 8 68992720 68992720 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:68992720G>T uc003xxv.1 + 15 1712 c.1685G>T c.(1684-1686)cGt>cTt p.R562L PREX2_uc003xxu.1_Missense_Mutation_p.R562L|PREX2_uc011lez.1_Missense_Mutation_p.R497L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCG 0.328000 40 16 1.15919e-05 6.81551e-05 0.00121646 1 0 OLFM3 118427 broad.mit.edu 37 1 102270070 102270070 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:102270070A>G uc001duf.2 - 5 1232 c.1161T>C c.(1159-1161)acT>acC p.T387T OLFM3_uc001dug.2_Silent_p.T367T|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.T292T|OLFM3_uc001due.2_Non-coding_Transcript NM_058170 NP_477518 Q96PB7 NOE3_HUMAN Homo sapiens olfactomedin 3 (OLFM3), mRNA. 387 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGGGGTAGCCAGTGCTCCAGC 0.478000 8 5 0 0 0.00116845 0 0 SYCP1 6847 broad.mit.edu 37 1 115455667 115455667 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:115455667G>A uc001efr.3 + 18 1752 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E515K|SYCP1_uc009wgw.3_Missense_Mutation_p.E515K NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 515 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAAGAATACTGAATTAACTTC 0.299000 34 21 0 0 0.000229342 0 0 CACNA1G 8913 broad.mit.edu 37 17 48674195 48674195 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:48674195G>A uc002irk.1 + 15 3541 c.3169G>A c.(3169-3171)Ggc>Agc p.G1057S CACNA1G_uc002iri.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irj.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irl.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irm.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irn.1_Missense_Mutation_p.G1034S|CACNA1G_uc002iro.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irp.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irq.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irr.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irs.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irt.1_Missense_Mutation_p.G1057S|CACNA1G_uc002iru.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irv.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irw.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irx.1_Missense_Mutation_p.G970S|CACNA1G_uc002iry.1_Missense_Mutation_p.G970S|CACNA1G_uc002isg.1_Missense_Mutation_p.G970S|CACNA1G_uc002ish.1_Missense_Mutation_p.G970S|CACNA1G_uc002isi.1_Missense_Mutation_p.G947S|CACNA1G_uc002irz.1_Missense_Mutation_p.G970S|CACNA1G_uc002isa.1_Missense_Mutation_p.G970S|CACNA1G_uc002isd.1_Missense_Mutation_p.G970S|CACNA1G_uc002isb.1_Missense_Mutation_p.G970S|CACNA1G_uc002isc.1_Missense_Mutation_p.G970S|CACNA1G_uc002ise.1_Missense_Mutation_p.G970S|CACNA1G_uc002isf.1_Missense_Mutation_p.G970S|CACNA1G_uc002isj.3_5'Flank NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1057 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CACCAGCACGGGCCTGGGCGA 0.721000 5 11 0 0 0.000151284 0 0 KIAA1199 57214 broad.mit.edu 37 15 81199035 81199035 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:81199035G>A uc002bfw.1 + 11 1703 c.1443G>A c.(1441-1443)gaG>gaA p.E481E KIAA1199_uc010unn.1_Silent_p.E481E NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 481 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCGGGGAGGAGATAGACGGCG 0.572000 37 31 0 0 0.00128727 0 0 PDZD2 23037 broad.mit.edu 37 5 32061115 32061115 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:32061115G>A uc003jhl.3 + 13 2714 c.2326G>A c.(2326-2328)Gat>Aat p.D776N PDZD2_uc003jhm.3_Missense_Mutation_p.D776N|PDZD2_uc011cnx.1_Missense_Mutation_p.D602N NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 776 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.G775W(1)|p.D776V(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TAGCCGCGGGGATCAAATCCT 0.493000 32 26 0 0 0.001512 0 0 PIP 5304 broad.mit.edu 37 7 142836727 142836727 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142836727G>A uc003wcf.1 + 3 469 c.433G>A c.(433-435)Gta>Ata p.V145I NM_002652 NP_002643 P12273 PIP_HUMAN Homo sapiens prolactin-induced protein (PIP), mRNA. 145 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) AATCCTAAAGGTAGAATAATG 0.408000 83 69 0 0 0.000781405 0 0 CR1L 1379 broad.mit.edu 37 1 207850751 207850751 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:207850751G>A uc001hga.4 + 1 236 c.115G>A c.(115-117)Gaa>Aaa p.E39K CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 39 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAATGTCCCGGAATGGCTTCC 0.398000 70 21 0 0 0.000295444 0 0 FES 2242 broad.mit.edu 37 15 91435974 91435974 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:91435974C>T uc002bpv.3 + 13 1864 c.1745C>T c.(1744-1746)gCc>gTc p.A582V FES_uc010uqj.2_Missense_Mutation_p.A454V|FES_uc010uqk.2_Missense_Mutation_p.A564V|FES_uc002bpx.3_Missense_Mutation_p.A512V|FES_uc002bpy.3_Missense_Mutation_p.A524V|FES_uc010bny.3_Missense_Mutation_p.A454V NM_002005 NP_001996 P07332 FES_HUMAN Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA. 582 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CGCCTGCGAGCCGACAACACC 0.577000 167 99 0 0 0.000781405 0 0 SEZ6 124925 broad.mit.edu 37 17 27308885 27308885 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:27308885G>A uc002hdp.2 - 1 422 c.228C>T c.(226-228)ttC>ttT p.F76F SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.F76F|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Silent_p.F76F NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 76 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCTCTTGTAGGAATTCCTCAA 0.622000 28 23 0 0 0.000295444 0 0 OR51F1 256892 broad.mit.edu 37 11 4790701 4790701 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:4790701C>T uc010qyl.2 - 0 447 c.447G>A c.(445-447)ctG>ctA p.L149L NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA. 149 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GTGTAATCATCAGAAGACCCA 0.428000 4 25 0 0 0.00047179 0 0 RNF180 285671 broad.mit.edu 37 5 63509416 63509416 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:63509416C>T uc003jti.3 + 3 373 c.263C>T c.(262-264)cCt>cTt p.P88L RNF180_uc003jth.4_Missense_Mutation_p.P88L|RNF180_uc010iws.3_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA. 88 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CTGAATTGTCCTTTCTGTGGG 0.423000 71 42 0 0 0.000781405 0 0 ATP8B4 79895 broad.mit.edu 37 15 50189491 50189491 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:50189491G>T uc001zxu.3 - 22 2837 c.2695C>A c.(2695-2697)Cag>Aag p.Q899K ATP8B4_uc010ber.3_Missense_Mutation_p.Q772K|ATP8B4_uc010ufd.2_Missense_Mutation_p.Q709K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.Q197K NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 899 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTACCAACCTGGGCTGAGAAA 0.303000 70 6 0.00116845 0.00683006 0.00116845 1 0 PDPR 55066 broad.mit.edu 37 16 70162962 70162962 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:70162962G>A uc002eyf.1 + 5 1501 c.544G>A c.(544-546)Gag>Aag p.E182K CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.E82K|PDPR_uc002eyg.1_5'Flank NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 182 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GCATGTTCCCGAGGATGCAGT 0.532000 180 92 0 0 0.000781405 0 0 EDAR 10913 broad.mit.edu 37 2 109547439 109547439 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:109547439G>A uc010fjn.3 - 2 579 c.32C>T c.(31-33)cCc>cTc p.P11L EDAR_uc010yws.2_Missense_Mutation_p.P11L|EDAR_uc002teq.4_Missense_Mutation_p.P11L NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 11 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGGGAGCCAGGGCGTCTGCGT 0.612000 47 21 0 0 0.00152264 0 0 SEMG2 6407 broad.mit.edu 37 20 43835771 43835771 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:43835771G>A uc010ggz.3 + 1 133 c.76_splice c.e1+1 p.G26_splice SEMG2_uc002xni.2_Splice_Site_p.G26_splice|SEMG2_uc002xnj.2_Splice_Site_p.G26_splice NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 26 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GGACAAAAAGGTGAGTGGAGA 0.453000 19 11 0 0 0.000978159 0 0 RAB27B 5874 broad.mit.edu 37 18 52556538 52556538 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:52556538G>A uc002lfr.3 + 5 794 c.551G>A c.(550-552)cGa>cAa p.R184Q NM_004163 NP_004154 O00194 RB27B_HUMAN Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA. 184 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.R184Q(2) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) ATCATGAAGCGAATGGAACAG 0.418000 12 7 0 0 0.000157383 0 0 COL4A5 1287 broad.mit.edu 37 X 107834829 107834829 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:107834829G>A uc022ccg.1 + 20 1580 c.1378G>A c.(1378-1380)Gga>Aga p.G460R COL4A5_uc004enz.1_Missense_Mutation_p.G460R|COL4A5_uc004eob.1_Missense_Mutation_p.G68R NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 460 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGCCCCCCAGGATCTCCAGG 0.398000 Alport syndrome with Diffuse Leiomyomatosis 6 42 0 0 0.000781405 0 0 RTKN 6242 broad.mit.edu 37 2 74657620 74657620 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:74657620C>T uc002sle.3 - 3 516 c.399G>A c.(397-399)aaG>aaA p.K133K RTKN_uc002slc.3_Silent_p.K120K|RTKN_uc002sld.3_Silent_p.K83K NM_001015055 NP_001015056 Q9BST9 RTKN_HUMAN Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA. 133 Rho protein signal transduction|apoptosis|regulation of anti-apoptosis intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 ATTCTGTGTCCTTCCACATGA 0.532000 37 27 0 0 0.001512 0 0 NLRC5 84166 broad.mit.edu 37 16 57111870 57111870 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57111870C>T uc021tiu.1 + 41 5146 c.5019C>T c.(5017-5019)gcC>gcT p.A1673A NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Silent_p.A215A|NLRC5_uc002ekr.1_Silent_p.A560A NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1673 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCTGCAATGCCCTGGGGGATC 0.672000 20 16 0 0 0.00074312 0 0 CELF4 56853 broad.mit.edu 37 18 34850794 34850794 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:34850794G>A uc002lae.2 - 7 1432 c.1036C>T c.(1036-1038)Cca>Tca p.P346S CELF4_uc021uix.1_Missense_Mutation_p.P344S|CELF4_uc021uiy.1_Missense_Mutation_p.P345S|CELF4_uc002lag.2_Missense_Mutation_p.P336S|CELF4_uc002laf.2_Missense_Mutation_p.P341S|CELF4_uc002lai.2_Missense_Mutation_p.P331S|CELF4_uc002lah.2_Missense_Mutation_p.P71S NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA. 346 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TTGGCCTGTGGGGGGAGGCCG 0.612000 37 13 0 0 0.000219431 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860833 96860833 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:96860833A>G uc010mrj.2 + 5 2087 c.1985A>G c.(1984-1986)gAa>gGa p.E662G PTPDC1_uc004auf.2_Missense_Mutation_p.E608G|PTPDC1_uc004aug.2_Missense_Mutation_p.E608G|PTPDC1_uc004auh.2_Missense_Mutation_p.E660G|PTPDC1_uc010mri.2_Missense_Mutation_p.E660G NM_001253829 NP_001240758 A2A3K4 PTPC1_HUMAN Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA. 608 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GAAAAGGAGGAACTAAAAAGG 0.363000 10 31 0 0 0.000409698 0 0 TTN 7273 broad.mit.edu 37 2 179426124 179426124 + Silent SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179426124T>C uc021vsy.1 - 274 77256 c.77031A>G c.(77029-77031)gaA>gaG p.E25677E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E19372E|TTN_uc021vta.1_Silent_p.E19305E|TTN_uc021vtb.1_Silent_p.E19180E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26604 Ig-like 125. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E25675E(1)|p.E19372E(1)|p.E19180E(1)|p.E19305E(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGGACTGGTTCACAAGATT 0.403000 33 20 0 0 0.000375601 0 0 DDX55 57696 broad.mit.edu 37 12 124101089 124101090 + Missense_Mutation DNP CG AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:124101089_124101090CG>AT uc001ufi.3 + 9 1012_1013 c.988_989CG>AT c.(988-990)cgg>ATg p.R330M DDX55_uc001ufh.3_Missense_Mutation_p.R183M|DDX55_uc001ufj.1_Missense_Mutation_p.R183M|DDX55_uc001ufk.3_Missense_Mutation_p.R183M|DDX55_uc001ufl.3_5'Flank NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA. 330 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TGTGATGGCCCGGGGAATTGAT 0.475000 152 6 0 0 6.4e-05 0 0 NDST3 9348 broad.mit.edu 37 4 119064801 119064801 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:119064801C>T uc003ibx.3 + 5 1904 c.1501C>T c.(1501-1503)Caa>Taa p.Q501* NDST3_uc011cgf.1_Nonsense_Mutation_p.Q420* NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 501 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TAAGAGTATCCAAGGAGGAGA 0.418000 19 27 0 0 0.00106085 0 0 SP110 3431 broad.mit.edu 37 2 231077610 231077610 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:231077610G>A uc002vqg.3 - 3 689 c.449C>T c.(448-450)tCa>tTa p.S150L SP110_uc002vqh.3_Missense_Mutation_p.S150L|SP110_uc002vqi.4_Missense_Mutation_p.S150L|SP110_uc010fxk.3_Missense_Mutation_p.S150L|SP110_uc021vxx.1_Missense_Mutation_p.S156L NM_080424 NP_536349 Q9HB58 SP110_HUMAN Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA. 150 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CGCACAGGGTGAACAGCTTGG 0.597000 60 45 0 0 0.000781405 0 0 LINS 55180 broad.mit.edu 37 15 101114038 101114038 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:101114038G>A uc002bwg.3 - 4 1263 c.1040C>T c.(1039-1041)tCg>tTg p.S347L LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Missense_Mutation_p.S228L|LINS_uc002bwi.3_Missense_Mutation_p.S347L NM_001040616 NP_001035706 Q8NG48 LINES_HUMAN Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA. 347 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 CAACAACCCCGAATTCACAGC 0.453000 48 35 0 0 0.00170553 0 0 CILP 8483 broad.mit.edu 37 15 65499344 65499344 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:65499344C>T uc002aon.2 - 3 381 c.200G>A c.(199-201)gGg>gAg p.G67E NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 67 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GTCGCCCTTCCCGCCTGGGTA 0.597000 12 11 0 0 0.00136819 0 0 IGSF9 57549 broad.mit.edu 37 1 159901383 159901383 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:159901383C>T uc001fur.2 - 11 1571 c.1373G>A c.(1372-1374)gGg>gAg p.G458E IGSF9_uc001fuq.2_Missense_Mutation_p.G442E|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 458 Ig-like 5. cell junction|integral to membrane|synapse p.R458*(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCTTGCAGCCCCCGGCCCAC 0.647000 18 29 0 0 0.001512 0 0 PNKP 11284 broad.mit.edu 37 19 50368642 50368642 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:50368642C>T uc002pqj.3 - 3 350 c.240G>A c.(238-240)aaG>aaA p.K80K PNKP_uc002pqg.3_5'UTR|PNKP_uc002pqi.3_Silent_p.K41K|PNKP_uc021uxx.1_Silent_p.K80K NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 80 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCAACCCCGGCTTCAACTCCT 0.627000 Other BER factors 7 7 0 0 8.12818e-05 0 0 HP 3240 broad.mit.edu 37 16 72094666 72094666 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:72094666G>A uc002fbr.4 + 6 1142 c.1098G>A c.(1096-1098)gaG>gaA p.E366E TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.E307E|HP_uc021tld.1_Silent_p.E307E|HP_uc002fbt.4_Silent_p.E307E|HPR_uc002fby.3_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN Homo sapiens haptoglobin (HP), transcript variant 1, mRNA. 366 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) ACCTGGAGGAGGACACCTGGT 0.517000 53 26 0 0 0.00106085 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331376 100331376 + RNA SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:100331376G>A uc021sxl.1 - 1 c.1777C>T DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. AATGGCAGAAGAAACTCAACA 0.567000 11 10 0 0 0.000442599 0 0 FGGY 55277 broad.mit.edu 37 1 59922748 59922748 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:59922748G>A uc009wac.3 + 6 882 c.670_splice c.e6+1 p.G224_splice FGGY_uc001czg.2_Splice_Site_p.G112_splice|FGGY_uc001czh.2_Splice_Site|FGGY_uc001czi.4_Splice_Site_p.G224_splice|FGGY_uc001czl.4_Splice_Site_p.G136_splice NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 224 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CAGCAAAATAGGTAAAAGAAT 0.368000 5 11 0 0 0.000978159 0 0 EHD1 10938 broad.mit.edu 37 11 64622919 64622919 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64622919G>A uc010rnq.1 - 4 1044 c.997C>T c.(997-999)Ccc>Tcc p.P333S EHD1_uc021qkz.1_Missense_Mutation_p.P2S|EHD1_uc001obu.1_Missense_Mutation_p.P319S|EHD1_uc001obv.1_Missense_Mutation_p.P319S NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN Homo sapiens EH-domain containing 1 (EHD1), mRNA. 319 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 AAGACATTGGGCATCTCTTTC 0.557000 OREG0004024 type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 59 43 0 0 0.000680045 0 0 SPACA1 81833 broad.mit.edu 37 6 88767377 88767377 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:88767377G>A uc003pmn.3 + 2 430 c.313G>A c.(313-315)Gaa>Aaa p.E105K NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. 105 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) CCCTGGTGGTGAATCCAAGTG 0.393000 7 22 0 0 0.00127121 0 0 HOXB13 10481 broad.mit.edu 37 17 46805734 46805734 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:46805734G>A uc002ioa.3 - 0 378 c.222C>T c.(220-222)tcC>tcT p.S74S NM_006361 NP_006352 Q92826 HXB13_HUMAN Homo sapiens homeobox B13 (HOXB13), mRNA. 74 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S74P(1) endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CGGGAGCTGGGGACGTCCCCT 0.662000 62 24 0 0 0.000586117 0 0 LRG1 116844 broad.mit.edu 37 19 4538831 4538831 + Silent SNP G A A rs138125261 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:4538831G>A uc002mau.3 - 1 176 c.165C>T c.(163-165)tcC>tcT p.S55S PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 55 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTTGACAGGAGATGGAGC 0.632000 46 38 0 0 0.00148497 0 0 GRM7 2917 broad.mit.edu 37 3 7620125 7620125 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:7620125G>A uc003bqm.2 + 7 1806 c.1532G>A c.(1531-1533)tGg>tAg p.W511* GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.W511*|GRM7_uc003bql.2_Nonsense_Mutation_p.W511*|GRM7_uc003bqn.1_Nonsense_Mutation_p.W94*|GRM7_uc010hch.1_Nonsense_Mutation_p.W22* NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 511 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACATGCAGTGGGGTAAAGGA 0.448000 11 4 0 0 0.00024832 0 0 GRIA2 2891 broad.mit.edu 37 4 158282245 158282245 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:158282245G>A uc003ipm.4 + 13 2834 c.2375G>A c.(2374-2376)gGa>gAa p.G792E GRIA2_uc011cit.2_Intron|GRIA2_uc003ipl.4_Intron|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.G102E|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Intron|GRIA2_uc011ciy.1_Intron|GRIA2_uc011ciz.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 792 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TACGACAAAGGAGAGTGCGGC 0.448000 7 4 0 0 0.00024832 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390499 61390499 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:61390499G>A uc002ljk.4 + 8 1213 c.1042G>A c.(1042-1044)Gcc>Acc p.A348T SERPINB11_uc010xes.2_Missense_Mutation_p.A174T|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.A235T|SERPINB11_uc010dqe.3_Missense_Mutation_p.A148T|SERPINB11_uc010dqf.3_Missense_Mutation_p.A147T NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 349 RCL (By similarity). regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GGCAGCAGCAGCCACTGGGGA 0.493000 19 11 0 0 0.000978159 0 0 COL22A1 169044 broad.mit.edu 37 8 139729104 139729104 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:139729104A>G uc003yvd.3 - 27 2811 c.2364T>C c.(2362-2364)atT>atC p.I788I COL22A1_uc011ljo.2_Silent_p.I88I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 788 Collagen-like 6.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGCTCCCCAATTTCTCCCT 0.413000 HNSCC(7;0.00092) 46 20 0 0 0.000720815 0 0 NBPF1 55672 broad.mit.edu 37 1 16892178 16892178 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:16892178G>A uc009vos.1 - 26 3902 c.3014C>T c.(3013-3015)tCc>tTc p.S1005F AB1_uc001ayw.3_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 1005 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGCATAAAAGGAACTTCCATA 0.453000 613 27 0 0 0.000878237 0 0 ESRP2 80004 broad.mit.edu 37 16 68267908 68267909 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:68267908_68267909CC>TT uc010cfa.1 - 2 617_618 c.429_430GG>AA c.(427-432)gaggcc>gaAAcc p.A144T ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Missense_Mutation_p.A144T NM_024939 NP_079215 Q9H6T0 ESRP2_HUMAN Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA. 144 RNA splicing|mRNA processing|regulation of RNA splicing nucleus mRNA binding|nucleotide binding p.E143K(1) NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TTCCTGGAGGCCTCGGGGTGCA 0.624000 10 8 0 0 6.4e-05 0 0 PSG4 5672 broad.mit.edu 37 19 43698546 43698546 + Missense_Mutation SNP G A A rs138668740 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43698546G>A uc002ovy.3 - 4 1291 c.1189C>T c.(1189-1191)Cgt>Tgt p.R397C PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.R304C|PSG4_uc002owb.3_Missense_Mutation_p.R304C NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 397 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GCTGAGTTACGAACAGAGCAA 0.448000 85 81 0 0 0.000781405 0 0 CNTN1 1272 broad.mit.edu 37 12 41318411 41318411 + Silent SNP G C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:41318411G>C uc001rmm.1 + 5 566 c.453G>C c.(451-453)ggG>ggC p.G151G CNTN1_uc009zjy.2_Silent_p.G151G|CNTN1_uc001rmn.1_Silent_p.G140G|CNTN1_uc001rmo.3_Silent_p.G151G NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 151 Ig-like C2-type 2. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TAAAAGAAGGGAAAGGAATGG 0.403000 0 6 0 0 8.12818e-05 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64569274 64569274 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:64569274C>T uc003jtp.3 - 12 2327 c.1513_splice c.e12-1 p.E505_splice ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Intron|ADAMTS6_uc003jtr.1_Splice_Site_p.E126_splice NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 505 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.E505K(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CTACACACTTCCTAGGAAAGA 0.438000 36 26 0 0 0.00047179 0 0 PAPOLG 64895 broad.mit.edu 37 2 61002230 61002230 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:61002230C>T uc002sai.3 + 7 915 c.666C>T c.(664-666)acC>acT p.T222T PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. 222 RNA polyadenylation|mRNA processing|transcription, DNA-dependent nucleus ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) TTAGACTCACCCTAAGAGCTG 0.323000 45 12 0 0 0.000151284 0 0 CATSPER2 117155 broad.mit.edu 37 15 43924973 43924973 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:43924973G>A uc001zsh.3 - 10 1553 c.1338C>T c.(1336-1338)gtC>gtT p.V446V STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.3_Intron|CATSPER2_uc001zsi.3_Silent_p.V444V|CATSPER2_uc001zsj.3_Silent_p.V444V NM_172095 NP_742093 Q96P56 CTSR2_HUMAN Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA. 446 Ser-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) atgtggaggagacacaggagg 0.378000 61 41 0 0 0.00111076 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579685 44579685 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:44579685G>A uc003tlb.3 - 1 367 c.311C>T c.(310-312)tCg>tTg p.S104L NPC1L1_uc011kbw.2_Missense_Mutation_p.S104L|NPC1L1_uc003tlc.3_Missense_Mutation_p.S104L|NPC1L1_uc003tld.3_Missense_Mutation_p.S104L NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 104 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTTGGTGATCGACAGACTCGC 0.587000 22 12 0 0 0.000308642 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433576 69433576 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:69433576C>T uc021xov.1 - 0 670 c.627G>A c.(625-627)atG>atA p.M209I NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 209 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TTATCCTCTCCATGAAAATCA 0.353000 3 33 0 0 0.000409698 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378688 114378688 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:114378688G>A uc003pwg.4 - 1 806 c.774C>T c.(772-774)ctC>ctT p.L258L BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.L258L NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA. 258 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTTCCGTGATGAGGCGATCTC 0.428000 11 25 0 0 0.000586117 0 0 AGFG2 3268 broad.mit.edu 37 7 100162594 100162594 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100162594A>G uc003uvf.3 + 11 1562 c.1426A>G c.(1426-1428)Acc>Gcc p.T476A NM_006076 NP_006067 O95081 AGFG2_HUMAN Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA. 476 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAAACCTCCAACCACCAACCC 0.532000 130 75 0 0 0.000781405 0 0 COL17A1 1308 broad.mit.edu 37 10 105797396 105797396 + Missense_Mutation SNP C T T rs147631156 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105797396C>T uc001kxr.3 - 45 3375 c.3206G>A c.(3205-3207)cGg>cAg p.R1069Q NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 1069 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCTTACTCCGTAAGTAGCT 0.602000 38 38 0 0 0.00148497 0 0 CACNA1E 777 broad.mit.edu 37 1 181750643 181750643 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:181750643C>T uc009wxt.3 + 38 5543 c.5348C>T c.(5347-5349)tCc>tTc p.S1783F CACNA1E_uc001gow.3_Missense_Mutation_p.S1783F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1764F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1783 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGATGTCCCTCCAAAGTGGCA 0.532000 5 7 0 0 0.000442599 0 0 DLGAP5 9787 broad.mit.edu 37 14 55637496 55637496 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:55637496G>A uc001xbs.3 - 10 1528 c.1311C>T c.(1309-1311)ctC>ctT p.L437L DLGAP5_uc001xbt.3_Silent_p.L437L NM_014750 NP_055565 Q15398 DLGP5_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA. 437 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TTTCTGACTGGAGGATATTTC 0.338000 45 35 0 0 0.00058488 0 0 AMOT 154796 broad.mit.edu 37 X 112021840 112021840 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:112021840G>A uc004epr.3 - 10 3228 c.3210C>T c.(3208-3210)atC>atT p.I1070I AMOT_uc004eps.3_Silent_p.I661I NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 1070 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CTTGTCCCAGGATCTGAATGG 0.408000 28 164 0 0 0.000781405 0 0 KIAA1586 57691 broad.mit.edu 37 6 56915604 56915604 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:56915604C>T uc003pdj.3 + 2 308 c.138C>T c.(136-138)atC>atT p.I46I KIAA1586_uc011dxm.2_Intron NM_020931 NP_065982 Q9HCI6 K1586_HUMAN Homo sapiens KIAA1586 (KIAA1586), mRNA. 46 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTGAATACATCGATCTGGTCT 0.348000 102 39 0 0 0.000781405 0 0 FOXN3 1112 broad.mit.edu 37 14 89629234 89629234 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:89629234C>T uc001xxo.4 - 6 1134 c.997G>A c.(997-999)Gag>Aag p.E333K FOXN3_uc001xxn.4_Missense_Mutation_p.E311K|FOXN3_uc010atk.3_Missense_Mutation_p.E311K NM_001085471 NP_001078940 O00409 FOXN3_HUMAN Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA. 333 DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TTGTGATCCTCCTTGGGGTCT 0.627000 16 8 0 0 0.000274275 0 0 TMEM63B 55362 broad.mit.edu 37 6 44102371 44102371 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:44102371G>A uc003owr.3 + 1 114 c.50G>A c.(49-51)aGc>aAc p.S17N TMEM63B_uc003owq.1_Missense_Mutation_p.S17N|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN Homo sapiens transmembrane protein 63B (TMEM63B), mRNA. 17 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTCAACAACAGCAACCCCAAG 0.647000 37 16 0 0 0.00074312 0 0 KIF21B 23046 broad.mit.edu 37 1 200969524 200969524 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:200969524C>T uc001gvs.2 - 10 1996 c.1679G>A c.(1678-1680)aGg>aAg p.R560K KIF21B_uc009wzl.2_Missense_Mutation_p.R560K|KIF21B_uc001gvr.2_Missense_Mutation_p.R560K|KIF21B_uc010ppn.2_Missense_Mutation_p.R560K NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 560 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCACCTCTTCCTCCGCTGCCT 0.662000 105 41 0 0 0.000781405 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119551 17119551 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:17119551C>T uc002zls.1 + 1 c.388C>T TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA. ACTTTATATTCCTTCGGAGTA 0.348000 33 12 0 0 0.000978159 0 0 PHGDH 26227 broad.mit.edu 37 1 120277263 120277264 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:120277263_120277264GG>TT uc001ehz.3 + 5 744_745 c.517_518GG>TT c.(517-519)ggg>TTg p.G173L PHGDH_uc009whl.3_Missense_Mutation_p.G75L|PHGDH_uc009whm.3_Missense_Mutation_p.G71L|PHGDH_uc001eib.3_Missense_Mutation_p.G139L NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 173 L-serine biosynthetic process|brain development NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CCAGACTATAGGGTATGACCCC 0.446000 364 13 0 0 6.4e-05 0 0 SEMA3G 56920 broad.mit.edu 37 3 52472075 52472075 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52472075G>A uc003dea.1 - 13 1650 c.1650C>T c.(1648-1650)taC>taT p.Y550Y NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 550 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGCTGGGGCGGTAGTGGGTAC 0.672000 16 9 0 0 0.000274275 0 0 HELQ 113510 broad.mit.edu 37 4 84369967 84369967 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:84369967A>G uc003hom.3 - 2 1339 c.1160T>C c.(1159-1161)aTt>aCt p.I387T HELQ_uc010ikb.3_Missense_Mutation_p.I387T|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.I281T NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 387 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 ATATGGAAGAATCATTAAAAC 0.353000 Other identified genes with known or suspected DNA repair function 60 36 0 0 0.00148497 0 0 CDH8 1006 broad.mit.edu 37 16 61747832 61747832 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:61747832C>T uc002eog.2 - 9 2522 c.1567G>A c.(1567-1569)Gat>Aat p.D523N NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 523 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTGGGATCATCTTTGTCCATG 0.378000 14 6 0 0 0.00116845 0 0 KLHL13 90293 broad.mit.edu 37 X 117043976 117043976 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:117043976G>A uc011mtp.2 - 5 796 c.663C>T c.(661-663)ttC>ttT p.F221F KLHL13_uc004eqk.3_Silent_p.F167F|KLHL13_uc004eql.3_Silent_p.F218F|KLHL13_uc011mtn.2_Silent_p.F58F|KLHL13_uc011mto.2_Silent_p.F212F|KLHL13_uc011mtq.2_Silent_p.F202F|KLHL13_uc004eqm.3_Silent_p.F176F|KLHL13_uc022cde.1_Silent_p.F202F NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 218 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCTTCAAGACGAAACTGTTAA 0.418000 5 25 0 0 0.00047179 0 0 ADRA1A 148 broad.mit.edu 37 8 26721843 26721843 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:26721843C>T uc003xfc.1 - 0 1080 c.644G>A c.(643-645)aGc>aAc p.S215N ADRA1A_uc010lul.1_Missense_Mutation_p.S215N|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.S215N|ADRA1A_uc010lum.1_Missense_Mutation_p.S215N|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.S215N|ADRA1A_uc003xfh.1_Missense_Mutation_p.S215N|ADRA1A_uc022atd.1_Missense_Mutation_p.S215N NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 215 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GAGGCCCCGGCTCTCCCTCTT 0.637000 12 9 0 0 0.000442599 0 0 HSF5 124535 broad.mit.edu 37 17 56565373 56565373 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:56565373C>T uc002iwi.1 - 0 387 c.263G>A c.(262-264)gGc>gAc p.G88D NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGCGGAAGCCGTAGAGGTT 0.711000 24 30 0 0 0.000491102 0 0 CACNA2D1 781 broad.mit.edu 37 7 81600048 81600048 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:81600048C>T uc003uhr.1 - 26 2403 c.2147G>A c.(2146-2148)gGa>gAa p.G716E CACNA2D1_uc011kgy.1_5'UTR NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 728 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCTTTCACTCCCTTGCTGAA 0.338000 19 13 0 0 0.000566183 0 0 ZNF611 81856 broad.mit.edu 37 19 53208656 53208656 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53208656G>A uc002pzz.3 - 6 1969 c.1652C>T c.(1651-1653)tCc>tTc p.S551F ZNF611_uc010eqc.3_Missense_Mutation_p.S481F|ZNF611_uc010ydo.2_Missense_Mutation_p.S481F|ZNF611_uc010ydp.2_Missense_Mutation_p.S551F|ZNF611_uc010ydq.2_Missense_Mutation_p.S551F|ZNF611_uc010ydr.2_Missense_Mutation_p.S482F|ZNF611_uc002qaa.4_Missense_Mutation_p.S481F|ZNF611_uc021uyy.1_Missense_Mutation_p.S482F NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGCCAGATAGGAATGACACGC 0.403000 109 78 0 0 0.000781405 0 0 RBM12 10137 broad.mit.edu 37 20 34240927 34240927 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:34240927C>T uc021wcr.1 - 0 2318 c.2318G>A c.(2317-2319)gGa>gAa p.G773E CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.G773E|RBM12_uc002xds.3_Missense_Mutation_p.G773E|RBM12_uc002xdr.3_Missense_Mutation_p.G773E|RBM12_uc021wcq.1_Missense_Mutation_p.G773E NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 773 Gly-rich.|Pro-rich. nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TGGTCCACCTCCAAAACCCGG 0.557000 55 33 0 0 0.000692331 0 0 F2RL2 2151 broad.mit.edu 37 5 75913832 75913832 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:75913832C>T uc003kem.3 - 1 885 c.700G>A c.(700-702)Gaa>Aaa p.E234K IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E212K NM_004101 NP_004092 O00254 PAR3_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA. 234 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AGATAATATTCCTGCTTCAGT 0.473000 8 11 0 0 0.000978159 0 0 DDX60 55601 broad.mit.edu 37 4 169204758 169204758 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:169204758C>T uc003irp.3 - 13 1854 c.1562_splice c.e13-1 p.E521_splice NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 521 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTAGATTTTTCTGAAAAAGAA 0.308000 21 4 0 0 0.00024832 0 0 VCAN 1462 broad.mit.edu 37 5 82816935 82816935 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:82816935T>A uc003kii.3 + 6 3166 c.2810T>A c.(2809-2811)gTa>gAa p.V937E VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.V937E|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 937 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTAAGCCAGTATCTACTGTT 0.438000 38 31 0 0 0.000692331 0 0 CACNA1S 779 broad.mit.edu 37 1 201047096 201047096 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:201047096C>T uc001gvv.3 - 10 1757 c.1530G>A c.(1528-1530)gaG>gaA p.E510E NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 510 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCAGCAGGATCTCCAGGATAC 0.582000 32 36 0 0 0.000680045 0 0 BCCIP 56647 broad.mit.edu 37 10 127520013 127520013 + Nonsense_Mutation SNP C T T rs141189146 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:127520013C>T uc001ljd.4 + 4 459 c.436C>T c.(436-438)Caa>Taa p.Q146* BCCIP_uc021qar.1_Nonsense_Mutation_p.Q146*|BCCIP_uc001ljb.4_Nonsense_Mutation_p.Q146*|BCCIP_uc001ljc.4_Nonsense_Mutation_p.Q146*|BCCIP_uc010quj.2_Nonsense_Mutation_p.Q116* NM_016567 NP_057651 Q9P287 BCCIP_HUMAN Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA. 146 Interaction with BRCA2. DNA repair|cell cycle|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGAACAAATTCAAGAGTTGGT 0.423000 38 26 0 0 0.001512 0 0 HSPG2 3339 broad.mit.edu 37 1 22156080 22156080 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22156080G>A uc009vqd.3 - 86 11831 c.11791C>T c.(11791-11793)Ccc>Tcc p.P3931S HSPG2_uc001bfi.3_5'UTR|HSPG2_uc001bfj.3_Missense_Mutation_p.P3930S NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 3930 Laminin G-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GACAGCGAGGGGGTGGTCACT 0.657000 18 8 0 0 0.000274275 0 0 AHR 196 broad.mit.edu 37 7 17382555 17382555 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:17382555G>A uc011jxz.1 + 10 3027 c.2414G>A c.(2413-2415)gGa>gAa p.G805E NM_001621 NP_001612 P35869 AHR_HUMAN Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. 805 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTTCAGAATGGAGTTTTAAAT 0.328000 40 21 0 0 0.000229342 0 0 BRIP1 83990 broad.mit.edu 37 17 59761105 59761105 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:59761105G>A uc002izk.2 - 19 3608 c.3302C>T c.(3301-3303)cCa>cTa p.P1101L NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. 1101 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TTCAATGTCTGGATCCAGGGC 0.358000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 104 50 0 0 0.000781405 0 0 RNF213 57674 broad.mit.edu 37 17 78272221 78272221 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:78272221G>T uc002jyh.2 + 11 2403 c.2260G>T c.(2260-2262)Gcc>Tcc p.A754S RNF213_uc002jyf.3_Missense_Mutation_p.A705S|RNF213_uc021uen.1_Missense_Mutation_p.A705S|RNF213_uc002jyg.1_Missense_Mutation_p.A436S NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 705 p.V754F(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TATGGAGCTGGCCCCGCGGCA 0.612000 28 25 4.26978e-12 2.54198e-11 0.00047179 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20858948 20858948 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:20858948G>A uc010sii.2 + 4 692 c.337G>A c.(337-339)Gga>Aga p.G113R SLCO1C1_uc010sij.2_Missense_Mutation_p.G113R|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Missense_Mutation_p.G113R|SLCO1C1_uc010sik.2_5'UTR NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 113 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AAAAATAATTGGAGCAGGGTG 0.383000 28 123 0 0 0.000781405 0 0 C6orf165 154313 broad.mit.edu 37 6 88173907 88173907 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:88173907G>A uc003plv.3 + 12 1931 c.1808G>A c.(1807-1809)gGa>gAa p.G603E SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.G415E|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 603 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CTTCGTGGAGGAAAGAGCGAA 0.468000 2 13 0 0 0.000422831 0 0 OR14I1 401994 broad.mit.edu 37 1 248845270 248845270 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248845270G>A uc001ieu.1 - 0 336 c.336C>T c.(334-336)ttC>ttT p.F112F NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA. 112 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 TGACAGTAAGGAAGGCCAGCT 0.507000 20 24 0 0 0.000375601 0 0 LPHN2 23266 broad.mit.edu 37 1 82431791 82431791 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:82431791A>T uc001dit.4 + 10 2197 c.2016A>T c.(2014-2016)aaA>aaT p.K672N LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.K672N|LPHN2_uc001div.3_Missense_Mutation_p.K672N|LPHN2_uc009wcd.3_Missense_Mutation_p.K672N|LPHN2_uc001diw.3_Missense_Mutation_p.K256N NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 685 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAGACTTTAAATTTCCTCTGG 0.438000 34 22 0 0 0.00152264 0 0 IFT172 26160 broad.mit.edu 37 2 27700945 27700945 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27700945T>C uc002rku.3 - 10 1135 c.1084A>G c.(1084-1086)Atc>Gtc p.I362V IFT172_uc002rkv.3_Missense_Mutation_p.I336V|IFT172_uc010yls.2_Missense_Mutation_p.I341V|IFT172_uc010ezc.3_Missense_Mutation_p.I362V NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 362 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTTCCTAGGATTTTCACCTCT 0.478000 78 67 0 0 0.000781405 0 0 COL4A4 1286 broad.mit.edu 37 2 227942694 227942694 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:227942694G>A uc021vxr.1 - 23 2004 c.1903C>T c.(1903-1905)Cct>Tct p.P635S COL4A4_uc021vxs.1_Missense_Mutation_p.P635S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 635 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGTGGACCAGGAAATCCCAGT 0.587000 21 20 0 0 0.00121646 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41000823 41000823 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:41000823G>A uc003jmj.4 - 37 4797 c.4307C>T c.(4306-4308)tCa>tTa p.S1436L HEATR7B2_uc003jmi.4_Missense_Mutation_p.S991L NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1436 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CAGAAGGAATGAAATCAGGCT 0.473000 9 5 0 0 0.00116845 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140216071 140216071 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140216071C>T uc003lhq.2 + 0 2103 c.2103C>T c.(2101-2103)atC>atT p.I701I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.I701I NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 709 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACCTGATCATCGCCATCT 0.627000 39 38 0 0 0.000781405 0 0 MGAM 8972 broad.mit.edu 37 7 141765211 141765211 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:141765211G>A uc003vwy.3 + 37 4615 c.4561G>A c.(4561-4563)Gga>Aga p.G1521R NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1521 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCGCTGGGCAGGACATTGGCT 0.622000 2 4 0 0 0.00116845 0 0 GGA1 26088 broad.mit.edu 37 22 38028055 38028055 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38028055C>T uc003atc.3 + 14 1968 c.1581C>T c.(1579-1581)ttC>ttT p.F527F GGA1_uc003ate.3_Silent_p.F523F|GGA1_uc003atd.3_Silent_p.F440F|GGA1_uc003atf.3_Silent_p.F454F|SH3BP1_uc003atg.1_5'Flank NM_013365 NP_001166159 Q9UJY5 GGA1_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA. 527 GAE. intracellular protein transport|vesicle-mediated transport Golgi apparatus part|clathrin adaptor complex|endosome membrane protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GCATCCTCTTCCATTTTGCCC 0.632000 24 19 0 0 0.000958276 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180868 43180868 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:43180868G>A uc001uyu.2 + 4 917 c.768G>A c.(766-768)atG>atA p.M256I TNFSF11_uc001uyt.2_Missense_Mutation_p.M183I NM_003701 NP_143026 O14788 TNF11_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA. 256 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) ATACCCTGATGAAAGGAGGAA 0.398000 48 28 0 0 0.00127121 0 0 OR8I2 120586 broad.mit.edu 37 11 55861530 55861530 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55861530C>T uc010rix.2 + 0 747 c.747C>T c.(745-747)atC>atT p.I249I NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CTGTAACTATCTTTTATGGGT 0.488000 17 5 0 0 0.00116845 0 0 MUC4 4585 broad.mit.edu 37 3 195515738 195515738 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:195515738A>G uc021xjp.1 - 1 2869 c.2713T>C c.(2713-2715)Tcc>Ccc p.S905P MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S787P NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 910 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCCATCCGGGAAATGGCGGCT 0.602000 19 14 0 0 0.00074312 0 0 FBF1 85302 broad.mit.edu 37 17 73906868 73906868 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73906868T>C uc002jqc.3 - 28 3612 c.3338A>G c.(3337-3339)aAt>aGt p.N1113S FBF1_uc002jqa.1_Intron|FBF1_uc010wsp.2_Missense_Mutation_p.N1104S|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Missense_Mutation_p.N423S NM_001080542 NP_001074011 A6NLR5 A6NLR5_HUMAN Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA. 1113 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GAACTGTTCATTCTCCAAGAA 0.572000 8 13 0 0 0.000219431 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108582 75108582 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:75108582C>T uc002ayt.1 + 1 262 c.260C>T c.(259-261)cCc>cTc p.P87L LMAN1L_uc010bkd.2_Missense_Mutation_p.P15L|LMAN1L_uc010ulo.1_Missense_Mutation_p.P15L|LMAN1L_uc010bke.1_Missense_Mutation_p.P87L NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 87 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCTCTGTCCCCTTCTCTGCC 0.662000 8 4 0 0 0.00024832 0 0 COL4A6 1288 broad.mit.edu 37 X 107437780 107437780 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:107437780C>T uc004enw.4 - 15 1092 c.989G>A c.(988-990)gGa>gAa p.G330E COL4A6_uc004env.4_Missense_Mutation_p.G329E|COL4A6_uc011msn.2_Missense_Mutation_p.G329E|COL4A6_uc010npk.3_Missense_Mutation_p.G329E NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 330 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTTGGAATCCATTAAGCCC 0.403000 Alport syndrome with Diffuse Leiomyomatosis 19 82 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41465660 41465660 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41465660G>A uc002yyq.1 - 20 4290 c.3838C>T c.(3838-3840)Cca>Tca p.P1280S 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. 1280 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) TTTGCTAGTGGCTCGACTGTG 0.443000 8 5 0 0 0.00116845 0 0 LRFN2 57497 broad.mit.edu 37 6 40360141 40360141 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:40360141C>T uc003oph.1 - 2 2376 c.1911G>A c.(1909-1911)cgG>cgA p.R637R NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 637 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCCAGGGGGCCCGTCCCAGCC 0.706000 2 6 0 0 0.00116845 0 0 OR5T1 390155 broad.mit.edu 37 11 56043769 56043769 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56043769G>A uc001nio.1 + 0 655 c.655G>A c.(655-657)Gag>Aag p.E219K NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGGCTCTATTGAGATAGTCAC 0.413000 52 31 0 0 0.000339439 0 0 IL2 3558 broad.mit.edu 37 4 123372940 123372940 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:123372940G>A uc003ier.3 - 3 484 c.429C>T c.(427-429)acC>acT p.T143T NM_000586 NP_000577 P60568 IL2_HUMAN Homo sapiens interleukin 2 (IL2), mRNA. 143 T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) TTTGACAAAAGGTAATCCATC 0.294000 T TNFRSF17 intestinal T-cell lymphoma 20 16 0 0 0.000295444 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179303026 179303026 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:179303026G>A uc003mlh.3 - 10 1829 c.1794C>T c.(1792-1794)atC>atT p.I598I TBC1D9B_uc003mli.3_Silent_p.I598I|TBC1D9B_uc003mlj.3_Silent_p.I598I NM_198868 NP_942568 Q66K14 TBC9B_HUMAN Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA. 598 Rab-GAP TBC. integral to membrane|intracellular Rab GTPase activator activity|calcium ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGGTCACGATGTTCATTG 0.632000 12 5 0 0 0.000602214 0 0 CPXM2 119587 broad.mit.edu 37 10 125639769 125639769 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:125639769C>T uc001lhk.1 - 1 686 c.361G>A c.(361-363)Gat>Aat p.D121N CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 121 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CTGTGATCATCGTTGGCAGCC 0.507000 99 69 0 0 0.000781405 0 0 RECQL4 9401 broad.mit.edu 37 8 145737578 145737578 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:145737578C>T uc003zdj.3 - 18 3227 c.3185G>A c.(3184-3186)cGg>cAg p.R1062Q NM_004260 NP_004251 O94761 RECQ4_HUMAN Homo sapiens RecQ protein-like 4 (RECQL4), mRNA. 1062 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGGCGCTCCCGGGCCTGCAC 0.662000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 14 4 0 0 0.00024832 0 0 RP1L1 94137 broad.mit.edu 37 8 10466594 10466595 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:10466594_10466595GG>AA uc003wtc.3 - 3 5242_5243 c.5013_5014CC>TT c.(5011-5016)tccccc>tcTTcc p.P1672S NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1672 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTGGCCTTGGGGGACATAGGGC 0.629000 39 23 0 0 6.4e-05 0 0 CATSPERG 57828 broad.mit.edu 37 19 38850215 38850215 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38850215G>A uc002oih.4 + 13 1689 c.1602G>A c.(1600-1602)acG>acA p.T534T CATSPERG_uc002oig.4_Silent_p.T494T|CATSPERG_uc002oif.4_Silent_p.T174T|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 534 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TCACAGAGACGGAGGAGGTGG 0.597000 17 12 0 0 0.000978159 0 0 DYSF 8291 broad.mit.edu 37 2 71780979 71780979 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:71780979T>G uc010fen.3 + 20 2168 c.2027T>G c.(2026-2028)gTg>gGg p.V676G DYSF_uc010fei.3_Missense_Mutation_p.V675G|DYSF_uc010feh.3_Missense_Mutation_p.V644G|DYSF_uc002sig.4_Missense_Mutation_p.V644G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.V689G|DYSF_uc010fee.3_Missense_Mutation_p.V658G|DYSF_uc010fef.3_Missense_Mutation_p.V675G|DYSF_uc002sie.3_Missense_Mutation_p.V658G|DYSF_uc010feo.3_Missense_Mutation_p.V690G|DYSF_uc010fej.3_Missense_Mutation_p.V645G|DYSF_uc010fel.3_Missense_Mutation_p.V645G|DYSF_uc010fem.3_Missense_Mutation_p.V659G|DYSF_uc002sif.3_Missense_Mutation_p.V659G|DYSF_uc010fek.3_Missense_Mutation_p.V676G NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 658 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GTGAAACCTGTGGTGGTGCTG 0.587000 12 16 0 0 0.000422831 0 0 MYO3A 53904 broad.mit.edu 37 10 26463421 26463421 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:26463421G>A uc001isn.2 + 29 4588 c.4228G>A c.(4228-4230)Gat>Aat p.D1410N MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1410 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAGAAGAAGGATAACAAAGA 0.323000 66 36 0 0 0.00111076 0 0 DYTN 391475 broad.mit.edu 37 2 207564565 207564565 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:207564565G>A uc002vbr.1 - 6 722 c.605C>T c.(604-606)tCt>tTt p.S202F NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 202 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GGGAGGCTCAGATTGGACCCA 0.502000 16 12 0 0 0.00136819 0 0 LAMA1 284217 broad.mit.edu 37 18 7013954 7013954 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:7013954C>T uc002knm.3 - 22 3317 c.3223G>A c.(3223-3225)Gat>Aat p.D1075N LAMA1_uc010wzj.2_Missense_Mutation_p.D551N NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1075 Laminin EGF-like 12. D -> V (in Ref. 3; CAA41418). axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACACTGATCGCAGGCCCGG 0.592000 6 6 0 0 0.00116845 0 0 STARD13 90627 broad.mit.edu 37 13 33703582 33703582 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:33703582G>A uc001uuw.3 - 4 1358 c.1232C>T c.(1231-1233)tCt>tTt p.S411F STARD13_uc001uuu.3_Missense_Mutation_p.S403F|STARD13_uc001uuv.3_Missense_Mutation_p.S293F|STARD13_uc001uux.3_Missense_Mutation_p.S376F|STARD13_uc010abh.1_Missense_Mutation_p.S396F|STARD13_uc021rhz.1_Missense_Mutation_p.S403F|STARD13_uc021ria.1_Missense_Mutation_p.S293F NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 411 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCTTTCAATAGAAAGTGCCTT 0.527000 27 22 0 0 0.000229342 0 0 ZNF202 7753 broad.mit.edu 37 11 123601466 123601466 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:123601466G>A uc001pzd.1 - 3 531 c.131C>T c.(130-132)aCc>aTc p.T44I ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.T44I|ZNF202_uc001pzf.1_Missense_Mutation_p.T44I NM_003455 NP_003446 O95125 ZN202_HUMAN Homo sapiens zinc finger protein 202 (ZNF202), mRNA. 44 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 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;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CTGGTGGGAGGTTTCCAGCAC 0.532000 12 25 0 0 0.000586117 0 0 HMX2 3167 broad.mit.edu 37 10 124909315 124909315 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:124909315C>T uc001lhc.1 + 1 755 c.498C>T c.(496-498)tcC>tcT p.S166S NM_005519 NP_005510 A2RU54 HMX2_HUMAN Homo sapiens H6 family homeobox 2 (HMX2), mRNA. 166 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E165*(1) endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) AGCTCGAGTCCACCTTCGACA 0.677000 16 10 0 0 0.000673444 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661407 176661407 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:176661407C>T uc001gkz.3 + 5 3741 c.2577C>T c.(2575-2577)tcC>tcT p.S859S PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 859 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAACAAGTCCCTCACTATCC 0.507000 86 21 0 0 0.000720815 0 0 SLIT2 9353 broad.mit.edu 37 4 20512168 20512168 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:20512168C>T uc003gpr.1 + 9 1169 c.965C>T c.(964-966)cCa>cTa p.P322L SLIT2_uc003gps.1_Missense_Mutation_p.P322L NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 322 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCTTTCTCACCATATAAAAAG 0.328000 83 69 0 0 0.000781405 0 0 TMEM66 51669 broad.mit.edu 37 8 29931525 29931525 + Silent SNP G A A rs80342246 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:29931525G>A uc003xhs.3 - 1 334 c.150C>T c.(148-150)gaC>gaT p.D50D MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Intron NM_016127 NP_057211 Q96BY9 TMM66_HUMAN Homo sapiens transmembrane protein 66 (TMEM66), mRNA. 50 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) TGGTATAGCGGTCATAGTGGA 0.468000 56 30 0 0 0.001512 0 0 ZNF563 147837 broad.mit.edu 37 19 12429625 12429625 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:12429625G>A uc002mtp.3 - 3 1452 c.1214C>T c.(1213-1215)cCt>cTt p.P405L NM_145276 NP_660319 Q8TA94 ZN563_HUMAN Homo sapiens zinc finger protein 563 (ZNF563), mRNA. 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACATACACTAGGATAAACAAA 0.413000 76 67 0 0 0.000781405 0 0 ITGAL 3683 broad.mit.edu 37 16 30507449 30507449 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:30507449G>A uc002dyi.4 + 13 1711 c.1535G>A c.(1534-1536)gGg>gAg p.G512E ITGAL_uc002dyj.4_Missense_Mutation_p.G429E|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 512 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity p.Q511*(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GAGCTGCAGGGGGACCCCGGC 0.577000 69 40 0 0 0.00170553 0 0 FGA 2243 broad.mit.edu 37 4 155507586 155507586 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:155507586C>T uc003iod.1 - 4 1053 c.995G>A c.(994-996)gGa>gAa p.G332E FGA_uc003ioe.1_Missense_Mutation_p.G332E|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 332 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.T331A(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTTCCAGCTTCCAGTACTTCC 0.567000 20 10 0 0 0.000151284 0 0 CWH43 80157 broad.mit.edu 37 4 49040062 49040062 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:49040062C>T uc003gyv.3 + 12 1850 c.1668C>T c.(1666-1668)ctC>ctT p.L556L CWH43_uc011bzl.2_Silent_p.L529L NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 556 GPI anchor biosynthetic process integral to membrane p.L556I(2) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GAGATGACCTCGACAGGAAAC 0.363000 38 23 0 0 0.000586117 0 0 SEMA3F 6405 broad.mit.edu 37 3 50220638 50220638 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:50220638G>A uc003cyj.3 + 10 1236 c.1038G>A c.(1036-1038)caG>caA p.Q346Q SEMA3F_uc003cyk.3_Silent_p.Q315Q NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 346 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TTGTCCAGCAGACCCAGGACG 0.662000 23 24 0 0 0.000878237 0 0 ZNF81 347344 broad.mit.edu 37 X 47776023 47776023 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:47776023C>T uc022bvq.1 + 4 2227 c.1978C>T c.(1978-1980)Cat>Tat p.H660Y ZNF81_uc010nhy.2_Missense_Mutation_p.H660Y NM_007137 NP_009068 P51508 ZNF81_HUMAN Homo sapiens zinc finger protein 81 (ZNF81), mRNA. 660 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) TCGCAATATTCATACATGAAA 0.363000 1 5 0 0 0.00116845 0 0 FBXO40 51725 broad.mit.edu 37 3 121342150 121342150 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:121342150G>A uc003eeg.2 + 2 2084 c.1874G>A c.(1873-1875)aGg>aAg p.R625K NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 625 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AAGAAAAAGAGGTATTCCCAT 0.428000 49 29 0 0 0.001512 0 0 CYP3A43 64816 broad.mit.edu 37 7 99457461 99457461 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:99457461G>A uc003ury.1 + 9 977 c.874G>A c.(874-876)Gat>Aat p.D292N CYP3A43_uc003urx.1_Missense_Mutation_p.D292N|CYP3A43_uc003urz.1_Missense_Mutation_p.D292N|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.D182N|CYP3A43_uc003usb.1_Missense_Mutation_p.D152N NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 292 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AGCTCTGTCTGATCTGGAGCT 0.433000 69 62 0 0 0.000781405 0 0 abParts 0 broad.mit.edu 37 2 90458637 90458637 + RNA SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:90458637A>G uc010yts.2 + 42 c.5827A>G Parts of antibodies, mostly variable regions. AGATTTTGCAACTTATTACTG 0.512000 478 8 0 0 0.00152264 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291569 141291569 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:141291569C>T uc022cfj.1 - 0 205 c.205G>A c.(205-207)Gag>Aag p.E69K MAGEC2_uc004fbu.2_Missense_Mutation_p.E69K NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 69 Poly-Glu. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GGCACCTCCTCCTCCTCAGGA 0.537000 HNSCC(46;0.14) 1 27 0 0 0.000586117 0 0 PAMR1 25891 broad.mit.edu 37 11 35457605 35457605 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:35457605G>A uc001mwf.3 - 9 1273 c.1230C>T c.(1228-1230)gcC>gcT p.A410A PAMR1_uc001mwg.3_Silent_p.A393A|PAMR1_uc010rew.2_Silent_p.A282A|PAMR1_uc010rex.2_Silent_p.A353A NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 393 Sushi 2. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CAAAGGGAAGGGCTGGCTTCT 0.572000 15 111 0 0 0.000781405 0 0 PSMA8 143471 broad.mit.edu 37 18 23731865 23731865 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:23731865G>A uc002kvq.3 + 2 405 c.291G>A c.(289-291)gtG>gtA p.V97V PSMA8_uc002kvo.3_Silent_p.V53V|PSMA8_uc002kvp.3_Silent_p.V91V|PSMA8_uc002kvr.3_Silent_p.V65V NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA. 97 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity p.R96S(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GAGCCCGTGTGGAGTGCCAGA 0.368000 22 16 0 0 0.000308642 0 0 HSPG2 3339 broad.mit.edu 37 1 22169905 22169905 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22169905G>A uc009vqd.3 - 65 8686 c.8646C>T c.(8644-8646)aaC>aaT p.N2882N HSPG2_uc001bfj.3_Silent_p.N2881N NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2881 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGACACCTGGTTCAGCCTCA 0.652000 12 11 0 0 0.00136819 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T C C rs148060711 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:14414844T>C uc002yiy.3 + 1 c.281T>C ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. ACTGGGCCTGTGCCAATGGCC 0.433000 39 4 0 0 0.000602214 0 0 GPM6A 2823 broad.mit.edu 37 4 176572994 176572994 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:176572994G>A uc003iuf.3 - 3 1336 c.532C>T c.(532-534)Cgt>Tgt p.R178C GPM6A_uc011ckj.2_Missense_Mutation_p.R171C|GPM6A_uc003iug.3_Missense_Mutation_p.R178C|GPM6A_uc003iuh.3_Missense_Mutation_p.R167C NM_201591 NP_963885 P51674 GPM6A_HUMAN Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA. 178 cell surface|integral to membrane p.R178C(2)|p.L177F(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CCAAACTGACGAAGGTCCAAG 0.433000 30 25 0 0 0.00178596 0 0 SCN2B 6327 broad.mit.edu 37 11 118039345 118039345 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:118039345G>A uc001psf.2 - 1 383 c.192C>T c.(190-192)tcC>tcT p.S64S NM_004588 NP_004579 O60939 SCN2B_HUMAN Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA. 64 Ig-like C2-type. synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) TCCAGTTCAGGGAGAACTGTT 0.587000 30 67 0 0 0.000781405 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070139 141070139 + Missense_Mutation SNP C T T rs143443709 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:141070139C>T uc010ncq.3 + 3 1219 c.379C>T c.(379-381)Ctc>Ttc p.L127F Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA. p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 23 4 0 0 0.00116845 0 0 GRM4 2914 broad.mit.edu 37 6 34003584 34003584 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:34003584G>A uc003oir.4 - 7 2666 c.2303C>T c.(2302-2304)aCc>aTc p.T768I GRM4_uc011dsn.2_Missense_Mutation_p.T721I|GRM4_uc010jvh.3_Missense_Mutation_p.T768I|GRM4_uc010jvi.3_Missense_Mutation_p.T460I|GRM4_uc003oio.3_Missense_Mutation_p.T460I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.T628I|GRM4_uc003oiq.3_Missense_Mutation_p.T635I|GRM4_uc011dsm.2_Missense_Mutation_p.T599I NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 768 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGCATACACGGTGCACGTGAC 0.602000 29 12 0 0 0.00136819 0 0 SVEP1 79987 broad.mit.edu 37 9 113173450 113173450 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:113173450C>T uc010mtz.3 - 36 6878 c.6541G>A c.(6541-6543)Gaa>Aaa p.E2181K SVEP1_uc010mty.3_Missense_Mutation_p.E107K NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2181 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCTTCTTTTCCCCTTTGATG 0.507000 5 14 0 0 0.000308642 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768519 13768519 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:13768519T>C uc001rbt.2 - 5 1587 c.1408A>G c.(1408-1410)Aaa>Gaa p.K470E NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 470 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCACAGATTTAGAAATTTTC 0.398000 27 145 0 0 0.000781405 0 0 UNC13C 440279 broad.mit.edu 37 15 54860061 54860061 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:54860061C>T uc021smr.1 + 27 6016 c.6016C>T c.(6016-6018)Cag>Tag p.Q2006* UNC13C_uc021sms.1_Nonsense_Mutation_p.Q2008* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 2008 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CCCAGATCTTCAGTCTCTGAG 0.373000 2 5 0 0 0.000602214 0 0 NBEAL1 65065 broad.mit.edu 37 2 204073993 204073994 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:204073993_204073994GG>TT uc002uzt.3 + 51 7979_7980 c.7646_7647GG>TT c.(7645-7647)tgg>tTT p.W2549F NBEAL1_uc021vvj.1_Missense_Mutation_p.W1183F|NBEAL1_uc002uzu.3_Missense_Mutation_p.W44F NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2549 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCTATATCTTGGGAAGGACATA 0.411000 587 17 0 0 6.4e-05 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103567 2103567 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:2103567C>T uc001aiq.3 + 11 1296 c.1135C>T c.(1135-1137)Ctg>Ttg p.L379L PRKCZ_uc001air.3_Silent_p.L196L|PRKCZ_uc010nyw.2_Silent_p.L275L|PRKCZ_uc001ais.3_Silent_p.L196L|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Silent_p.L227L NM_002744 NP_001028754 Q05513 KPCZ_HUMAN Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA. 379 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GGACCTGAAGCTGGACAACGT 0.627000 18 12 0 0 0.000978159 0 0 LCT 3938 broad.mit.edu 37 2 136566649 136566649 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:136566649G>A uc002tuu.1 - 7 3279 c.3268C>T c.(3268-3270)Cca>Tca p.P1090S NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 1090 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCCTATATGGTGCCCAGCCT 0.532000 24 20 0 0 0.00152264 0 0 SZT2 23334 broad.mit.edu 37 1 43896717 43896717 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:43896717C>T uc001cjk.2 + 31 4785 c.2175C>T c.(2173-2175)ccC>ccT p.P725P NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 1624 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGACTTTGCCCCTGGAAGTGG 0.617000 35 25 0 0 0.000586117 0 0 MTMR6 9107 broad.mit.edu 37 13 25826045 25826045 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:25826045G>A uc001uqf.4 - 11 1743 c.1424C>T c.(1423-1425)tCc>tTc p.S475F MTMR6_uc001uqe.1_Missense_Mutation_p.S475F NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN Homo sapiens myotubularin related protein 6 (MTMR6), mRNA. 475 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.S475F(2) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTGAGATTCGGAACTGTAGAG 0.328000 121 107 0 0 0.000781405 0 0 HEATR2 54919 broad.mit.edu 37 7 780536 780537 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:780536_780537CC>TT uc010krz.1 + 2 881_882 c.861_862CC>TT c.(859-864)atccct>atTTct p.P288S HEATR2_uc003siz.2_Missense_Mutation_p.P156S NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 288 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) ACAAGCTCATCCCTCTGCTGCT 0.639000 68 53 0 0 6.4e-05 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125367393 125367393 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:125367393C>T uc010flu.3 + 11 2136 c.1772C>T c.(1771-1773)tCc>tTc p.S591F CNTNAP5_uc002tno.3_Missense_Mutation_p.S590F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 590 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TACGAGCAATCCTGCGAGGTG 0.507000 21 21 0 0 0.00047179 0 0 ZNF135 7694 broad.mit.edu 37 19 58574891 58574891 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58574891C>T uc002qrg.3 + 2 277 c.274C>T c.(274-276)Ccc>Tcc p.P92S ZNF135_uc021vct.1_Missense_Mutation_p.P92S|ZNF135_uc002qre.3_Missense_Mutation_p.P80S|ZNF135_uc002qrf.3_Missense_Mutation_p.P38S|ZNF135_uc010yhq.2_Missense_Mutation_p.P80S|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.P92S|ZNF135_uc021vcu.1_Missense_Mutation_p.P92S NM_007134 NP_009065 B4DHH9 B4DHH9_HUMAN Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA. 80 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GTCTAGACTTCCCCAAGGCGT 0.567000 25 19 0 0 0.000958276 0 0 PRDM14 63978 broad.mit.edu 37 8 70981495 70981495 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:70981495C>A uc003xym.3 - 1 803 c.601G>T c.(601-603)Gac>Tac p.D201Y NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E200Q(1) NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AAGTGCAGGTCCTCCTCCGTG 0.602000 29 32 4.31634e-10 2.56213e-09 0.000409698 1 0 KDM6B 23135 broad.mit.edu 37 17 7752206 7752206 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7752206C>T uc002gix.3 + 0 1343 c.506C>T c.(505-507)tCg>tTg p.S169L KDM6B_uc002giw.1_Missense_Mutation_p.S867L NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 867 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 TCTGCTTCCTCGTCATCTCAG 0.716000 15 9 0 0 0.000274275 0 0 MAP1B 4131 broad.mit.edu 37 5 71493252 71493252 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:71493252C>T uc003kbw.4 + 4 4311 c.4070C>T c.(4069-4071)cCa>cTa p.P1357L MAP1B_uc010iyw.1_Missense_Mutation_p.P1374L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1231L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1231L NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 1357 microtubule|microtubule associated complex structural molecule activity p.P1357T(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAAAAACCACCAGCAGTTCCA 0.483000 39 28 0 0 0.001512 0 0 LIPC 3990 broad.mit.edu 37 15 58855876 58855876 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:58855876C>T uc010bga.2 + 9 1950 c.1342C>T c.(1342-1344)Ctc>Ttc p.L448F LIPC_uc010bfz.1_Missense_Mutation_p.L448F|LIPC_uc002afa.2_Missense_Mutation_p.L448F|LIPC_uc010bgb.1_Missense_Mutation_p.L346F|LIPC_uc010ugy.2_Missense_Mutation_p.L387F NM_000236 NP_000227 P11150 LIPC_HUMAN Homo sapiens lipase, hepatic (LIPC), mRNA. 448 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CCACTCAGGCCTCGTTCTGAA 0.527000 14 6 0 0 0.00116845 0 0 MYO9A 4649 broad.mit.edu 37 15 72190481 72190481 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:72190481G>A uc002atl.4 - 24 4836 c.4363C>T c.(4363-4365)Ctt>Ttt p.L1455F MYO9A_uc010biq.3_Missense_Mutation_p.L1075F|MYO9A_uc002atn.1_Missense_Mutation_p.L1436F|MYO9A_uc002atk.3_Missense_Mutation_p.L179F|MYO9A_uc002atm.1_Missense_Mutation_p.L179F NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1455 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCCAAAGTAAGAGCTTCCCCC 0.393000 27 20 0 0 0.00152264 0 0 C18orf34 374864 broad.mit.edu 37 18 30926193 30926194 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:30926193_30926194GG>AA uc010xbr.1 - 7 781_782 c.639_640CC>TT c.(637-642)ctccca>ctTTca p.P214S C18orf34_uc002kxn.2_Missense_Mutation_p.P214S|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.P214S|C18orf34_uc002kxp.3_Missense_Mutation_p.P214S NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 214 p.P214S(3) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 ACAGCCAATGGGAGTTCTTGAA 0.347000 41 22 0 0 6.4e-05 0 0 PKD1L1 168507 broad.mit.edu 37 7 47921678 47921678 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:47921678C>T uc003tny.2 - 19 3305 c.3271G>A c.(3271-3273)Gac>Aac p.D1091N NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1091 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AAGCTGGTGTCCTTAGCTAGG 0.453000 34 18 0 0 0.000229342 0 0 SALL3 27164 broad.mit.edu 37 18 76754350 76754350 + Missense_Mutation SNP G A A rs2974290 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:76754350G>A uc002lmt.3 + 1 2359 c.2359G>A c.(2359-2361)Gac>Aac p.D787N SALL3_uc010dra.3_Missense_Mutation_p.D394N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 787 D -> N (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCTACGACGACAAGAACGC 0.647000 9 7 0 0 0.000157383 0 0 GPR115 221393 broad.mit.edu 37 6 47680197 47680197 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47680197C>T uc003oyz.1 + 5 576 c.576C>T c.(574-576)atC>atT p.I192I GPR115_uc003oza.1_Silent_p.I135I|GPR115_uc003ozb.1_Silent_p.I135I|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 135 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CTCAAGGAATCCGTAAGAACT 0.418000 63 25 0 0 0.000720815 0 0 SSFA2 6744 broad.mit.edu 37 2 182780654 182780654 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:182780654G>A uc002uoi.3 + 10 2609 c.2287G>A c.(2287-2289)Gag>Aag p.E763K SSFA2_uc002uoh.3_Missense_Mutation_p.E763K|SSFA2_uc002uoj.3_Missense_Mutation_p.E763K|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.E610K|SSFA2_uc002uol.3_Missense_Mutation_p.E610K|SSFA2_uc002uom.3_Missense_Mutation_p.E231K NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 763 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCAGGAAAAGAGACCAGATG 0.468000 37 23 0 0 0.00047179 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:140481411C>T uc003vwc.4 - 10 1458 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 466 Protein kinase. G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(35)|p.G466E(12)|p.G466A(5)|p.G466R(3)|p.S465S(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) TCCAAATGATCCAGATCCAAT 0.378000 G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 47 36 0 0 0.000814825 0 0 SLC35F1 222553 broad.mit.edu 37 6 118588217 118588217 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:118588217C>T uc003pxx.4 + 3 738 c.537C>T c.(535-537)atC>atT p.I179I NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA. 179 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TCCTGCTGATCCGGTACAAGG 0.517000 21 60 0 0 0.000781405 0 0 P2RX3 5024 broad.mit.edu 37 11 57135900 57135900 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:57135900C>A uc001nju.3 + 9 1176 c.992C>A c.(991-993)tCt>tAt p.S331Y NM_002559 NP_002550 P56373 P2RX3_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA. 331 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GCCTTTACTTCTGTGGGAGTG 0.612000 59 37 1.30998e-17 7.84529e-17 0.00111076 1 0 OR4K2 390431 broad.mit.edu 37 14 20344554 20344554 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20344554G>A uc001vwh.1 + 0 128 c.128G>A c.(127-129)aGc>aAc p.S43N NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGGTAACAGCCTCATAGTC 0.398000 138 43 0 0 0.000437636 0 0 BICC1 80114 broad.mit.edu 37 10 60562907 60562907 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:60562907C>T uc001jki.1 + 14 2086 c.2086C>T c.(2086-2088)Cca>Tca p.P696S BICC1_uc001jkj.1_Missense_Mutation_p.P337S NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA. 696 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CAAGAAGGCTCCAGGGAGTGA 0.532000 12 13 0 0 0.000308642 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113656944 113656944 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:113656944G>A uc003eaq.4 + 14 1721 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.E382K|GRAMD1C_uc003eas.3_Missense_Mutation_p.E344K|GRAMD1C_uc003eat.3_Missense_Mutation_p.E208K NM_017577 NP_001165576 Q8IYS0 GRM1C_HUMAN Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA. 549 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AAAGAAAAAGGAAATGGAAAA 0.289000 17 14 0 0 0.000958276 0 0 MYH2 4620 broad.mit.edu 37 17 10443353 10443353 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:10443353C>T uc010coi.3 - 11 1167 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E347K|MYH2_uc010coj.3_Missense_Mutation_p.E347K NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 347 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E347K(2) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTTTCTTCATTAGTAAAG 0.423000 43 39 0 0 0.00128727 0 0 AFF2 2334 broad.mit.edu 37 X 147743491 147743491 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:147743491G>A uc004fcp.3 + 2 722 c.243G>A c.(241-243)atG>atA p.M81I AFF2_uc004fco.3_Missense_Mutation_p.M77I|AFF2_uc004fcq.3_Missense_Mutation_p.M77I|AFF2_uc004fcr.3_Missense_Mutation_p.M77I|AFF2_uc011mxb.2_Missense_Mutation_p.M81I|AFF2_uc004fcs.3_Missense_Mutation_p.M77I NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 81 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ATGATGAAATGAAGAATTTGC 0.403000 13 75 0 0 0.000781405 0 0 THBS1 7057 broad.mit.edu 37 15 39874510 39874510 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:39874510G>A uc001zkh.3 + 2 363 c.184G>A c.(184-186)Gag>Aag p.E62K NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 62 Heparin-binding.|TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TTTCCGCATCGAGGATGCCAA 0.617000 29 13 0 0 0.000151284 0 0 GOLGA1 2800 broad.mit.edu 37 9 127684102 127684102 + Missense_Mutation SNP G A A rs149867372 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:127684102G>A uc004bpc.3 - 8 973 c.631C>T c.(631-633)Cgt>Tgt p.R211C GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Missense_Mutation_p.R186C NM_002077 NP_002068 Q92805 GOGA1_HUMAN Homo sapiens golgin A1 (GOLGA1), mRNA. 211 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TCCTGGGTACGACTAAGTTCT 0.418000 15 40 0 0 0.00128727 0 0 USP4 7375 broad.mit.edu 37 3 49362330 49362330 + Silent SNP A C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:49362330A>C uc003cwq.2 - 4 709 c.630T>G c.(628-630)ggT>ggG p.G210G USP4_uc003cwr.2_Silent_p.G210G|USP4_uc021wxv.1_Silent_p.G210G NM_003363 NP_003354 Q13107 UBP4_HUMAN Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA. 210 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CTCCTACCTGACCCTGGTATA 0.547000 76 50 0 0 0.000781405 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428488 170428488 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:170428488G>A uc002uev.4 - 1 440 c.52C>T c.(52-54)Cta>Tta p.L18L FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Silent_p.L4L|FASTKD1_uc002uey.2_Silent_p.L4L NM_024622 NP_078898 Q53R41 FAKD1_HUMAN Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA. 18 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 ATAGCTCTTAGACGAAGCATA 0.363000 36 30 0 0 0.000409698 0 0 PTAFR 5724 broad.mit.edu 37 1 28476903 28476903 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:28476903G>A uc009vte.3 - 2 965 c.630C>T c.(628-630)atC>atT p.I210I PTAFR_uc021ojz.1_Silent_p.I210I|PTAFR_uc001bpl.3_Silent_p.I210I|PTAFR_uc001bpm.4_Silent_p.I210I|PTAFR_uc021oka.1_Silent_p.I210I NM_001164721 NP_001158195 P25105 PTAFR_HUMAN Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA. 210 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GCAAGGTACGGATGATGACCA 0.567000 10 11 0 0 0.000978159 0 0 IDO1 3620 broad.mit.edu 37 8 39785614 39785614 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:39785614G>A uc003xnm.3 + 9 1236 c.1122G>A c.(1120-1122)ctG>ctA p.L374L NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 374 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CTTCAAAACTGGAAGCCAAAG 0.438000 14 10 0 0 0.000978159 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98735349 98735349 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:98735349G>A uc010mry.1 + 14 3543 c.2455G>A c.(2455-2457)Gaa>Aaa p.E819K ERCC6L2_uc004avu.3_Missense_Mutation_p.E397K|ERCC6L2_uc010msa.2_Missense_Mutation_p.E87K|ERCC6L2_uc011lun.1_Missense_Mutation_p.E87K Q5T890 RAD26_HUMAN Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA. 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding GCAGTCGTATGAATCAATGGA 0.279000 0 4 0 0 0.000602214 0 0 UBL7 84993 broad.mit.edu 37 15 74743820 74743820 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:74743820G>A uc002axw.1 - 4 591 c.429C>T c.(427-429)atC>atT p.I143I UBL7_uc002axx.1_Silent_p.I183I|UBL7_uc002axy.1_Silent_p.I143I|UBL7_uc002axz.1_Silent_p.I143I NM_032907 NP_957717 Q96S82 UBL7_HUMAN Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA. 143 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 TGGCCACAATGATCTGATCCA 0.493000 60 35 0 0 0.00111076 0 0 MXRA5 25878 broad.mit.edu 37 X 3239245 3239245 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:3239245G>A uc004crg.4 - 4 4638 c.4481C>T c.(4480-4482)tCg>tTg p.S1494L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1494 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGATGGGGACGAGGATGCTGG 0.483000 3 26 0 0 0.000720815 0 0 PARP4 143 broad.mit.edu 37 13 25077796 25077796 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:25077796G>A uc001upl.3 - 1 225 c.119C>T c.(118-120)tCg>tTg p.S40L PARP4_uc010tdc.2_Missense_Mutation_p.S40L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 40 BRCT. DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGGATTTAACGAAAAGGAAAA 0.383000 55 27 0 0 0.00127121 0 0 CCNF 899 broad.mit.edu 37 16 2493718 2493718 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:2493718C>T uc002cqd.1 + 8 934 c.846C>T c.(844-846)atC>atT p.I282I CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN Homo sapiens cyclin F (CCNF), mRNA. 282 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination SCF ubiquitin ligase complex|centriole|nucleus protein binding p.I282M(1) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) CCAGTGAGATCGTCTGCCAGC 0.502000 63 42 0 0 0.000680045 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350632 107350632 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:107350632C>T uc003vep.3 + 18 2447 c.2223C>T c.(2221-2223)tcC>tcT p.S741S SLC26A4_uc011kmb.2_Silent_p.S328S|SLC26A4_uc011kmc.2_Silent_p.S302S|SLC26A4_uc011kmd.2_Silent_p.S310S NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 741 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GTCAAGGTTCCATTTTAGAAA 0.348000 Pendred syndrome 24 15 0 0 0.000958276 0 0 GLCCI1 113263 broad.mit.edu 37 7 8095132 8095132 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:8095132C>T uc003srk.3 + 3 1325 c.766C>T c.(766-768)Cgc>Tgc p.R256C NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA. 256 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GGAGAAAGATCGCCAGTCACC 0.423000 35 22 0 0 0.000375601 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891882 18891882 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:18891882G>A uc001rdy.3 + 0 838 c.680G>A c.(679-681)aGg>aAg p.R227K PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 227 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AGTTTTGCAAGGCTTGTGGAA 0.403000 5 16 0 0 0.000566183 0 0 VCAN 1462 broad.mit.edu 37 5 82817592 82817592 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:82817592C>T uc003kii.3 + 6 3823 c.3467C>T c.(3466-3468)cCt>cTt p.P1156L VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P1156L|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1156 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTTTGAGTCCTTTTAGTACC 0.393000 38 21 0 0 0.000295444 0 0 DLL4 54567 broad.mit.edu 37 15 41224428 41224428 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:41224428C>T uc001zng.2 + 5 1055 c.719_splice c.e5+1 p.L240_splice NM_019074 NP_061947 Q9NR61 DLL4_HUMAN Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA. 240 EGF-like 1. Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation integral to membrane|plasma membrane Notch binding|calcium ion binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGCAGAGTGCCTGTGAGTAGG 0.582000 38 25 0 0 0.000375601 0 0 EGFR 1956 broad.mit.edu 37 7 55268067 55268067 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:55268067C>T uc003tqk.3 + 23 3153 c.2907C>T c.(2905-2907)tcC>tcT p.S969S EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 969 Protein kinase. 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 p.F968L(1) 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) TCGAATTCTCCAAAATGGCCC 0.483000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 41 36 0 0 0.000437636 0 0 CEP128 145508 broad.mit.edu 37 14 81251542 81251542 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:81251542G>A uc001xux.2 - 13 2079 c.1908C>T c.(1906-1908)tcC>tcT p.S636S CEP128_uc010asz.2_Non-coding_Transcript NM_152446 NP_689659 Q6ZU80 CE128_HUMAN Homo sapiens centrosomal protein 128kDa (CEP128), mRNA. 636 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GGTCCTTGATGGACTCTTGCA 0.478000 48 31 0 0 0.00178596 0 0 NIPBL 25836 broad.mit.edu 37 5 37019442 37019442 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:37019442A>T uc003jkl.4 + 24 5449 c.4950A>T c.(4948-4950)caA>caT p.Q1650H NIPBL_uc003jkk.4_Missense_Mutation_p.Q1650H NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 1650 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAATCCAACAATTACAAAAAG 0.338000 39 22 0 0 0.00106085 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632545 19632545 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:19632545G>A uc001bbw.3 - 5 907 c.885C>T c.(883-885)gcC>gcT p.A295A NM_003689 NP_003680 O43488 ARK72_HUMAN Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA. 295 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCACCGGAGGGCAGCCGAGG 0.627000 40 33 0 0 0.00058488 0 0 LAD1 3898 broad.mit.edu 37 1 201356205 201356205 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:201356205C>T uc001gwm.3 - 2 519 c.284G>A c.(283-285)cGg>cAg p.R95Q LAD1_uc009wzu.1_Missense_Mutation_p.R117Q NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 95 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCTCTGCCTCCGCTCCTGCCG 0.647000 51 13 0 0 0.000151284 0 0 ADAM11 4185 broad.mit.edu 37 17 42837206 42837206 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:42837206G>A uc002ihh.3 + 1 178 c.178G>A c.(178-180)Gga>Aga p.G60R ADAM11_uc010wjd.2_5'UTR NM_002390 NP_002381 O75078 ADA11_HUMAN Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA. 60 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.G59W(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GAGCTCCGGGGGAGAGGTCCG 0.697000 11 16 0 0 0.000308642 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160732021 160732021 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:160732021G>A uc002ubb.4 - 11 1982 c.1908C>T c.(1906-1908)tcC>tcT p.S636S LY75-CD302_uc010fos.3_Silent_p.S636S|LY75-CD302_uc002ubc.4_Silent_p.S636S|LY75-CD302_uc010fot.2_Silent_p.S636S NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 636 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding CAGGCTTAGGGGATGCTTCTT 0.463000 37 20 0 0 0.000375601 0 0 TRPC7 57113 broad.mit.edu 37 5 135692931 135692931 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:135692931C>T uc003lbn.2 - 1 367 c.145G>A c.(145-147)Gac>Aac p.D49N TRPC7_uc010jef.2_Missense_Mutation_p.D40N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.D49N|TRPC7_uc010jei.2_Missense_Mutation_p.D49N NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 49 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCAGCCGAGTCCAGGAAGCGC 0.602000 67 34 0 0 0.000814825 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954353 79954353 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:79954353A>G uc002kcy.3 + 6 661 c.564A>G c.(562-564)tcA>tcG p.S188S ASPSCR1_uc002kcx.3_Silent_p.S188S|ASPSCR1_uc021ufj.1_Silent_p.S111S|ASPSCR1_uc002kda.3_Silent_p.S111S|ASPSCR1_uc002kdb.1_Silent_p.S111S NM_001251888 NP_001238817 Q9BZE9 ASPC1_HUMAN Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA. 188 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGGGCTCGTCAGCGTCGGCTG 0.657000 T TFE3 alveolar soft part sarcoma 29 18 0 0 0.00074312 0 0 C16orf91 283951 broad.mit.edu 37 16 1476323 1476323 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:1476323G>A uc010uvd.2 - 2 300 c.300C>T c.(298-300)aaC>aaT p.N100N NM_001010878 NP_001010878 Q4G0I0 CSMT1_HUMAN Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA. 0 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CACCTTCCTGGTTGTTGTGGT 0.622000 33 26 0 0 0.000878237 0 0 ACADM 34 broad.mit.edu 37 1 76194104 76194104 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:76194104C>T uc001dgw.4 + 1 479 c.49C>T c.(49-51)Cgt>Tgt p.R17C ACADM_uc010orc.1_Missense_Mutation_p.R17C|ACADM_uc010ord.2_5'UTR|ACADM_uc009wbr.3_Missense_Mutation_p.R17C|ACADM_uc010ore.2_Intron|ACADM_uc010orf.2_Intron|ACADM_uc009wbp.3_Missense_Mutation_p.R21C NM_000016 NP_000007 P11310 ACADM_HUMAN Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 17 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 AAGTATTTCTCGTTTTCATTG 0.313000 84 60 0 0 0.000781405 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486272 11486272 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:11486272C>T uc002mrg.1 + 1 307 c.270C>T c.(268-270)ccC>ccT p.P90P NM_175871 NP_787067 Q6NVH7 CS039_HUMAN Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA. 90 GGCCAGCCCCCTCCCTTCTGC 0.607000 63 46 0 0 0.000680045 0 0 LEPRE1 64175 broad.mit.edu 37 1 43213059 43213059 + Nonsense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:43213059T>A uc001chx.4 - 13 2052 c.1939A>T c.(1939-1941)Aga>Tga p.R647* LEPRE1_uc001chw.2_Nonsense_Mutation_p.R647*|LEPRE1_uc001chv.2_Nonsense_Mutation_p.R647* NM_001243246 NP_001230175 Q32P28 P3H1_HUMAN Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA. 647 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CCCACGGCTCTTCCACACTGA 0.582000 OREG0013422 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 25 0 0 0.00106085 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516156 140516156 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140516156G>A uc003liq.3 + 0 1357 c.1140G>A c.(1138-1140)atG>atA p.M380I NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 380 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGGTAGGATGATTTGCTCCA 0.488000 46 24 0 0 0.001512 0 0 DGKB 1607 broad.mit.edu 37 7 14613949 14613949 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:14613949C>T uc003ssz.3 - 18 1848 c.1661G>A c.(1660-1662)aGc>aAc p.S554N DGKB_uc011jxt.2_Missense_Mutation_p.S535N|DGKB_uc003sta.3_Missense_Mutation_p.S554N|DGKB_uc011jxu.2_Missense_Mutation_p.S553N NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 554 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GATTTCTGTGCTGTTTTCAAT 0.343000 71 43 0 0 0.00148497 0 0 IFNG 3458 broad.mit.edu 37 12 68551714 68551714 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:68551714G>A uc001stw.1 - 2 471 c.345C>T c.(343-345)ttC>ttT p.F115F NM_000619 NP_000610 P01579 IFNG_HUMAN Homo sapiens interferon, gamma (IFNG), mRNA. 115 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding p.F115F(2) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) TCAGCTTTTCGAAGTCATCTC 0.368000 15 69 0 0 0.000781405 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894811 139894811 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:139894811G>A uc003etn.3 + 1 318 c.128G>A c.(127-129)tGg>tAg p.W43* CLSTN2_uc003etm.2_Nonsense_Mutation_p.W43* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 43 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACAAGCCATGGATCGAGACT 0.353000 HNSCC(16;0.037) 4 10 0 0 0.00136819 0 0 EMR3 84658 broad.mit.edu 37 19 14765810 14765810 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:14765810G>A uc002mzi.4 - 5 709 c.561C>T c.(559-561)atC>atT p.I187I EMR3_uc010dzp.3_Silent_p.I135I|EMR3_uc010xnv.2_Intron NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 187 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 TATCGTTTTGGATTTTCAGGA 0.413000 34 16 0 0 0.000566183 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359844 77359844 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:77359844G>A uc002ffc.4 - 12 2370 c.1951C>T c.(1951-1953)Cgg>Tgg p.R651W ADAMTS18_uc010chc.1_Missense_Mutation_p.R239W|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R347W NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 651 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGTTGAGCCCGAAAATCCAAG 0.423000 3 9 0 0 0.000274275 0 0 SZT2 23334 broad.mit.edu 37 1 43907442 43907442 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:43907442C>T uc001cjk.2 + 53 7608 c.4998C>T c.(4996-4998)gtC>gtT p.V1666V NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2565 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCGCACTGGTCACCTCAATGG 0.527000 37 19 0 0 0.00121646 0 0 HDLBP 3069 broad.mit.edu 37 2 242173340 242173341 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:242173340_242173341GG>TT uc002waz.3 - 23 3355_3356 c.3182_3183CC>AA c.(3181-3183)ccc>cAA p.P1061Q HDLBP_uc002wba.3_Missense_Mutation_p.P1061Q|HDLBP_uc021vzg.1_Missense_Mutation_p.P1028Q NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 1061 KH 13. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GATGGTATTTGGGGTCTACAGT 0.465000 135 7 0 0 6.4e-05 0 0 ZFP64 55734 broad.mit.edu 37 20 50701609 50701609 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:50701609C>T uc002xwk.3 - 8 1774 c.1425G>A c.(1423-1425)caG>caA p.Q475Q ZFP64_uc002xwj.3_Silent_p.Q256Q NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA. 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L475fs*45(1) breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGTCCCGGCCCTGGAAGGCAC 0.627000 60 25 0 0 0.000720815 0 0 RANBP2 5903 broad.mit.edu 37 2 109370326 109370326 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:109370326C>T uc002tem.4 + 14 2227 c.2101C>T c.(2101-2103)Cct>Tct p.P701S NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 701 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCTTTCTCCTGAAGAACA 0.313000 122 78 0 0 0.000781405 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552419 21552419 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:21552419C>A uc003cce.3 - 3 781 c.373G>T c.(373-375)Gac>Tac p.D125Y ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 125 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TTTGCGCTGTCCTTGGCAGTT 0.463000 27 25 3.01185e-09 1.78386e-08 0.000586117 1 0 POLD1 5424 broad.mit.edu 37 19 50909675 50909675 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:50909675G>A uc010eny.3 + 10 1396 c.1395G>A c.(1393-1395)cgG>cgA p.R465R POLD1_uc002psb.4_Silent_p.R465R|POLD1_uc002psc.4_Silent_p.R465R|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 465 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TGCTGCTGCGGGAGTACAAGC 0.652000 DNA polymerases (catalytic subunits) 5 6 0 0 0.00116845 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737457 62737457 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:62737457C>T uc011abt.2 - 0 728 c.728G>A c.(727-729)cGg>cAg p.R243Q NM_005286 NP_005277 P48146 NPBW2_HUMAN Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA. 243 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGAGCGGAGCCGCACGGCCCG 0.667000 13 5 0 0 0.000602214 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322957 61322957 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:61322957G>A uc002lji.3 - 7 1251 c.1107C>T c.(1105-1107)ttC>ttT p.F369F SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Silent_p.F317F NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 369 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGAAGAATAGGAAAGGGTGAT 0.438000 8 5 0 0 0.00116845 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217281010 217281010 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:217281010T>C uc002vgc.4 + 3 1172 c.842T>C c.(841-843)aTg>aCg p.M281T SMARCAL1_uc002vgd.4_Missense_Mutation_p.M281T|SMARCAL1_uc010fvg.3_Missense_Mutation_p.M281T NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 281 HARP 1. DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AACTTCAGCATGAATGACTAT 0.433000 Schimke Immuno-Osseous Dysplasia 55 42 0 0 0.000781405 0 0 OR6N2 81442 broad.mit.edu 37 1 158746637 158746637 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158746637C>T uc010pir.2 - 0 789 c.789G>A c.(787-789)aaG>aaA p.K263K NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) AATAGCTCTTCTTTAGCCGCA 0.443000 39 22 0 0 0.000229342 0 0 TTN 7273 broad.mit.edu 37 2 179588002 179588002 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179588002C>T uc021vsy.1 - 71 18225 c.18000G>A c.(17998-18000)ggG>ggA p.G6000G TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2661G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6927 Ig-like 41. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTATGGACTTCCCTGGTTCTA 0.378000 9 6 0 0 0.00116845 0 0 KLKB1 3818 broad.mit.edu 37 4 187178468 187178469 + Missense_Mutation DNP CC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:187178468_187178469CC>AA uc003iyy.3 + 13 1745_1746 c.1674_1675CC>AA c.(1672-1677)acccaa>acAAaa p.Q559K KLKB1_uc011clc.2_Missense_Mutation_p.Q357K|KLKB1_uc011cld.2_Intron NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 559 Peptidase S1. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ATAAAATAACCCAACGGATGGT 0.347000 259 9 0 0 6.4e-05 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478362 14478363 + RNA DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:14478362_14478363GG>AA uc010xai.2 - 2 c.1201_1202CC>TT Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. TGGATTCCAGGGATGAATGATT 0.470000 22 6 0 0 6.4e-05 0 0 F2RL1 2150 broad.mit.edu 37 5 76128862 76128863 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:76128862_76128863GG>TT uc003keo.3 + 1 605_606 c.430_431GG>TT c.(430-432)ggg>TTg p.G144L NM_005242 NP_005233 P55085 PAR2_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA. 144 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CTGGATTTATGGGGAAGCTCTT 0.455000 729 15 0 0 6.4e-05 0 0 OTOF 9381 broad.mit.edu 37 2 26703657 26703657 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:26703657C>T uc002rhk.3 - 14 1927 c.1800G>A c.(1798-1800)tcG>tcA p.S600S OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 600 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCTCACCTCCGAGATGGGCG 0.667000 26 13 0 0 0.000219431 0 0 ATP9A 10079 broad.mit.edu 37 20 50273534 50273534 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:50273534C>T uc002xwg.1 - 13 1449 c.1449G>A c.(1447-1449)gaG>gaA p.E483E ATP9A_uc010gih.1_Silent_p.E347E|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 483 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCTTCTCGGCCTCAGCCTGAT 0.617000 17 15 0 0 0.000308642 0 0 FAM209B 388799 broad.mit.edu 37 20 55111285 55111285 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:55111285C>T uc010zzh.2 + 1 387 c.307C>T c.(307-309)Caa>Taa p.Q103* FAM209B_uc002xxz.3_Nonsense_Mutation_p.Q103* NM_001013646 NP_001013668 Q5JX69 CT107_HUMAN Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA. 103 integral to membrane AAAGAAAAATCAAAATGCTTC 0.398000 56 35 0 0 0.000692331 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37438604 37438604 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:37438604C>T uc021ppc.1 + 9 1500 c.1401C>T c.(1399-1401)ttC>ttT p.F467F ANKRD30A_uc001iza.1_Silent_p.F467F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 523 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 CATCTGCCTTCAAGGTATTTA 0.299000 37 30 0 0 0.000409698 0 0 PKD1L1 168507 broad.mit.edu 37 7 47851482 47851482 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:47851482G>A uc003tny.2 - 49 7548 c.7514C>T c.(7513-7515)tCc>tTc p.S2505F C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.S232F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2505 cell-cell adhesion integral to membrane p.S2504*(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTCCACCAGGGATGAGGGGAC 0.592000 6 4 0 0 0.00024832 0 0 IGLL3P 91353 broad.mit.edu 37 22 25715866 25715866 + RNA SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:25715866A>G uc021wnj.1 + 2 c.348A>G Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA. cervix(1)|lung(4)|skin(1)|stomach(3) 9 TGGAAGGCAGATGGTACCCCC 0.577000 54 37 0 0 0.000589545 0 0 PPYR1 5540 broad.mit.edu 37 10 47087533 47087533 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:47087533G>A uc001jee.3 + 2 1169 c.750G>A c.(748-750)aaG>aaA p.K250K ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.K250K|PPYR1_uc021ppu.1_Silent_p.K250K NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 250 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGTTTCACAAGGGCACCTACA 0.597000 102 14 0 0 0.000219431 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131797938 131797938 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:131797938C>T uc002tsa.1 + 7 1548 c.1029C>T c.(1027-1029)ttC>ttT p.F343F ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.F343F|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA. 343 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane Rac guanyl-nucleotide exchange factor activity|protein domain specific binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGAAGGCCTTCGTGAAGGCCC 0.657000 5 7 0 0 0.000157383 0 0 SMO 6608 broad.mit.edu 37 7 128845089 128845089 + Missense_Mutation SNP G A A rs138284001 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:128845089G>A uc003vor.3 + 2 863 c.583G>A c.(583-585)Gtg>Atg p.V195M SMO_uc003vos.3_5'Flank NM_005631 NP_005622 Q99835 SMO_HUMAN Homo sapiens smoothened, frizzled family receptor (SMO), mRNA. 195 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCAGTGCGAAGTGCCCTTGGT 0.582000 Mis skin basal cell 29 20 0 0 0.000229342 0 0 GRIK2 2898 broad.mit.edu 37 6 102134192 102134192 + Silent SNP G A A rs145542805 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:102134192G>A uc003pqp.4 + 5 1208 c.915G>A c.(913-915)ccG>ccA p.P305P GRIK2_uc021zdj.1_Silent_p.P305P|GRIK2_uc003pqn.3_Silent_p.P305P|GRIK2_uc010kcw.3_Silent_p.P305P|GRIK2_uc003pqo.4_Silent_p.P305P|GRIK2_uc021zdk.1_Silent_p.P305P|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 305 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGCACCTCCGAAACCCGATT 0.393000 5 26 0 0 0.00127121 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107569 6107569 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:6107569C>T uc010idb.1 - 2 741 c.255G>A c.(253-255)caG>caA p.Q85Q JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.Q85Q|JAKMIP1_uc003giu.4_Silent_p.Q85Q|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Silent_p.Q85Q|JAKMIP1_uc010ide.3_Silent_p.Q85Q NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 85 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGCGCAGCGCCTGCAGCTCCT 0.677000 21 19 0 0 0.000229342 0 0 TTN 7273 broad.mit.edu 37 2 179542873 179542873 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179542873C>T uc021vsy.1 - 141 30466 c.30241G>A c.(30241-30243)Gtg>Atg p.V10081M TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6742M|TTN_uc010fre.1_Missense_Mutation_p.V738M|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11008 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGCTTCCACTTTTTTCGGA 0.363000 39 25 0 0 0.00106085 0 0 NLRC5 84166 broad.mit.edu 37 16 57054760 57054760 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57054760G>A uc021tiu.1 + 1 263 c.136G>A c.(136-138)Gag>Aag p.E46K NLRC5_uc021tit.1_Missense_Mutation_p.E46K|NLRC5_uc010ccq.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 46 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TTCCAGGAACGAGACCTTGGA 0.532000 18 12 0 0 0.000422831 0 0 AKAP1 8165 broad.mit.edu 37 17 55184399 55184399 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:55184399C>T uc010wnl.2 + 2 1856 c.1574C>T c.(1573-1575)tCg>tTg p.S525L AKAP1_uc002iux.3_Missense_Mutation_p.S525L|AKAP1_uc021uak.1_Missense_Mutation_p.S525L|AKAP1_uc010dcm.3_Missense_Mutation_p.S525L|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 525 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GAGACCAGCTCGAGCCCCAGG 0.572000 69 95 0 0 0.000781405 0 0 SIRT5 23408 broad.mit.edu 37 6 13612059 13612059 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:13612059G>A uc003nay.3 + 9 1207 c.895G>A c.(895-897)Gaa>Aaa p.E299K SIRT5_uc003nax.3_Missense_Mutation_p.E191K|SIRT5_uc011dit.2_Missense_Mutation_p.E281K NM_012241 NP_001229756 Q9NXA8 SIRT5_HUMAN Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA. 299 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GACTCTTCCTGAAGCCCTTGC 0.423000 340 133 0 0 0.000781405 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518410 161518410 + Silent SNP C T T rs147185130 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:161518410C>T uc001gar.3 - 2 412 c.228G>A c.(226-228)aaG>aaA p.K76K FCGR3A_uc001gas.3_Silent_p.K75K|FCGR3A_uc001gat.4_Silent_p.K40K|FCGR3A_uc009wuh.3_Silent_p.K39K|FCGR3A_uc009wui.3_Silent_p.K40K NM_000569 NP_001121067 P08637 FCG3A_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA. 40 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity p.K76*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) TCACACTGTCCTTCTCGAGCA 0.552000 124 56 0 0 0.000781405 0 0 ARMCX1 51309 broad.mit.edu 37 X 100807961 100807961 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:100807961C>T uc022cak.1 + 0 48 c.48C>T c.(46-48)atC>atT p.I16I ARMCX1_uc004ehv.3_Silent_p.I16I|ARMCX1_uc004ehw.3_Silent_p.I16I NM_016608 NP_057692 Q9P291 ARMX1_HUMAN Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA. 16 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GTGTGGTTATCGGGGCTGGTG 0.572000 5 26 0 0 0.000878237 0 0 DSCAM 1826 broad.mit.edu 37 21 41465764 41465764 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41465764G>A uc002yyq.1 - 20 4186 c.3734C>T c.(3733-3735)tCc>tTc p.S1245F 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. 1245 Fibronectin type-III 4. 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 p.S1245F(2) 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) AATTCTGTAGGAAAACGAGTC 0.483000 17 5 0 0 0.000602214 0 0 PKN1 5585 broad.mit.edu 37 19 14581443 14581443 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:14581443G>A uc002myp.3 + 19 2661 c.2493G>A c.(2491-2493)gaG>gaA p.E831E PKN1_uc002myq.3_Silent_p.E837E NM_002741 NP_002732 Q16512 PKN1_HUMAN Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. 831 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 TCAACGACGAGGTTCGCTACC 0.682000 21 4 0 0 0.000602214 0 0 OR2F1 26211 broad.mit.edu 37 7 143657367 143657367 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143657367T>A uc003wds.1 + 0 348 c.304T>A c.(304-306)Ttt>Att p.F102I NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 102 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) AGCCCAGTTATTTTTCTCCCT 0.527000 60 46 0 0 0.000781405 0 0 ZNF234 10780 broad.mit.edu 37 19 44661600 44661600 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:44661600C>T uc002oym.3 + 5 1738 c.1431C>T c.(1429-1431)atC>atT p.I477I ZNF234_uc002oyl.4_Silent_p.I477I NM_006630 NP_006621 Q14588 ZN234_HUMAN Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA. 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) ACCAGCTGATCCATACCGGTG 0.438000 39 32 0 0 0.00178596 0 0 CDH4 1002 broad.mit.edu 37 20 60503270 60503270 + Silent SNP C T T rs113168761 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:60503270C>T uc002ybn.2 + 11 1882 c.1794C>T c.(1792-1794)acC>acT p.T598T CDH4_uc002ybr.2_Silent_p.T561T|CDH4_uc002ybp.2_Silent_p.T524T NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 598 Cadherin 4. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCAGCGGCACCGGGACCCTCC 0.612000 74 42 0 0 0.000781405 0 0 ARSE 415 broad.mit.edu 37 X 2873470 2873470 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:2873470G>A uc011mhh.2 - 4 830 c.369C>T c.(367-369)taC>taT p.Y123Y ARSE_uc011mhi.2_Silent_p.Y44Y|ARSE_uc004crc.4_Silent_p.Y98Y P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 98 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATCGCACAGGGTATCTGCCCG 0.498000 3 10 0 0 0.000442599 0 0 VN1R4 317703 broad.mit.edu 37 19 53770837 53770837 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53770837G>A uc010ydu.2 - 0 82 c.82C>T c.(82-84)Cat>Tat p.H28Y NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA. 28 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GAGAGATAATGGAGAAGAACA 0.498000 HNSCC(26;0.072) 42 21 0 0 0.00152264 0 0 NEU1 4758 broad.mit.edu 37 6 31827680 31827680 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31827680G>A uc003nxq.4 - 5 1220 c.1064C>T c.(1063-1065)tCa>tTa p.S355L NM_000434 NP_000425 Q99519 NEUR1_HUMAN Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA. 355 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) TTTCCGCCATGAGGTACCATT 0.612000 347 143 0 0 0.000781405 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655310 139655310 + Missense_Mutation SNP C T T rs138612126 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:139655310C>T uc011kqv.2 + 7 968 c.733C>T c.(733-735)Ccg>Tcg p.P245S TBXAS1_uc003vvh.3_Missense_Mutation_p.P199S|TBXAS1_uc010lne.3_Missense_Mutation_p.P131S|TBXAS1_uc011kqu.2_Missense_Mutation_p.P150S|TBXAS1_uc003vvi.3_Missense_Mutation_p.P199S|TBXAS1_uc011kqw.2_Missense_Mutation_p.P179S|TBXAS1_uc003vvj.3_Missense_Mutation_p.P199S NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 198 N -> S (in allele CYP5A1*4). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CTTTGGCACCCCGGTGGACTC 0.547000 49 32 0 0 0.000339439 0 0 PLB1 151056 broad.mit.edu 37 2 28741348 28741348 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:28741348C>T uc002rmb.2 + 2 177 c.133C>T c.(133-135)Cca>Tca p.P45S PLB1_uc010ezj.2_Missense_Mutation_p.P45S NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 45 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity p.P45L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GAAGAATTCTCCATTCCCATG 0.408000 38 30 0 0 0.000814825 0 0 XKR5 389610 broad.mit.edu 37 8 6690262 6690262 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:6690262G>A uc022aqv.1 - 1 370 c.219C>T c.(217-219)ctC>ctT p.L73L XKR5_uc003wqq.3_5'UTR|LOC100652791_uc022aqw.1_5'Flank NM_207411 NP_997294 Q6UX68 XKR5_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA. 73 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) CAAGCTGTAGGAGGTGCAGCA 0.552000 49 34 0 0 0.00170553 0 0 TP63 8626 broad.mit.edu 37 3 189526244 189526244 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:189526244G>A uc003fry.2 + 3 597 c.508G>A c.(508-510)Gac>Aac p.D170N TP63_uc003frx.2_Missense_Mutation_p.D170N|TP63_uc003frz.2_Missense_Mutation_p.D170N|TP63_uc010hzc.1_Missense_Mutation_p.D170N|TP63_uc003fsa.2_Missense_Mutation_p.D76N|TP63_uc003fsb.2_Missense_Mutation_p.D76N|TP63_uc003fsc.2_Missense_Mutation_p.D76N|TP63_uc003fsd.2_Missense_Mutation_p.D76N|TP63_uc021xir.1_Missense_Mutation_p.D76N|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.D51N NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 170 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D170E(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTCCAACACCGACTACCCAGG 0.647000 HNSCC(45;0.13) 19 17 0 0 0.000422831 0 0 TARBP1 6894 broad.mit.edu 37 1 234573064 234573064 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:234573064G>A uc001hwd.3 - 12 2189 c.2189C>T c.(2188-2190)tCt>tTt p.S730F NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 730 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AATAAATTCAGAAATGCTCTC 0.333000 68 115 0 0 0.000781405 0 0 PRIC285 85441 broad.mit.edu 37 20 62200605 62200605 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:62200605G>A uc002yfm.2 - 4 1876 c.984C>T c.(982-984)aaC>aaT p.N328N PRIC285_uc002yfl.1_5'Flank NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 328 FNR -> SNH (in Ref. 2; BAE46995). cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CGCTGCTGCGGTTGAACTCCA 0.657000 11 4 0 0 0.00116845 0 0 FOXN3 1112 broad.mit.edu 37 14 89878539 89878539 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:89878539G>A uc001xxo.4 - 1 419 c.282C>T c.(280-282)acC>acT p.T94T FOXN3_uc001xxn.4_Silent_p.T94T|FOXN3_uc010atk.3_Silent_p.T94T|FOXN3_uc001xxp.2_Silent_p.T94T NM_001085471 NP_001078940 O00409 FOXN3_HUMAN Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA. 94 DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGATGGGGGGGTGTCATCGT 0.592000 31 26 0 0 0.000878237 0 0 F13B 2165 broad.mit.edu 37 1 197029611 197029611 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:197029611G>A uc001gtt.1 - 4 734 c.690C>T c.(688-690)acC>acT p.T230T NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 230 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTTCTTCATAGGTTTGCTTTA 0.284000 12 15 0 0 0.000219431 0 0 ZNF627 199692 broad.mit.edu 37 19 11728123 11728123 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:11728123C>T uc002msk.2 + 3 1013 c.805C>T c.(805-807)Cat>Tat p.H269Y NM_145295 NP_660338 Q7L945 ZN627_HUMAN Homo sapiens zinc finger protein 627 (ZNF627), mRNA. 269 H -> R (in Ref. 2; AAH98416). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 CATTCGAATCCATGAACGAAC 0.448000 15 7 0 0 8.12818e-05 0 0 FSIP1 161835 broad.mit.edu 37 15 40068663 40068663 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:40068663G>A uc001zki.3 - 1 281 c.63C>T c.(61-63)cgC>cgT p.R21R NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA. 21 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TGCTCCCAGGGCGTATTCTTG 0.353000 63 39 0 0 0.000437636 0 0 FAT2 2196 broad.mit.edu 37 5 150924933 150924933 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:150924933G>A uc003lue.4 - 8 5768 c.5755C>T c.(5755-5757)Cat>Tat p.H1919Y NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1919 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGACAGGATGGATGGTAACA 0.502000 42 43 0 0 0.000781405 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202936 140202936 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140202936G>A uc003lhl.2 + 0 1576 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.E526K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E526K NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 541 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGAGGAAGTGGAGCT 0.692000 79 45 0 0 0.000781405 0 0 OR2G3 81469 broad.mit.edu 37 1 247769009 247769009 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247769009G>A uc010pyz.2 + 0 122 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACCCTTGTGGGAAACTTCACC 0.448000 121 63 0 0 0.000781405 0 0 MTOR 2475 broad.mit.edu 37 1 11298094 11298094 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:11298094G>A uc001asd.3 - 12 2135 c.2014C>T c.(2014-2016)Cgc>Tgc p.R672C NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 672 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ACACAGTAGCGAATGTCAGGG 0.552000 30 11 0 0 0.000978159 0 0 IL4 3565 broad.mit.edu 37 5 132010149 132010149 + Splice_Site SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:132010149A>G uc003kxk.1 + 2 506 c.136_splice c.e2-2 p.T46_splice IL4_uc003kxl.1_Intron NM_000589 NP_000580 P05112 IL4_HUMAN Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA. 46 B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) GCCTGGACCAAGACTCTGTGC 0.517000 59 30 0 0 0.000692331 0 0 BEST3 144453 broad.mit.edu 37 12 70091527 70091527 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:70091527G>A uc001svg.3 - 1 279 c.52C>T c.(52-54)Cat>Tat p.H18Y BEST3_uc001svd.2_Missense_Mutation_p.H18Y|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 18 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGTAACCTATGAAATCCAAAA 0.348000 26 116 0 0 0.000781405 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638485 18638485 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:18638485C>T uc010cqg.1 + 6 1099 c.1065C>T c.(1063-1065)ctC>ctT p.L355L TRIM16L_uc010vyf.1_Silent_p.L307L|TRIM16L_uc002gug.1_Silent_p.L253L|TRIM16L_uc002guh.1_Silent_p.L253L|TRIM16L_uc002gui.1_Silent_p.L253L|TRIM16L_uc010vyg.1_Silent_p.L253L|TRIM16L_uc010vyh.1_3'UTR NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA. 253 cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 CCTGGAGCCTCCAATGGAACG 0.572000 74 54 0 0 0.000781405 0 0 ARPP21 10777 broad.mit.edu 37 3 35763143 35763143 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:35763143A>T uc011axy.2 + 11 1152 c.940A>T c.(940-942)Agc>Tgc p.S314C ARPP21_uc003cga.3_Missense_Mutation_p.S294C|ARPP21_uc003cgb.3_Missense_Mutation_p.S348C|ARPP21_uc003cgf.3_Missense_Mutation_p.S149C|ARPP21_uc003cgg.3_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 348 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TCGACAGAGCAGCTCAGAAAA 0.537000 10 4 0 0 0.000602214 0 0 ABCC11 85320 broad.mit.edu 37 16 48204118 48204118 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:48204118G>A uc002eff.1 - 26 4139 c.3789C>T c.(3787-3789)ttC>ttT p.F1263F ABCC11_uc002efg.1_Silent_p.F1263F|ABCC11_uc002efh.1_Intron|ABCC11_uc010cbg.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 1263 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCTTTTTGGGGAACTTTGAGA 0.522000 120 79 0 0 0.000781405 0 0 KIF26A 26153 broad.mit.edu 37 14 104641757 104641757 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:104641757C>T uc001yos.4 + 11 2632 c.2632C>T c.(2632-2634)Ccc>Tcc p.P878S NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 878 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGGCCGGAAGCCCTCGCCACC 0.706000 4 6 0 0 8.12818e-05 0 0 LYST 1130 broad.mit.edu 37 1 235860522 235860522 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:235860522G>A uc001hxj.2 - 45 10600 c.10425C>T c.(10423-10425)tcC>tcT p.S3475S LYST_uc001hxi.2_Silent_p.S699S NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 3475 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GAGCACTGGGGGAACCCACGT 0.473000 50 25 0 0 0.000878237 0 0 PRMT8 56341 broad.mit.edu 37 12 3702313 3702313 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:3702313G>A uc001qmf.3 + 9 1517 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K PRMT8_uc009zed.3_Missense_Mutation_p.E375K|PRMT8_uc001qmg.3_Missense_Mutation_p.E198K|PRMT8_uc001qmh.3_Non-coding_Transcript NM_019854 NP_062828 Q9NR22 ANM8_HUMAN Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA. 384 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) ACAGCTGTGTGAAACATCTGT 0.522000 4 21 0 0 0.000720815 0 0 MAST2 23139 broad.mit.edu 37 1 46499889 46499889 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:46499889C>T uc001cov.3 + 27 4102 c.3819C>T c.(3817-3819)ccC>ccT p.P1273P MAST2_uc001cow.3_Silent_p.P1272P|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 1273 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCCTTTCCCCCCGATCTCCCA 0.602000 13 15 0 0 0.000308642 0 0 KLHL13 90293 broad.mit.edu 37 X 117053571 117053571 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:117053571C>T uc011mtp.2 - 4 625 c.492G>A c.(490-492)atG>atA p.M164I KLHL13_uc004eqk.3_Missense_Mutation_p.M110I|KLHL13_uc004eql.3_Missense_Mutation_p.M161I|KLHL13_uc011mtn.2_Missense_Mutation_p.M1I|KLHL13_uc011mto.2_Missense_Mutation_p.M155I|KLHL13_uc011mtq.2_Missense_Mutation_p.M145I|KLHL13_uc004eqm.3_Missense_Mutation_p.M119I|KLHL13_uc022cde.1_Missense_Mutation_p.M145I NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 161 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAAGGTTGTCCATATTAAGAG 0.368000 6 51 0 0 0.000781405 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62855806 62855806 + Silent SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:62855806G>T uc002jey.2 - 10 5074 c.4458C>A c.(4456-4458)ccC>ccA p.P1486P LRRC37A3_uc010wqg.1_Silent_p.P604P|LRRC37A3_uc002jex.1_Silent_p.P463P|LRRC37A3_uc010wqf.1_Silent_p.P524P|LRRC37A3_uc010dek.1_Silent_p.P492P|DQ578599_uc021ubv.1_5'Flank NM_199340 NP_955372 O60309 L37A3_HUMAN Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA. 1486 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CATTGTTGTTGGGGATAACGG 0.527000 316 10 0.000673444 0.00394229 0.000673444 1 0 ZKSCAN5 23660 broad.mit.edu 37 7 99117481 99117481 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:99117481C>T uc003uqv.3 + 3 709 c.585C>T c.(583-585)ccC>ccT p.P195P ZKSCAN5_uc010lfx.3_Silent_p.P195P|ZKSCAN5_uc003uqw.3_Silent_p.P195P|ZKSCAN5_uc003uqx.3_Intron|ZKSCAN5_uc003uqy.3_5'UTR NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA. 195 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P195L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTTCCCTTCCCCTGAAGGACA 0.532000 55 38 0 0 0.000781405 0 0 SLC25A18 83733 broad.mit.edu 37 22 18064157 18064158 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:18064157_18064158GG>AA uc002zmp.1 + 4 671_672 c.177_178GG>AA c.(175-180)gagggc>gaAAgc p.G60S SLC25A18_uc010gqx.3_Missense_Mutation_p.G60S|SLC25A18_uc002zmq.1_Missense_Mutation_p.G60S NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA. 60 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) CTCGGGCGGAGGGCTTCTTCGG 0.634000 51 22 0 0 6.4e-05 0 0 DTNA 1837 broad.mit.edu 37 18 32374194 32374194 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:32374194C>T uc010dmn.1 + 2 343 c.342C>T c.(340-342)ttC>ttT p.F114F DTNA_uc002kxu.2_Silent_p.F114F|DTNA_uc010xbx.2_Silent_p.F114F|DTNA_uc002kxv.4_Silent_p.F114F|DTNA_uc002kxw.2_Silent_p.F114F|DTNA_uc002kxx.2_Silent_p.F114F|DTNA_uc002kxz.2_Silent_p.F114F|DTNA_uc002kxy.2_Silent_p.F114F|DTNA_uc010dmj.3_Silent_p.F114F|DTNA_uc002kyb.4_Silent_p.F114F|DTNA_uc010dml.3_Silent_p.F114F|DTNA_uc010dmm.3_Silent_p.F114F NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA. 114 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.F114F(5) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TCCTTAACTTCCTGCTTGCAG 0.468000 43 26 0 0 0.000586117 0 0 AQP6 363 broad.mit.edu 37 12 50368136 50368136 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:50368136G>A uc001rvr.1 + 1 1125 c.432G>A c.(430-432)gcG>gcA p.A144A AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_Non-coding_Transcript NM_001652 NP_001643 Q13520 AQP6_HUMAN Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA. 144 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CTGGCCAGGCGGTGGCAGTGG 0.622000 OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 60 0 0 0.000781405 0 0 PPFIA4 8497 broad.mit.edu 37 1 203029523 203029523 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:203029523C>T uc009xaj.3 + 26 3137 c.3137C>T c.(3136-3138)tCt>tTt p.S1046F PPFIA4_uc010pqf.2_Missense_Mutation_p.S628F|PPFIA4_uc001gyz.3_Missense_Mutation_p.S415F|PPFIA4_uc001gza.3_Missense_Mutation_p.S415F|PPFIA4_uc001gzb.1_Missense_Mutation_p.S110F O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 415 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACCAGCCCCTCTGCCCCACCC 0.592000 37 53 0 0 0.000781405 0 0 SLC22A10 387775 broad.mit.edu 37 11 63067081 63067081 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:63067081C>T uc009yor.3 + 5 1258 c.1050C>T c.(1048-1050)atC>atT p.I350I SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.I190I NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 350 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTAAAAGGATCTGTATCCTGG 0.423000 12 6 0 0 8.12818e-05 0 0 POF1B 79983 broad.mit.edu 37 X 84537306 84537306 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:84537306G>A uc004eer.2 - 15 1813 c.1667C>T c.(1666-1668)cCa>cTa p.P556L POF1B_uc004ees.3_Missense_Mutation_p.P556L NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 556 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GCCTAGGATTGGATATTGTGT 0.378000 0 4 0 0 0.000602214 0 0 FAIM 55179 broad.mit.edu 37 3 138351881 138351881 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:138351881T>C uc003esr.3 + 4 760 c.500T>C c.(499-501)cTc>cCc p.L167P FAIM_uc003esq.3_Missense_Mutation_p.L189P|FAIM_uc003esp.3_Missense_Mutation_p.L201P|FAIM_uc003ess.3_Missense_Mutation_p.L167P NM_001033032 NP_060617 Q9NVQ4 FAIM1_HUMAN Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA. 167 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 ATTCATACTCTCATTGTGGAT 0.363000 47 157 0 0 0.000781405 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282952 140282952 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:140282952G>A uc003etn.3 + 15 2822 c.2632G>A c.(2632-2634)Gat>Aat p.D878N NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 878 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGACTGGGACGATTCTGCGCT 0.582000 HNSCC(16;0.037) 23 42 0 0 0.000781405 0 0 METRNL 284207 broad.mit.edu 37 17 81052232 81052232 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:81052232G>A uc002kgh.3 + 3 973 c.848G>A c.(847-849)gGc>gAc p.G283D METRNL_uc002kgi.3_Missense_Mutation_p.G201D NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA. 283 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GCGCGGCTCGGCTGTGCCCCA 0.672000 22 24 0 0 0.000375601 0 0 ASXL3 80816 broad.mit.edu 37 18 31318854 31318854 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:31318854G>A uc010dmg.1 + 10 1541 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K ASXL3_uc002kxq.2_Missense_Mutation_p.E203K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGCACCTCCTGAAGATAACTT 0.388000 20 14 0 0 0.000422831 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6043934 6043934 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:6043934C>T uc010idb.1 - 16 2535 c.2049G>A c.(2047-2049)ggG>ggA p.G683G JAKMIP1_uc010idc.1_Silent_p.G498G|JAKMIP1_uc010idd.1_Intron NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 454 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGGCCTCGGTCCCCTCTATTT 0.557000 44 33 0 0 0.000692331 0 0 FCN1 2219 broad.mit.edu 37 9 137803076 137803076 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:137803076C>T uc004cfi.3 - 7 725 c.636G>A c.(634-636)gaG>gaA p.E212E NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 212 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GGTGGTTGCCCTCAAAGTCCA 0.527000 25 98 0 0 0.000781405 0 0 CALML3 810 broad.mit.edu 37 10 5567427 5567427 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:5567427C>T uc001iie.1 + 0 504 c.379C>T c.(379-381)Cgg>Tgg p.R127W AK128534_uc001iid.1_5'Flank NM_005185 NP_005176 P27482 CALL3_HUMAN Homo sapiens calmodulin-like 3 (CALML3), mRNA. 127 EF-hand 4. calcium ion binding p.R127W(2) endometrium(3)|lung(2) 5 CGAGATGATCCGGGCCGCGGA 0.667000 17 15 0 0 0.000422831 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74715179 74715179 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:74715179C>T uc001dge.2 + 4 556 c.489C>T c.(487-489)taC>taT p.Y163Y FPGT-TNNI3K_uc001dgc.2_Silent_p.Y163Y|FPGT-TNNI3K_uc001dgd.3_Silent_p.Y163Y|FPGT-TNNI3K_uc001dgf.2_Silent_p.Y62Y NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 62 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATTTAAATTACCGCACTGAAA 0.328000 39 23 0 0 0.000878237 0 0 COL11A1 1301 broad.mit.edu 37 1 103352467 103352467 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:103352467G>A uc001dum.3 - 62 5108 c.4790C>T c.(4789-4791)tCc>tTc p.S1597F COL11A1_uc001duk.3_Missense_Mutation_p.S781F|COL11A1_uc001dul.3_Missense_Mutation_p.S1585F|COL11A1_uc001dun.3_Missense_Mutation_p.S1546F|COL11A1_uc009weh.3_Missense_Mutation_p.S1469F NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1585 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTTTCAGGGAATTGAGGGA 0.413000 47 17 0 0 0.00121646 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712962 70712962 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:70712962G>A uc010ttg.2 - 0 1557 c.906C>T c.(904-906)gaC>gaT p.D302D Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. ATTCTGGAAGGTCACATTCAT 0.483000 15 16 0 0 0.00074312 0 0 UPF2 26019 broad.mit.edu 37 10 12021116 12021117 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:12021116_12021117GG>TT uc001ila.3 - 7 2366_2367 c.1892_1893CC>AA c.(1891-1893)ccc>cAA p.P631Q UPF2_uc001ilb.3_Missense_Mutation_p.P631Q|UPF2_uc001ilc.3_Missense_Mutation_p.P631Q|UPF2_uc009xiz.2_Missense_Mutation_p.P631Q NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 631 MIF4G 2. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CAGACATGCAGGGATGCAATGT 0.332000 370 12 0 0 6.4e-05 0 0 RGL1 23179 broad.mit.edu 37 1 183881362 183881362 + Missense_Mutation SNP C T T rs1140534 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:183881362C>T uc001gqm.3 + 15 2275 c.1814C>T c.(1813-1815)tCc>tTc p.S605F RGL1_uc010pof.1_Missense_Mutation_p.S375F|RGL1_uc010pog.2_Missense_Mutation_p.S568F|RGL1_uc010poh.2_Missense_Mutation_p.S568F|RGL1_uc001gqo.3_Missense_Mutation_p.S570F|RGL1_uc010poi.2_Missense_Mutation_p.S541F NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 570 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding p.G604G(1) breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GAGGAGGGCTCCATTACTCCC 0.532000 18 25 0 0 0.000586117 0 0 SPEG 10290 broad.mit.edu 37 2 220356855 220356855 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:220356855T>A uc010fwg.3 + 39 9484 c.9484T>A c.(9484-9486)Tat>Aat p.Y3162N NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 3162 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTCCCCGTTCTATGAGCCAGA 0.577000 24 13 0 0 0.00136819 0 0 NOTCH4 4855 broad.mit.edu 37 6 32170241 32170241 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:32170241G>A uc003obb.3 - 20 3506 c.3367C>T c.(3367-3369)Cct>Tct p.P1123S NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1123 EGF-like 28. 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 AGGCAGTCAGGACCCCCATAG 0.652000 255 121 0 0 0.000781405 0 0 MS4A4A 51338 broad.mit.edu 37 11 60068515 60068515 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:60068515A>G uc001noz.3 + 3 507 c.372A>G c.(370-372)agA>agG p.R124R MS4A4A_uc001npa.3_Silent_p.R105R|MS4A4A_uc001npc.3_Silent_p.R124R NM_148975 NP_076926 Q96JQ5 M4A4A_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA. 124 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CAGGAATTAGAACTACAAAAG 0.313000 23 20 0 0 0.000295444 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555148 44555149 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:44555148_44555149CC>TT uc010xdb.2 - 0 1301_1302 c.1065_1066GG>AA c.(1063-1068)gtggaa>gtAAaa p.E356K KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 356 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGGACCCCTTCCACGTCGCCGA 0.649000 318 24 0 0 6.4e-05 0 0 NEUROG2 63973 broad.mit.edu 37 4 113436414 113436414 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:113436414C>T uc003ias.3 - 1 545 c.218G>A c.(217-219)gGc>gAc p.G73D NEUROG2_uc021xqu.1_Missense_Mutation_p.G73D NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN Homo sapiens neurogenin 2 (NEUROG2), mRNA. 73 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) GGGCCGGCAGCCCTCCGCACC 0.786000 4 5 0 0 0.000602214 0 0 PELP1 27043 broad.mit.edu 37 17 4586150 4586150 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:4586150G>A uc002fyi.4 - 3 744 c.518C>T c.(517-519)tCc>tTc p.S173F PELP1_uc010vsf.2_Missense_Mutation_p.S26F NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 173 transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GTGGTTCATGGAGATGTCCCG 0.652000 7 5 0 0 0.000602214 0 0 CEP72 55722 broad.mit.edu 37 5 639225 639225 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:639225G>A uc003jbf.3 + 7 1300 c.1228G>A c.(1228-1230)Gct>Act p.A410T CEP72_uc011clz.1_Non-coding_Transcript NM_018140 NP_060610 Q9P209 CEP72_HUMAN Homo sapiens centrosomal protein 72kDa (CEP72), mRNA. 410 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GTCACACTCGGCTCTACCCGG 0.642000 30 18 0 0 0.000566183 0 0 OR2A5 393046 broad.mit.edu 37 7 143747613 143747613 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143747613G>A uc011ktw.2 + 0 119 c.119G>A c.(118-120)gGa>gAa p.G40E NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ACCCTGCTGGGAAATGGGGCC 0.512000 28 30 0 0 0.001512 0 0 TMEM63C 57156 broad.mit.edu 37 14 77719684 77719684 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:77719684G>A uc001xtf.2 + 22 2397 c.2185G>A c.(2185-2187)Gag>Aag p.E729K TMEM63C_uc010asq.1_Missense_Mutation_p.E729K NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 729 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GTTTGACATGGAGCCAAGCAG 0.612000 9 9 0 0 0.00136819 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692895 26692895 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:26692895C>T uc003acb.3 + 3 1207 c.1011C>T c.(1009-1011)atC>atT p.I337I SEZ6L_uc003acd.3_Silent_p.I337I|SEZ6L_uc011akd.2_Silent_p.I337I|SEZ6L_uc003ace.3_Silent_p.I337I|SEZ6L_uc011akc.2_Silent_p.I337I|SEZ6L_uc003acc.3_Silent_p.I337I|SEZ6L_uc003acf.1_Silent_p.I110I|SEZ6L_uc010gvc.1_Silent_p.I110I NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 337 CUB 1. endoplasmic reticulum membrane|integral to membrane p.I337T(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGCTCTCCATCCGCGGGGTGG 0.587000 13 11 0 0 0.000219431 0 0 KLHL6 89857 broad.mit.edu 37 3 183217613 183217613 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:183217613G>A uc003flr.3 - 3 970 c.912C>T c.(910-912)atC>atT p.I304I KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA. 304 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTTCCGAAATGATCTGGAAAT 0.522000 10 7 0 0 8.12818e-05 0 0 MYOG 4656 broad.mit.edu 37 1 203055032 203055032 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:203055032C>T uc001gzd.3 - 0 346 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_002479 NP_002470 P15173 MYOG_HUMAN Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA. 20 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 AGGTAGTTTTCCCCATCATAG 0.617000 33 17 0 0 0.00152264 0 0 ITIH1 3697 broad.mit.edu 37 3 52825621 52825621 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52825621G>A uc003dfs.3 + 20 2613 c.2583G>A c.(2581-2583)agG>agA p.R861R ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.R719R|ITIH1_uc021wzg.1_Silent_p.R573R|ITIH1_uc021wzh.1_Silent_p.R573R|ITIH1_uc003dft.3_Intron NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 861 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGGTGGTGAGGAACCGCCGGC 0.582000 19 7 0 0 0.000157383 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41009411 41009411 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:41009411C>T uc003jmj.4 - 31 3881 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N HEATR7B2_uc003jmi.4_Missense_Mutation_p.D686N NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1131 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 GCGATGTCATCTTCTAACTCA 0.502000 31 21 0 0 0.000375601 0 0 FBN2 2201 broad.mit.edu 37 5 127623002 127623002 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:127623002T>C uc003kuu.3 - 53 7317 c.6878A>G c.(6877-6879)aAa>aGa p.K2293R NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 2293 EGF-like 38; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGCCTTACCTTTGCACATCTT 0.438000 58 60 0 0 0.000781405 0 0 SOX10 6663 broad.mit.edu 37 22 38374057 38374057 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38374057T>C uc003aun.1 - 2 792 c.514A>G c.(514-516)Aag>Gag p.K172E AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.K172E NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 172 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GGCTGGTACTTGTAGTCCGGG 0.677000 12 6 0 0 0.00116845 0 0 STOX1 219736 broad.mit.edu 37 10 70645062 70645062 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:70645062G>A uc001jos.2 + 2 1597 c.1510G>A c.(1510-1512)Gga>Aga p.G504R STOX1_uc001joq.3_Missense_Mutation_p.G394R|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.G394R NM_001130161 NP_689922 Q6ZVD7 STOX1_HUMAN Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA. 504 cytoplasm|nucleolus DNA binding p.R503Q(1) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTCTCACCGAGGAAGCACAAT 0.448000 30 13 0 0 0.000151284 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884232 205884232 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:205884232G>A uc001hdp.3 - 21 2566 c.2452C>T c.(2452-2454)Ctg>Ttg p.L818L SLC26A9_uc001hdm.3_Silent_p.L65L|SLC26A9_uc001hdn.3_Silent_p.L65L|SLC26A9_uc001hdo.3_3'UTR|SLC26A9_uc001hdq.3_3'UTR NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) ATTGCGGCCAGGGCCTGACGG 0.612000 43 44 0 0 0.000781405 0 0 GGA2 23062 broad.mit.edu 37 16 23489718 23489718 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:23489718G>A uc002dlq.3 - 12 1346 c.1263C>T c.(1261-1263)ctC>ctT p.L421L GGA2_uc010bxo.2_Non-coding_Transcript NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA. 421 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) GTGCTGAGAGGAGGTCCAGCA 0.587000 37 16 0 0 0.000422831 0 0 XIRP1 165904 broad.mit.edu 37 3 39226980 39226980 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:39226980G>A uc003cjk.2 - 1 4186 c.3957C>T c.(3955-3957)ccC>ccT p.P1319P XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.P2P|XIRP1_uc021wvz.1_Silent_p.P1319P NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1319 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCTTCTTTGGGGGCATGGTGG 0.607000 43 38 0 0 0.000374591 0 0 RAB19 401409 broad.mit.edu 37 7 140125836 140125836 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:140125836C>T uc010lni.2 + 3 738 c.540C>T c.(538-540)atC>atT p.I180I RAB19_uc011krc.1_Silent_p.I180I NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA. 180 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) AGGAGCTGATCGCGCGCAACA 0.577000 44 36 0 0 0.000692331 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586583 15586583 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15586583G>A uc002nbg.3 - 1 1031 c.898C>T c.(898-900)Ctg>Ttg p.L300L PGLYRP2_uc002nbf.4_Silent_p.L300L NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA. 300 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 TACTGGCTCAGCAAGTGGCTG 0.622000 18 19 0 0 0.00074312 0 0 TEP1 7011 broad.mit.edu 37 14 20873656 20873656 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20873656T>C uc001vxe.3 - 3 864 c.824A>G c.(823-825)gAa>gGa p.E275G TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.E275G NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 275 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ACGACAGATTTCAAAAATGGC 0.502000 26 21 0 0 0.00121646 0 0 PTPN4 5775 broad.mit.edu 37 2 120720203 120720203 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:120720203C>T uc002tmf.1 + 23 3063 c.2292C>T c.(2290-2292)caC>caT p.H764H PTPN4_uc010flj.1_Silent_p.H477H|PTPN4_uc010yyr.1_Silent_p.H397H NM_002830 NP_002821 P29074 PTN4_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA. 764 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTAAATGTCACCAATATTGGC 0.303000 14 11 0 0 0.000673444 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677733 37677733 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:37677733G>A uc002ofq.3 - 4 958 c.706C>T c.(706-708)Cat>Tat p.H236Y ZNF585B_uc002ofr.1_Missense_Mutation_p.H50Y NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCCAGTATGAATTTTCTCA 0.408000 51 37 0 0 0.000953801 0 0 SHISA3 152573 broad.mit.edu 37 4 42403133 42403133 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:42403133G>A uc003gwp.3 + 1 600 c.382G>A c.(382-384)Gag>Aag p.E128K NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA. 128 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 GAGACCCAAGGAGCCCTCGCA 0.572000 102 72 0 0 0.000781405 0 0 FST 10468 broad.mit.edu 37 5 52781787 52781787 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:52781787C>T uc003jpd.3 + 5 1317 c.959C>T c.(958-960)tCg>tTg p.S320L FST_uc003jpc.3_3'UTR NM_013409 NP_037541 P19883 FST_HUMAN Homo sapiens follistatin (FST), transcript variant FST344, mRNA. 320 hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CTAGCCATTTCGGAAGACACC 0.448000 54 62 0 0 0.000781405 0 0 IDUA 3425 broad.mit.edu 37 4 995528 995528 + Silent SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:995528G>T uc003gby.3 + 5 739 c.651G>T c.(649-651)cgG>cgT p.R217R IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.R170R NM_000203 NP_000194 P35475 IDUA_HUMAN Homo sapiens iduronidase, alpha-L- (IDUA), mRNA. 217 disaccharide metabolic process lysosome L-iduronidase activity|cation binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CCGCCCTGCGGCTGGGAGGCC 0.711000 9 6 1.06961e-07 6.31189e-07 0.000157383 1 0 DCTD 1635 broad.mit.edu 37 4 183836694 183836694 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:183836694C>T uc003ivf.3 - 1 202 c.28G>A c.(28-30)Gac>Aac p.D10N DCTD_uc003ivg.3_Missense_Mutation_p.D21N|DCTD_uc010irw.3_5'UTR|DCTD_uc003ivh.3_5'UTR NM_001921 NP_001912 P32321 DCTD_HUMAN Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA. 10 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding p.R9L(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) AAATAGTCGTCCCGTTTCTTG 0.408000 128 70 0 0 0.000781405 0 0 LGSN 51557 broad.mit.edu 37 6 63991056 63991056 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:63991056C>T uc003peh.3 - 3 434 c.400G>A c.(400-402)Gaa>Aaa p.E134K LGSN_uc003pei.3_Missense_Mutation_p.E134K NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 134 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TTATTCATTTCATTGTCCTTT 0.393000 13 34 0 0 0.000491102 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333174 42333174 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:42333174T>C uc002igf.4 - 13 1816 c.1667A>G c.(1666-1668)aAc>aGc p.N556S SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 556 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity p.N556N(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CATCAACACGTTGTAGTTATA 0.537000 85 57 0 0 0.000781405 0 0 ABAT 18 broad.mit.edu 37 16 8868910 8868910 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:8868910A>T uc002czc.4 + 12 1284 c.1118A>T c.(1117-1119)aAt>aTt p.N373I ABAT_uc002czd.4_Missense_Mutation_p.N373I|ABAT_uc010buh.3_Missense_Mutation_p.N315I|ABAT_uc010bui.3_Missense_Mutation_p.N373I NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 373 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TTCAGGCCTAATGCTGTGAGT 0.552000 32 31 0 0 0.000409698 0 0 TTC3 7267 broad.mit.edu 37 21 38538329 38538329 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:38538329C>T uc002yvz.3 + 32 3918 c.3813C>T c.(3811-3813)ccC>ccT p.P1271P TTC3_uc011aee.1_Silent_p.P961P|TTC3_uc002ywa.3_Silent_p.P1271P|TTC3_uc002ywb.3_Silent_p.P1271P|TTC3_uc010gnf.3_Silent_p.P1036P|TTC3_uc002ywc.3_Silent_p.P961P|TTC3_uc002ywd.1_Silent_p.P335P NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1271 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATGGGCAACCCAAAGGGGTCT 0.468000 51 41 0 0 0.000374591 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040432 103040432 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:103040432G>A uc002tbx.3 + 3 716 c.232G>A c.(232-234)Gac>Aac p.D78N IL18RAP_uc010fiz.3_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 78 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGGTAGTAACGACCTATCTGA 0.438000 9 8 0 0 0.000274275 0 0 OR52R1 119695 broad.mit.edu 37 11 4825248 4825248 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:4825248C>T uc021qcs.1 - 0 363 c.363G>A c.(361-363)atG>atA p.M121I NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCAGGGCCATAGCCATGA 0.537000 6 20 0 0 0.00121646 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993243 140993243 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:140993243C>T uc004fbt.3 + 3 377 c.53C>T c.(52-54)tCc>tTc p.S18F MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 18 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCAGAGTTCCTCTGAGAGT 0.547000 HNSCC(15;0.026) 4 31 0 0 0.00058488 0 0 FAM113B 91523 broad.mit.edu 37 12 47629825 47629825 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:47629825C>T uc001rpq.3 + 1 1504 c.979C>T c.(979-981)Cac>Tac p.H327Y FAM113B_uc001rpn.3_Missense_Mutation_p.H327Y|FAM113B_uc021qxi.1_Missense_Mutation_p.H327Y NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 327 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) cATTCTCCATCACCAGGGAAT 0.597000 14 70 0 0 0.000781405 0 0 GLRA3 8001 broad.mit.edu 37 4 175649849 175649849 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:175649849C>T uc003ity.1 - 4 771 c.268_splice c.e4-1 p.D90_splice GLRA3_uc003itz.1_Splice_Site_p.D90_splice NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 90 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) ACTCTGTAATCCTATGATAAA 0.398000 25 11 0 0 0.00136819 0 0 LRRC48 83450 broad.mit.edu 37 17 17881042 17881042 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:17881042G>A uc021trj.1 + 3 509 c.130G>A c.(130-132)Gat>Aat p.D44N LRRC48_uc010vxe.2_Missense_Mutation_p.D44N|LRRC48_uc021tri.1_Missense_Mutation_p.D44N|LRRC48_uc021trk.1_Missense_Mutation_p.D44N NM_001130090 NP_112584 Q9H069 LRC48_HUMAN Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA. 44 cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) CCTCTTCAAGGATGTCCTGTC 0.627000 19 13 0 0 0.000151284 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546307 112546307 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:112546307G>A uc003dzi.1 - 2 563 c.337C>T c.(337-339)Cgt>Tgt p.R113C CD200R1L_uc010hqf.1_Missense_Mutation_p.R92C|CD200R1L_uc011bhw.1_Missense_Mutation_p.R92C NM_001008784 NP_001186144 Q6Q8B3 MO2R2_HUMAN Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA. 113 Ig-like V-type. R -> L (in dbSNP:rs4682119). integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TCCACCGGACGAATCTGAAGG 0.458000 30 33 0 0 0.000491102 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095234 69095234 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:69095234C>T uc003hdw.4 - 8 823 c.687_splice c.e8-1 p.K229_splice NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 229 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AATTATTTTTCCTAGAGGACA 0.323000 15 11 0 0 0.000978159 0 0 RYR2 6262 broad.mit.edu 37 1 237774182 237774182 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:237774182C>T uc001hyl.1 + 35 4924 c.4804C>T c.(4804-4806)Cag>Tag p.Q1602* NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1602 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGCCCAACCAGTTTTTGAA 0.537000 7 16 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9072091G>A uc002mkp.3 - 2 15559 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5121 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTATAGAAGGAAAAATTTCC 0.453000 25 28 0 0 0.00106085 0 0 OR8G2 26492 broad.mit.edu 37 11 124095622 124095622 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:124095622C>T uc010saf.2 + 0 225 c.225C>T c.(223-225)ttC>ttT p.F75F NM_001007249 NP_001007250 Q8N0Y1 Q8N0Y1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA. 75 integral to membrane olfactory receptor activity Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TGTACTATTTCCTCAGTGGTC 0.463000 15 35 0 0 0.000814825 0 0 LIPG 9388 broad.mit.edu 37 18 47107876 47107876 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:47107876C>T uc002ldv.3 + 5 1137 c.885C>T c.(883-885)ttC>ttT p.F295F LIPG_uc002ldu.1_Silent_p.F295F|LIPG_uc010xdh.2_Silent_p.F221F NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN Homo sapiens lipase, endothelial (LIPG), mRNA. 295 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GTTTTGCCTTCCAGTGCACTG 0.498000 77 55 0 0 0.000781405 0 0 C17orf28 283987 broad.mit.edu 37 17 72954844 72954844 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:72954844G>A uc002jmj.4 - 9 1313 c.1164C>T c.(1162-1164)ttC>ttT p.F388F C17orf28_uc010wrs.2_Silent_p.F187F NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 388 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) TCTTCAGCACGAAGAAGAGGA 0.612000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 15 0 0 0.000422831 0 0 FAM24A 118670 broad.mit.edu 37 10 124672372 124672372 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:124672372G>A uc001lgv.3 + 2 341 c.220G>A c.(220-222)Gag>Aag p.E74K NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA. 74 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CACCACCATGGAGTCTTGTCC 0.512000 33 31 0 0 0.000409698 0 0 ZNF695 57116 broad.mit.edu 37 1 247151424 247151424 + Silent SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247151424C>A uc009xgu.3 - 3 578 c.393G>T c.(391-393)gtG>gtT p.V131V ZNF695_uc001ica.3_Splice_Site|ZNF695_uc001icb.2_Splice_Site|ZNF695_uc009xgt.2_Splice_Site|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 131 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCCACTCACCCACAATTTCCC 0.403000 535 11 0.00136819 0.00798609 0.00136819 1 0 NALCN 259232 broad.mit.edu 37 13 101717857 101717857 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:101717857C>T uc001vox.1 - 39 4692 c.4503G>A c.(4501-4503)ctG>ctA p.L1501L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1501 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGTCCACCTCCAGCCTCCCAC 0.577000 30 26 0 0 0.000586117 0 0 PTPRS 5802 broad.mit.edu 37 19 5212122 5212122 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:5212122G>A uc002mbv.3 - 31 5143 c.4909C>T c.(4909-4911)Cag>Tag p.Q1637* PTPRS_uc002mbu.1_Nonsense_Mutation_p.Q1206*|PTPRS_uc010xin.2_Nonsense_Mutation_p.Q1179*|PTPRS_uc002mbw.3_Nonsense_Mutation_p.Q1599*|PTPRS_uc002mbx.3_Nonsense_Mutation_p.Q1194*|PTPRS_uc002mby.3_Nonsense_Mutation_p.Q1190* NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1637 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AAGCTGTACTGGTCCTCCGTC 0.602000 29 30 0 0 0.00111076 0 0 TAF1L 138474 broad.mit.edu 37 9 32631150 32631150 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:32631150C>T uc003zrg.1 - 0 4518 c.4428G>A c.(4426-4428)gcG>gcA p.A1476A AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1476 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATTGTAGGTCGCACTGTTTT 0.428000 19 55 0 0 0.000781405 0 0 TRPC6 7225 broad.mit.edu 37 11 101374881 101374881 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:101374881C>T uc001pgk.4 - 1 1244 c.819G>A c.(817-819)agG>agA p.R273R TRPC6_uc009ywy.3_Silent_p.R273R|TRPC6_uc009ywz.1_Silent_p.R273R NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 273 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGGCATTAATCCTAGATCTGG 0.463000 39 23 0 0 0.000586117 0 0 OBSCN 84033 broad.mit.edu 37 1 228503687 228503687 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:228503687G>A uc009xez.1 + 49 13196 c.13152G>A c.(13150-13152)gaG>gaA p.E4384E OBSCN_uc001hsn.3_Silent_p.E4384E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4384 Ig-like 45. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACACCTCGGAGAACGCCGAGG 0.677000 6 9 0 0 0.000673444 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725993 168725993 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:168725993C>T uc021vsc.1 + 0 444 c.444C>T c.(442-444)tcC>tcT p.S148S B3GALT1_uc002udz.1_Silent_p.S148S NM_020981 NP_066191 Q9Y5Z6 B3GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA. 148 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TTATTGACTCCTACCATAACC 0.433000 29 18 0 0 0.00121646 0 0 POLE 5426 broad.mit.edu 37 12 133225520 133225520 + Missense_Mutation SNP G A A rs5744904 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:133225520G>A uc001uks.1 - 31 4188 c.4144C>T c.(4144-4146)Cgc>Tgc p.R1382C POLE_uc001ukr.1_Missense_Mutation_p.R186C|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.R1355C NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1382 R -> C (in dbSNP:rs5744904). DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCTACCTTGCGATACGAAGCA 0.602000 DNA polymerases (catalytic subunits) 9 55 0 0 0.000781405 0 0 SNRPN 6638 broad.mit.edu 37 15 25220561 25220561 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:25220561C>T uc021sgb.1 + 2 1111 c.69C>T c.(67-69)atC>atT p.I23I SNRPN_uc001ywp.1_Silent_p.I20I|SNRPN_uc001ywq.1_Silent_p.I20I|SNRPN_uc001ywr.1_Silent_p.I20I|SNRPN_uc001yws.1_Silent_p.I20I|SNRPN_uc001ywt.1_Silent_p.I20I|SNRPN_uc001ywy.1_Silent_p.I20I|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Silent_p.I20I NM_022808 NP_073719 P63162 RSMN_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA. 20 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding p.D23Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TGAGATGTATCCTGCAAGATG 0.423000 Prader-Willi syndrome 60 33 0 0 0.00058488 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140755684 140755684 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140755684C>T uc003ljy.2 + 0 2034 c.2034C>T c.(2032-2034)ctC>ctT p.L678L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.L678L NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 682 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCAGCCTCGAGCCCTCCG 0.687000 34 28 0 0 0.000814825 0 0 SDPR 8436 broad.mit.edu 37 2 192701073 192701073 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:192701073C>T uc002utb.3 - 1 1209 c.854G>A c.(853-855)gGa>gAa p.G285E NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 285 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GGAGCTTTTTCCTGAGGATAT 0.458000 83 73 0 0 0.000781405 0 0 TRIM55 84675 broad.mit.edu 37 8 67086746 67086746 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:67086746C>T uc003xvv.3 + 9 1791 c.1565C>T c.(1564-1566)gCt>gTt p.A522V TRIM55_uc003xvu.3_3'UTR|TRIM55_uc003xvw.3_Missense_Mutation_p.A426V|TRIM55_uc003xvx.3_Missense_Mutation_p.A215V NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 522 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CAGGCTGCAGCTCCAGCGAGT 0.478000 55 21 0 0 0.000295444 0 0 ADCY10 55811 broad.mit.edu 37 1 167829070 167829070 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:167829070A>G uc001ger.3 - 15 2169 c.1871T>C c.(1870-1872)aTa>aCa p.I624T ADCY10_uc010plj.2_Missense_Mutation_p.I471T|ADCY10_uc009wvk.3_Missense_Mutation_p.I532T|ADCY10_uc009wvl.3_Missense_Mutation_p.I623T NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 624 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CATAAACAATATTTCCAATTG 0.398000 121 208 0 0 0.000781405 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111600674 111600674 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:111600674C>T uc003kpv.1 - 5 747 c.473G>A c.(472-474)gGa>gAa p.G158E EPB41L4A_uc003kpw.1_Missense_Mutation_p.G158E NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 158 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGATACATATCCTGCAGTATG 0.333000 85 50 0 0 0.000781405 0 0 NOL6 65083 broad.mit.edu 37 9 33468751 33468751 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:33468751C>T uc003zsz.3 - 8 1248 c.1147_splice c.e8+1 p.A383_splice NOL6_uc003zta.3_Splice_Site_p.A383_splice|NOL6_uc010mjv.3_Splice_Site_p.D383_splice|NOL6_uc011lob.2_Splice_Site_p.A323_splice|NOL6_uc003ztb.1_Splice_Site_p.A383_splice NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 383 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TTGCCTCACCCAGAAACTGCA 0.527000 15 77 0 0 0.000781405 0 0 GPS2 2874 broad.mit.edu 37 17 7229762 7229762 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7229762G>A uc002gga.1 - 4 1205 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* GPS2_uc002ggb.1_Nonsense_Mutation_p.Q400*|GPS2_uc002ggc.1_5'UTR NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GTACCTGACTGGAGGTTGGTC 0.597000 42 40 0 0 0.000374591 0 0 OR4B1 119765 broad.mit.edu 37 11 48239049 48239049 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:48239049G>A uc010rhs.2 + 0 688 c.688G>A c.(688-690)Ggg>Agg p.G230R NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TTCTGCAGAGGGGAGGCACAA 0.468000 10 6 0 0 8.12818e-05 0 0 SLC1A6 6511 broad.mit.edu 37 19 15072936 15072936 + Silent SNP G A A rs2301853 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15072936G>A uc002naa.1 - 4 820 c.813C>T c.(811-813)ctC>ctT p.L271L SLC1A6_uc010dzu.1_Silent_p.L271L|SLC1A6_uc010xod.1_Silent_p.L207L|SLC1A6_uc002nab.3_Silent_p.L271L|SLC1A6_uc002nac.3_Silent_p.L271L NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 271 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AGAAGACCACGAGGCCCAGGG 0.562000 46 30 0 0 0.000491102 0 0 TTN 7273 broad.mit.edu 37 2 179638821 179638821 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179638821G>A uc021vsy.1 - 30 7299 c.7074C>T c.(7072-7074)atC>atT p.I2358I TTN_uc021vsz.1_Silent_p.I2312I|TTN_uc021vta.1_Silent_p.I2312I|TTN_uc021vtb.1_Silent_p.I2312I|TTN_uc002unb.2_Silent_p.I2358I|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2358 Ig-like 13. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCCTTGTAGGATAGCAATGG 0.423000 33 12 0 0 0.000308642 0 0 TBX4 9496 broad.mit.edu 37 17 59557462 59557462 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:59557462C>T uc010ddo.3 + 7 966 c.803C>T c.(802-804)cCc>cTc p.P268L TBX4_uc002izi.3_Missense_Mutation_p.P268L|TBX4_uc010woy.2_Missense_Mutation_p.P268L NM_018488 NP_060958 P57082 TBX4_HUMAN Homo sapiens T-box 4 (TBX4), mRNA. 268 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AAAGAATACCCCGTGATTTCC 0.597000 47 68 0 0 0.000781405 0 0 USP19 10869 broad.mit.edu 37 3 49149058 49149058 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:49149058C>T uc003cwd.2 - 19 3102 c.2783G>A c.(2782-2784)cGg>cAg p.R928Q USP19_uc003cwa.3_Missense_Mutation_p.R736Q|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1031Q|USP19_uc011bcg.2_Missense_Mutation_p.R1019Q|USP19_uc003cwc.2_Missense_Mutation_p.R686Q|USP19_uc011bch.2_Missense_Mutation_p.R1029Q NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 928 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.Y928*(2) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGCCCACACCCGGGGAAGCCC 0.642000 22 15 0 0 0.000566183 0 0 TC2N 123036 broad.mit.edu 37 14 92268723 92268723 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:92268723G>A uc001xzu.4 - 3 535 c.344C>T c.(343-345)tCc>tTc p.S115F TC2N_uc001xzt.4_Missense_Mutation_p.S115F|TC2N_uc010auc.3_Missense_Mutation_p.S115F|TC2N_uc001xzv.4_Missense_Mutation_p.S115F NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 115 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GGATGAACTGGAAAGTTCTAC 0.413000 31 11 0 0 0.000219431 0 0 DCHS2 54798 broad.mit.edu 37 4 155312327 155312327 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:155312327C>T uc003inw.2 - 0 123 c.123G>A c.(121-123)gtG>gtA p.V41V DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 41 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCTGAGATTTCACAATGGAAT 0.323000 20 4 0 0 0.00024832 0 0 EPN1 29924 broad.mit.edu 37 19 56206167 56206167 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:56206167C>T uc002qlw.3 + 9 1682 c.1340C>T c.(1339-1341)tCt>tTt p.S447F EPN1_uc002qlv.3_Missense_Mutation_p.S421F|EPN1_uc010etd.3_Missense_Mutation_p.S446F|EPN1_uc002qlx.3_Missense_Mutation_p.S533F NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA. 447 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GTCAGGGGATCTCTGGCTGAG 0.687000 20 10 0 0 0.000673444 0 0 RPL4 6124 broad.mit.edu 37 15 66794245 66794245 + Missense_Mutation SNP G A A rs138828871 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:66794245G>A uc002apv.3 - 4 492 c.427C>T c.(427-429)Cgt>Tgt p.R143C RPL4_uc002apx.3_Missense_Mutation_p.R49C|RPL4_uc010ujq.2_Missense_Mutation_p.R143C|RPL4_uc010bhs.1_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN Homo sapiens ribosomal protein L4 (RPL4), mRNA. 143 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 TCCTCAATACGATGACCTAAC 0.338000 32 30 0 0 0.00178596 0 0 RBM12 10137 broad.mit.edu 37 20 34243230 34243230 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:34243230G>A uc021wcr.1 - 0 15 c.15C>T c.(13-15)atC>atT p.I5I CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_5'UTR|CPNE1_uc002xdf.3_5'UTR|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript|RBM12_uc002xdq.3_Silent_p.I5I|RBM12_uc002xds.3_Silent_p.I5I|RBM12_uc002xdr.3_Silent_p.I5I|RBM12_uc021wcq.1_Silent_p.I5I NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 5 nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTTGCAAACGGATGACCACAG 0.527000 OREG0004046 type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 15 0 0 0.00121646 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55890037C>T uc001nii.1 + 0 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F63V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 27 33 0 0 0.00111076 0 0 PIGR 5284 broad.mit.edu 37 1 207105032 207105032 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:207105032G>A uc001hez.3 - 8 2308 c.2124C>T c.(2122-2124)tcC>tcT p.S708S PIGR_uc009xbz.3_Silent_p.S708S NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 708 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTCCTCCGAGGGATGTCTCCT 0.507000 46 59 0 0 0.000781405 0 0 NUP205 23165 broad.mit.edu 37 7 135282938 135282939 + Missense_Mutation DNP CG AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:135282938_135282939CG>AT uc003vsw.3 + 14 2288_2289 c.2257_2258CG>AT c.(2257-2259)cgg>ATg p.R753M NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 753 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AAGAGCTTACCGGAGAGCAGCT 0.411000 112 5 0 0 6.4e-05 0 0 MS4A3 932 broad.mit.edu 37 11 59837105 59837105 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:59837105C>T uc001nom.3 + 5 700 c.572C>T c.(571-573)aCc>aTc p.T191I MS4A3_uc001non.3_Missense_Mutation_p.T145I|MS4A3_uc001noo.3_Missense_Mutation_p.T68I NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA. 191 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) ACCATCTCTACCATAGCCATG 0.433000 158 143 0 0 0.000781405 0 0 SEMG2 6407 broad.mit.edu 37 20 43851778 43851778 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:43851778T>C uc010ggz.3 + 1 1562 c.1505T>C c.(1504-1506)gTa>gCa p.V502A SEMG2_uc002xnk.3_Missense_Mutation_p.V502A|SEMG2_uc002xnl.3_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 502 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GAAAAGCTAGTAGAAGGCAAG 0.398000 22 10 0 0 0.000442599 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058080 46058080 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:46058080C>T uc002zfq.3 + 0 808 c.746C>T c.(745-747)tCc>tTc p.S249F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA. 249 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 GGCCAGAAGTCCAGCTGCTGA 0.672000 17 14 0 0 0.00074312 0 0 IGSF10 285313 broad.mit.edu 37 3 151160963 151160963 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:151160963A>G uc011bod.2 - 4 5772 c.5772T>C c.(5770-5772)ggT>ggC p.G1924G IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 1924 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCGCTCCGAACCAGTGGAAC 0.443000 57 28 0 0 0.000409698 0 0 SGIP1 84251 broad.mit.edu 37 1 67155970 67155970 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:67155970C>T uc001dcr.3 + 16 1758 c.1541C>T c.(1540-1542)tCc>tTc p.S514F SGIP1_uc010opd.2_Missense_Mutation_p.S114F|SGIP1_uc001dcs.3_Missense_Mutation_p.S114F|SGIP1_uc001dct.3_Missense_Mutation_p.S114F|SGIP1_uc009wat.3_Missense_Mutation_p.S308F NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 514 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TCAACCAATTCCTTGAGCGCA 0.468000 47 50 0 0 0.000781405 0 0 NBR1 4077 broad.mit.edu 37 17 41343492 41343492 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:41343492C>T uc010whv.2 + 9 1050 c.967C>T c.(967-969)Ctt>Ttt p.L323F NBR1_uc010czd.3_Missense_Mutation_p.L323F|NBR1_uc010diz.3_Missense_Mutation_p.L323F|NBR1_uc010whu.2_Missense_Mutation_p.L323F|NBR1_uc010whw.2_Missense_Mutation_p.L302F|NBR1_uc010whx.1_Missense_Mutation_p.L132F NM_005899 NP_114068 Q14596 NBR1_HUMAN Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA. 323 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TAAAAAGCAGCTTAAACTCCA 0.438000 12 10 0 0 0.000673444 0 0 HSD17B6 8630 broad.mit.edu 37 12 57178749 57178749 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:57178749G>A uc001smg.1 + 3 795 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_003725 NP_003716 O14756 H17B6_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA. 229 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) AAGTTGGAAAGAAGCCCCCAA 0.423000 14 85 0 0 0.000781405 0 0 GPR98 84059 broad.mit.edu 37 5 90046514 90046514 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:90046514G>A uc003kju.3 + 53 11217 c.11121_splice c.e53+1 p.V3707_splice GPR98_uc003kjt.3_Splice_Site_p.V1413_splice|GPR98_uc003kjv.3_Splice_Site_p.V1307_splice NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3707 Calx-beta 24. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTCAGGAGTGGTATGTAATT 0.368000 78 47 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179537416 179537416 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179537416G>A uc021vsy.1 - 147 31123 c.30898C>T c.(30898-30900)Cct>Tct p.P10300S MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6961S|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11227 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCCTCAGGAATTTTCTTT 0.373000 2 3 0 0 0.00024832 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556877 45556877 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:45556877G>A uc001zva.2 + 6 678 c.613G>A c.(613-615)Ggc>Agc p.G205S NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 205 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity p.S204S(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGTGTTTTCGGGCCTAGGTCT 0.418000 39 28 0 0 0.00128727 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153402 133153402 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:133153402G>A uc003ytj.3 - 9 1664 c.1439C>T c.(1438-1440)gCc>gTc p.A480V KCNQ3_uc003yti.3_Missense_Mutation_p.A360V|KCNQ3_uc010mdt.3_Missense_Mutation_p.A480V NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 480 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GAAAGCGTAGGCTTTCATGCG 0.483000 48 34 0 0 0.00111076 0 0 ZFHX3 463 broad.mit.edu 37 16 72829797 72829797 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:72829797C>T uc002fck.3 - 8 7457 c.6784G>A c.(6784-6786)Gat>Aat p.D2262N ZFHX3_uc002fcl.3_Missense_Mutation_p.D1348N NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 2262 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCATTGGCATCGAAGAAGTCC 0.488000 91 66 0 0 0.000781405 0 0 IL12B 3593 broad.mit.edu 37 5 158753751 158753751 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:158753751C>T uc003lxr.1 - 1 82 c.40G>A c.(40-42)Gtt>Att p.V14I NM_002187 NP_002178 P29460 IL12B_HUMAN Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA. 14 T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAGAAAAACCAGGGAAAAC 0.488000 40 26 0 0 0.001512 0 0 OR6K6 128371 broad.mit.edu 37 1 158725383 158725383 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158725383G>A uc001fsw.1 + 0 778 c.778G>A c.(778-780)Ggt>Agt p.G260S NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CTCAGCTGAAGGTCATCACAA 0.473000 74 34 0 0 0.000953801 0 0 NF1 4763 broad.mit.edu 37 17 29509615 29509615 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:29509615C>T uc002hgg.3 + 7 1203 c.820C>T c.(820-822)Ctt>Ttt p.L274F NF1_uc002hge.2_Missense_Mutation_p.L274F|NF1_uc002hgf.2_Missense_Mutation_p.L274F|NF1_uc002hgh.3_Missense_Mutation_p.L274F|NF1_uc010csn.2_Missense_Mutation_p.L134F NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 274 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4)|p.L274R(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATCATTCTCCTTATCTTGTG 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 22 21 0 0 0.00152264 0 0 DNAH3 55567 broad.mit.edu 37 16 21048047 21048047 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:21048047T>C uc010vbe.2 - 34 5074 c.5074A>G c.(5074-5076)Aaa>Gaa p.K1692E NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1692 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGATAATTTTCCCTATAAAC 0.383000 60 40 0 0 0.000680045 0 0 MKX 283078 broad.mit.edu 37 10 28023534 28023534 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:28023534G>A uc001ity.4 - 4 914 c.689C>T c.(688-690)tCt>tTt p.S230F MKX_uc001itx.4_Missense_Mutation_p.S230F NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 230 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 ATGTCTCAAAGAGTCATTAAG 0.478000 31 22 0 0 0.000229342 0 0 GTSF1 121355 broad.mit.edu 37 12 54856432 54856432 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:54856432C>T uc001sgb.3 - 4 408 c.322G>A c.(322-324)Gat>Aat p.D108N NM_144594 NP_653195 Q8WW33 GTSF1_HUMAN Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA. 108 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TCACCTTTATCCCAGTCTTCA 0.423000 31 147 0 0 0.000781405 0 0 PDE8B 8622 broad.mit.edu 37 5 76645346 76645346 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:76645346C>T uc003kfa.3 + 7 1024 c.979C>T c.(979-981)Ctt>Ttt p.L327F PDE8B_uc003kfd.3_Intron|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.L307F|PDE8B_uc003kfc.3_Missense_Mutation_p.L327F NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 327 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCGGGCAGACCTTCTCGACAC 0.493000 75 47 0 0 0.000781405 0 0 TLN2 83660 broad.mit.edu 37 15 62993384 62993384 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:62993384G>A uc002alb.4 + 13 1667 c.1667G>A c.(1666-1668)gGa>gAa p.G556E NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 556 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.G556A(2) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ATCACGGCCGGAACGGCTTCA 0.433000 30 22 0 0 0.000229342 0 0 ADAM32 203102 broad.mit.edu 37 8 39091502 39091502 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:39091502C>T uc003xmt.4 + 15 1964 c.1719C>T c.(1717-1719)ttC>ttT p.F573F ADAM32_uc011lch.2_Silent_p.F474F|ADAM32_uc003xmu.4_Silent_p.F467F|ADAM32_uc003xmv.3_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 573 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTTATGCTTTCGTACGAGATT 0.393000 8 5 0 0 0.000602214 0 0 DIDO1 11083 broad.mit.edu 37 20 61511988 61511988 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:61511988G>A uc002ydr.2 - 15 5632 c.5320C>T c.(5320-5322)Cca>Tca p.P1774S DIDO1_uc002yds.2_Missense_Mutation_p.P1774S NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1774 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGCCCCCTTGGTCCCGGGAAA 0.627000 40 29 0 0 0.001512 0 0 C5orf34 375444 broad.mit.edu 37 5 43488032 43488032 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:43488032C>T uc003jnz.2 - 11 2101 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K NM_198566 NP_940968 Q96MH7 CE034_HUMAN Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA. 567 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TGTATCTTTTCAAGTTCAGAA 0.323000 11 10 0 0 0.000442599 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808644 18808644 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:18808644C>T uc001bax.3 + 0 1221 c.1169C>T c.(1168-1170)cCa>cTa p.P390L KLHDC7A_uc009vpg.3_Missense_Mutation_p.P172L NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 390 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCACCCTGCCCAGACCCGGGC 0.667000 21 17 0 0 0.000958276 0 0 CD180 4064 broad.mit.edu 37 5 66479238 66479238 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:66479238C>T uc003juy.2 - 2 1581 c.1433G>A c.(1432-1434)gGg>gAg p.G478E NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 478 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AAAGTGATTCCCTTTTAAGTT 0.463000 54 33 0 0 0.00178596 0 0 ADORA3 140 broad.mit.edu 37 1 112106514 112106514 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:112106514C>T uc001ebg.4 - 0 84 c.61G>A c.(61-63)Gaa>Aaa p.E21K RAP1A_uc001ebi.3_Intron NM_001081976 NP_001075445 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 3, mRNA. 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGCTGCTCTTCCCAGGAGCTT 0.557000 69 48 0 0 0.000781405 0 0 MORC1 27136 broad.mit.edu 37 3 108682267 108682267 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:108682267G>A uc003dxl.3 - 26 2880 c.2793C>T c.(2791-2793)ctC>ctT p.L931L MORC1_uc011bhn.2_Silent_p.L910L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 931 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TCACCAGTTGGAGTTTCTGCA 0.378000 37 18 0 0 0.000295444 0 0 OR51M1 390059 broad.mit.edu 37 11 5411135 5411135 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:5411135C>T uc010qzc.2 + 0 529 c.507C>T c.(505-507)atC>atT p.I169I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 169 integral to membrane olfactory receptor activity p.I169>?(2) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCCACTATCCCTATTGTCC 0.547000 24 136 0 0 0.000781405 0 0 CDH16 1014 broad.mit.edu 37 16 66944275 66944275 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66944275G>A uc002eql.3 - 14 2249 c.2055C>T c.(2053-2055)atC>atT p.I685I CDH16_uc010cdy.3_Silent_p.I663I|CDH16_uc021tjx.1_Silent_p.I646I|CDH16_uc002eqm.3_Silent_p.I588I NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 685 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCCACTCACGATCAAGCCAT 0.637000 56 29 0 0 0.000491102 0 0 IL1A 3552 broad.mit.edu 37 2 113535611 113535611 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:113535611G>A uc002tig.3 - 5 1528 c.568C>T c.(568-570)Caa>Taa p.Q190* NM_000575 NP_000566 P01583 IL1A_HUMAN Homo sapiens interleukin 1, alpha (IL1A), mRNA. 190 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 ACATACAATTGAGTTTTTGAG 0.378000 31 19 0 0 0.00121646 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726061 53726062 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:53726061_53726062GG>AA uc002ehp.3 - 3 509_510 c.445_446CC>TT c.(445-447)cca>TTa p.P149L RPGRIP1L_uc002eho.4_Missense_Mutation_p.P149L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P149L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P149L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P149L|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.P149L NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 149 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATTATTGTATGGAGTTTGCCTG 0.396000 350 202 0 0 6.4e-05 0 0 UNC13C 440279 broad.mit.edu 37 15 54306557 54306557 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:54306557C>T uc021smr.1 + 0 1457 c.1457C>T c.(1456-1458)tCa>tTa p.S486L UNC13C_uc021sms.1_Missense_Mutation_p.S486L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 486 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGCTCAAAATCACACAGTGCT 0.378000 18 13 0 0 0.00136819 0 0 WNK4 65266 broad.mit.edu 37 17 40939866 40939866 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:40939866C>T uc002ibj.3 + 7 1880 c.1812C>T c.(1810-1812)ccC>ccT p.P604P WNK4_uc010wgx.2_Silent_p.P268P|WNK4_uc002ibk.1_Silent_p.P376P|WNK4_uc010wgy.1_Intron NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 604 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCTTCAGCCCCCTGGGGGGG 0.637000 47 26 0 0 0.000720815 0 0 SPTA1 6708 broad.mit.edu 37 1 158614107 158614107 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158614107G>A uc001fst.1 - 29 4473 c.4274C>T c.(4273-4275)tCc>tTc p.S1425F NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1425 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACTGTCTAAGGAACTTTTGTC 0.423000 10 17 0 0 0.00074312 0 0 OR2T8 343172 broad.mit.edu 37 1 248084465 248084466 + Nonsense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248084465_248084466GG>AA uc010pzc.2 + 0 146_147 c.146_147GG>AA c.(145-147)tgg>tAA p.W49* NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA. 49 W -> R (in dbSNP:rs11204564). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H48H(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTGATTCACTGGGACCACCGGC 0.525000 48 13 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179558353 179558353 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179558353A>G uc021vsy.1 - 115 28070 c.27845T>C c.(27844-27846)gTt>gCt p.V9282A TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5943A|TTN_uc010fre.1_Missense_Mutation_p.V393A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10209 Ig-like 76. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTGGTTCAACCCTTTTGGA 0.284000 8 12 0 0 0.000308642 0 0 USH2A 7399 broad.mit.edu 37 1 215847652 215847652 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:215847652C>T uc001hku.1 - 62 13988 c.13601G>A c.(13600-13602)gGg>gAg p.G4534E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4534 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.S4533S(1) 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) AGGTTCCATCCCTGAGGGTGC 0.507000 HNSCC(13;0.011) 38 58 0 0 0.000781405 0 0 MARCH2 51257 broad.mit.edu 37 19 8503361 8503361 + Silent SNP C A A rs143906987 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:8503361C>A uc002mjv.3 + 5 1113 c.672C>A c.(670-672)ccC>ccA p.P224P MARCH2_uc002mjw.3_Silent_p.P224P|MARCH2_uc002mjx.3_Silent_p.P154P NM_016496 NP_057580 Q9P0N8 MARH2_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA. 224 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 CGGACAGCCCCGAGGGCCCCC 0.612000 29 21 1.22574e-08 7.25446e-08 0.000295444 1 0 GOLIM4 27333 broad.mit.edu 37 3 167745545 167745545 + Silent SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:167745545G>T uc011bpe.1 - 11 1941 c.1597C>A c.(1597-1599)Cga>Aga p.R533R GOLIM4_uc003ffe.2_Silent_p.R532R|GOLIM4_uc011bpf.1_Silent_p.R505R|GOLIM4_uc011bpg.1_Silent_p.R504R NM_014498 NP_055313 O00461 GOLI4_HUMAN Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA. 532 Glu-rich. transport Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus p.R532R(2) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCGGCTTCTCGGGGTCCTTGT 0.468000 143 8 0.000978159 0.00572191 0.000978159 1 0 ZNF83 55769 broad.mit.edu 37 19 53116680 53116680 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53116680T>C uc002pzu.4 - 1 2382 c.1138A>G c.(1138-1140)Aaa>Gaa p.K380E ZNF83_uc002pzv.4_Missense_Mutation_p.K380E|ZNF83_uc010eps.3_Missense_Mutation_p.K352E|ZNF83_uc010ept.3_Missense_Mutation_p.K380E|ZNF83_uc010epu.3_Missense_Mutation_p.K380E|ZNF83_uc010epw.3_Missense_Mutation_p.K380E|ZNF83_uc010epv.3_Missense_Mutation_p.K380E|ZNF83_uc010epx.3_Missense_Mutation_p.K352E|ZNF83_uc010epy.3_Missense_Mutation_p.K380E|ZNF83_uc010epz.3_Missense_Mutation_p.K352E|ZNF83_uc010eqb.2_Missense_Mutation_p.K352E|ZNF83_uc021uyx.1_Missense_Mutation_p.K380E NM_018300 NP_060770 P51522 ZNF83_HUMAN Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA. 380 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTGAATGCTTTGTCACATTCA 0.383000 46 28 0 0 0.000339439 0 0 HCN1 348980 broad.mit.edu 37 5 45262144 45262144 + Missense_Mutation SNP G C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:45262144G>C uc003jok.3 - 7 2577 c.2552C>G c.(2551-2553)cCc>cGc p.P851R NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 851 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCGGTTCGGGGGGATGGCTCC 0.642000 36 30 0 0 0.00178596 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722081 64722081 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:64722081C>T uc010nko.3 + 4 1570 c.1503C>T c.(1501-1503)ccC>ccT p.P501P NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA. 490 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCATTTCCCCCACCAGAAGG 0.567000 13 47 0 0 0.000781405 0 0 ALPL 249 broad.mit.edu 37 1 21889735 21889735 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:21889735G>A uc001bet.3 + 4 687 c.430G>A c.(430-432)Ggg>Agg p.G144R ALPL_uc010odo.2_Missense_Mutation_p.G89R|ALPL_uc010odp.2_Missense_Mutation_p.G67R|ALPL_uc010odn.2_Missense_Mutation_p.G92R|ALPL_uc001beu.4_Missense_Mutation_p.G144R NM_000478 NP_001120973 P05186 PPBT_HUMAN Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. 144 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding p.G144E(2)|p.G144G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CACCACCCAGGGGAACGAGGT 0.682000 19 14 0 0 0.000308642 0 0 C6orf58 352999 broad.mit.edu 37 6 127898534 127898534 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:127898534G>A uc003qbh.3 + 0 216 c.204G>A c.(202-204)ttG>ttA p.L68L NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 68 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) AAATCATATTGAATCAGACAG 0.418000 0 25 0 0 0.000586117 0 0 SYT3 84258 broad.mit.edu 37 19 51133319 51133319 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:51133319C>T uc002pst.3 - 2 1418 c.784G>A c.(784-786)Gaa>Aaa p.E262K SYT3_uc002psv.3_Missense_Mutation_p.E262K|SYT3_uc010ycd.2_Missense_Mutation_p.E262K NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 262 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TTGGCTTTTTCCTCGCCTCCA 0.682000 37 28 0 0 0.001512 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140710915 140710915 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140710915C>T uc003lji.2 + 0 664 c.664C>T c.(664-666)Cgt>Tgt p.R222C PCDHGC5_uc011dan.2_Missense_Mutation_p.R222C NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 222 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R222H(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACCAGTCCGTTCAGGGAC 0.493000 28 21 0 0 0.000295444 0 0 METTL23 124512 broad.mit.edu 37 17 74729638 74729639 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:74729638_74729639GG>TT uc021udk.1 + 4 848_849 c.443_444GG>TT c.(442-444)tgg>tTT p.W148F METTL23_uc002jsr.3_Missense_Mutation_p.W148F|METTL23_uc021udl.1_Missense_Mutation_p.W148F|METTL23_uc021udm.1_Missense_Mutation_p.W81F|METTL23_uc002jst.3_Missense_Mutation_p.W81F|METTL23_uc021udn.1_Missense_Mutation_p.W81F|METTL23_uc002jsu.3_Non-coding_Transcript|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank NM_001206983 NP_001193912 Q86XA0 MET23_HUMAN Homo sapiens methyltransferase like 23 (METTL23), transcript variant 2, mRNA. 148 integral to membrane methyltransferase activity large_intestine(2)|lung(1) 3 CTCTACAAATGGGATATGAAAT 0.361000 524 10 0 0 6.4e-05 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306583 205306583 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:205306583C>T uc001hcf.1 - 5 1565 c.997G>A c.(997-999)Ggt>Agt p.G333S KLHDC8A_uc010prg.1_Missense_Mutation_p.G220S|KLHDC8A_uc001hcg.1_Missense_Mutation_p.G333S NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA. 333 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) TGGTTGACACCTCCCACGGCG 0.592000 107 45 0 0 0.000589545 0 0 KCNA7 3743 broad.mit.edu 37 19 49573344 49573344 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49573344C>T uc002pmg.3 - 1 1703 c.1347G>A c.(1345-1347)ggG>ggA p.G449G NM_031886 NP_114092 Q96RP8 KCNA7_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA. 449 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CCAGGTGTTTCCCTGGGGGTG 0.647000 44 25 0 0 0.00127121 0 0 COL21A1 81578 broad.mit.edu 37 6 56044666 56044666 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:56044666C>T uc003pcs.3 - 2 582 c.350G>A c.(349-351)gGg>gAg p.G117E COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G117E|COL21A1_uc003pcu.1_Missense_Mutation_p.G117E NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 117 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GATGGCCTTCCCTGTCTTTGT 0.473000 25 11 0 0 0.00136819 0 0 SUSD4 55061 broad.mit.edu 37 1 223402594 223402594 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:223402594G>A uc001hnx.3 - 4 1495 c.861C>T c.(859-861)atC>atT p.I287I SUSD4_uc001hny.4_Silent_p.I287I|SUSD4_uc010puw.2_Silent_p.I127I NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA. 287 Sushi 4. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) ACTGGCAGGTGATGTACTTGT 0.537000 96 36 0 0 0.000437636 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400818 49400818 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:49400818G>A uc001jgi.3 - 15 2405 c.2074C>T c.(2074-2076)Cag>Tag p.Q692* FRMPD2_uc001jgh.3_Nonsense_Mutation_p.Q660*|FRMPD2_uc001jgj.3_Nonsense_Mutation_p.Q661* NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 692 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCAGCACCCTGAAGCCTGGAT 0.537000 37 35 0 0 0.00128727 0 0 MYO7A 4647 broad.mit.edu 37 11 76892447 76892447 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:76892447C>T uc001oyb.2 + 22 2988 c.2716C>T c.(2716-2718)Cgt>Tgt p.R906C MYO7A_uc010rsl.2_Missense_Mutation_p.R906C|MYO7A_uc010rsm.1_Missense_Mutation_p.R895C|MYO7A_uc001oyc.2_Missense_Mutation_p.R906C|MYO7A_uc001oyd.3_Missense_Mutation_p.R246C|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.R117C NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 906 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCAGCTGGCTCGTGAGGACGC 0.652000 4 5 0 0 0.000602214 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146401 5146401 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:5146401C>T uc003jdl.3 + 2 472 c.334C>T c.(334-336)Ctg>Ttg p.L112L ADAMTS16_uc003jdk.1_Silent_p.L112L|ADAMTS16_uc003jdj.1_Silent_p.L112L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 112 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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 CCACATGGATCTGAGGACTTC 0.552000 44 23 0 0 0.000720815 0 0 DNAH17 8632 broad.mit.edu 37 17 76570936 76570936 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:76570936G>A uc010dhp.2 - 1 329 c.204C>T c.(202-204)ttC>ttT p.F68F 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) GGGACTGGGGGAAGCCCAGGC 0.547000 26 40 0 0 0.00170553 0 0 ODZ2 57451 broad.mit.edu 37 5 167626893 167626893 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:167626893C>T uc010jjd.3 + 16 3160 c.3160C>T c.(3160-3162)Cct>Tct p.P1054S ODZ2_uc003lzr.4_Missense_Mutation_p.P831S|ODZ2_uc003lzt.4_Missense_Mutation_p.P427S|ODZ2_uc010jje.3_Missense_Mutation_p.P325S NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AATCGAGCTCCCTGGTTCCAA 0.493000 90 64 0 0 0.000781405 0 0 GPR111 222611 broad.mit.edu 37 6 47649422 47649422 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47649422G>A uc010jzj.1 + 5 1128 c.1127G>A c.(1126-1128)aGa>aAa p.R376K GPR111_uc003oyy.3_Missense_Mutation_p.R308K NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 376 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GAACTTAAAAGAATCTCACTG 0.463000 107 36 0 0 0.000692331 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838655 43838656 + Missense_Mutation DNP GG AA AA rs149115903 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:43838655_43838656GG>AA uc002zbe.3 + 6 1067_1068 c.983_984GG>AA c.(982-984)cgg>cAA p.R328Q UBASH3A_uc002zbf.3_Missense_Mutation_p.R290Q|UBASH3A_uc010gpe.3_Missense_Mutation_p.R290Q|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 328 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACGGGCTGCCGGGGCTTCCTGC 0.614000 19 19 0 0 6.4e-05 0 0 RGPD4 285190 broad.mit.edu 37 2 108487596 108487596 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:108487596G>A uc010ywk.2 + 19 3218 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K RGPD4_uc002tdu.3_Missense_Mutation_p.E233K|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1046 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCAAATGCCTGAAAAAGTAGA 0.388000 159 110 0 0 0.000781405 0 0 MYO3A 53904 broad.mit.edu 37 10 26459434 26459434 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:26459434G>A uc001isn.2 + 28 3724 c.3364G>A c.(3364-3366)Gaa>Aaa p.E1122K MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1122 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTCTGATCAGGAATTCGACTA 0.338000 14 9 0 0 0.000442599 0 0 F8 2157 broad.mit.edu 37 X 154134723 154134723 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:154134723A>G uc004fmt.3 - 14 5516 c.5345T>C c.(5344-5346)aTa>aCa p.I1782T F8_uc010nvi.1_5'UTR NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1782 F5/8 type A 3.|Plastocyanin-like 5. I -> R (in HEMA; severe sporadic). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.I1782V(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTGCTCTTATATATGGCCC 0.338000 13 24 0 0 0.00127121 0 0 CASR 846 broad.mit.edu 37 3 122002653 122002653 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:122002653C>T uc003eew.4 + 6 2320 c.1882C>T c.(1882-1884)Ctc>Ttc p.L628F CASR_uc003eev.4_Missense_Mutation_p.L618F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 618 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) CGCACTCACCCTCTTTGCCGT 0.547000 43 25 0 0 0.000375601 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739515 121739515 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:121739515C>T uc003ksw.1 + 2 291 c.85C>T c.(85-87)Cca>Tca p.P29S SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.P29S|SNCAIP_uc003ksy.1_Silent_p.S13S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P76S|SNCAIP_uc003ksz.1_Silent_p.S13S|SNCAIP_uc010jcu.2_Silent_p.S13S|SNCAIP_uc011cwm.1_Silent_p.S13S|SNCAIP_uc003kta.1_Silent_p.S11S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.S13S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P29S NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 29 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAAGACGATCCCAGAACTGTG 0.458000 23 19 0 0 0.000229342 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884778 24884778 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:24884778C>T uc001wpf.4 + 8 4141 c.3823C>T c.(3823-3825)Ctc>Ttc p.L1275F NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 1275 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 ATTGGCCCTCCTCCAGGGCCT 0.637000 29 38 0 0 0.00148497 0 0 PLCH1 23007 broad.mit.edu 37 3 155200384 155200384 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:155200384G>A uc021xge.1 - 22 3732 c.3455C>T c.(3454-3456)tCt>tTt p.S1152F PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1114F NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1152 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTCTGACAAAGAAAAGGATGT 0.443000 30 22 0 0 0.000375601 0 0 SSPO 23145 broad.mit.edu 37 7 149477424 149477424 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:149477424G>A uc010lpk.3 + 11 1495 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 499 TIL 1. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTCCTGCAGGGAAGAGTGTGT 0.677000 5 4 0 0 0.00024832 0 0 OR52D1 390066 broad.mit.edu 37 11 5510223 5510223 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:5510223C>T uc010qzg.2 + 0 309 c.287C>T c.(286-288)tCc>tTc p.S96F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGAGATTTCCTTTGGTGGA 0.498000 4 18 0 0 0.00074312 0 0 PCNT 5116 broad.mit.edu 37 21 47783490 47783490 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:47783490G>A uc002zji.4 + 13 2357 c.2250G>A c.(2248-2250)acG>acA p.T750T PCNT_uc002zjj.3_Silent_p.T632T NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 750 Glu-rich. G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GAAAAGAAACGGACTGGAAAG 0.403000 75 52 0 0 0.000781405 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551666 1551666 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:1551666C>T uc010gai.3 - 3 968 c.869G>A c.(868-870)gGa>gAa p.G290E SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 290 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGACACATTTCCATTCTCCAA 0.552000 30 14 0 0 0.000219431 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607446 31607447 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:31607446_31607447CC>TT uc002wyj.3 + 10 1164_1165 c.970_971CC>TT c.(970-972)cct>TTt p.P324F NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA. 324 extracellular region lipid binding GGGTGCCACACCTGTGGCCATG 0.673000 18 14 0 0 6.4e-05 0 0 AKR1C3 8644 broad.mit.edu 37 10 5144346 5144346 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:5144346G>A uc001ihr.3 + 5 807 c.624G>A c.(622-624)tcG>tcA p.S208S AKR1C3_uc021pml.1_Silent_p.S208S|AKR1C3_uc010qap.2_Silent_p.S185S|AKR1C3_uc001ihu.3_Silent_p.S208S NM_003739 NP_003730 P42330 AK1C3_HUMAN Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA. 208 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.S208S(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TCTGCAAGTCGAAAGATATTG 0.373000 39 23 0 0 0.000878237 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199751 71199751 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:71199751G>A uc001xmm.3 - 10 2335 c.2335C>T c.(2335-2337)Ccc>Tcc p.P779S MAP3K9_uc010ttk.2_Missense_Mutation_p.P507S|MAP3K9_uc001xmk.3_Missense_Mutation_p.P512S|MAP3K9_uc001xml.3_Missense_Mutation_p.P793S NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 779 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TCCTCCAGGGGAAGCAGCTGG 0.652000 38 20 0 0 0.000586117 0 0 NXF3 56000 broad.mit.edu 37 X 102335530 102335530 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:102335530C>T uc004eju.3 - 9 972 c.901G>A c.(901-903)Gaa>Aaa p.E301K NXF3_uc010noi.1_Missense_Mutation_p.E151K NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 301 Leu-rich. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGGAACAATTCCAGGATGGAG 0.468000 4 31 0 0 0.00058488 0 0 TPTE2 93492 broad.mit.edu 37 13 20006616 20006616 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:20006616G>A uc001umd.3 - 16 1430 c.1219C>T c.(1219-1221)Cgt>Tgt p.R407C TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R296C|TPTE2_uc001ume.3_Missense_Mutation_p.R330C|TPTE2_uc009zzm.3_Missense_Mutation_p.R78C|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.R78C NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 407 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CACTTACCACGAATCGAATAA 0.388000 21 11 0 0 0.000673444 0 0 LONRF1 91694 broad.mit.edu 37 8 12600738 12600738 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:12600738G>A uc003wwd.1 - 1 838 c.775C>T c.(775-777)Caa>Taa p.Q259* LONRF1_uc010lsp.1_5'UTR NM_152271 NP_689484 Q17RB8 LONF1_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA. 259 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTAAACTCTTGGAGACCAGCA 0.294000 14 11 0 0 0.00136819 0 0 KRT37 8688 broad.mit.edu 37 17 39577646 39577646 + Missense_Mutation SNP C G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39577646C>G uc002hwp.1 - 5 1261 c.1214G>C c.(1213-1215)cGg>cCg p.R405P NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 405 Coil 2.|Rod. intermediate filament structural molecule activity p.R405W(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CAGAAGGTTCCGGTATGTGGC 0.562000 28 20 0 0 0.000295444 0 0 WNT9B 7484 broad.mit.edu 37 17 44952698 44952698 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:44952698G>A uc002ikw.1 + 2 603 c.566G>A c.(565-567)cGg>cAg p.R189Q WNT9B_uc002ikx.1_Missense_Mutation_p.R189Q NM_003396 NP_003387 O14905 WNT9B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA. 189 Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent p.A188T(1) large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CTGCGGGCACGGGCAGACGCC 0.617000 13 8 0 0 0.000274275 0 0 MTMR8 55613 broad.mit.edu 37 X 63579383 63579383 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:63579383G>A uc004dvs.3 - 1 139 c.49C>T c.(49-51)Cgt>Tgt p.R17C MTMR8_uc011mou.2_Missense_Mutation_p.R17C NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN Homo sapiens myotubularin related protein 8 (MTMR8), mRNA. 17 nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CTCACATAACGATCCACCAAT 0.428000 4 13 0 0 0.000151284 0 0 SOGA1 140710 broad.mit.edu 37 20 35444327 35444327 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35444327C>T uc021wcx.1 - 4 1858 c.1518G>A c.(1516-1518)ggG>ggA p.G506G SOGA1_uc002xgd.1_Silent_p.G268G NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 268 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCAAGCTCTCCCCGCACTCTC 0.667000 7 7 0 0 8.12818e-05 0 0 FLG2 388698 broad.mit.edu 37 1 152323424 152323424 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:152323424C>T uc001ezw.4 - 2 6911 c.6838G>A c.(6838-6840)Gga>Aga p.G2280R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 2280 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTGAGATCCAGCTTGGCCC 0.512000 48 60 0 0 0.000781405 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405937 20405937 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:20405937C>T uc002gxb.3 - 4 c.1099G>A Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA. TCTCCAGGCCCTGGAACACCC 0.587000 15 7 0 0 0.000274275 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634535 156634535 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:156634535T>A uc003iov.3 + 7 1908 c.1372T>A c.(1372-1374)Ttt>Att p.F458I GUCY1A3_uc010iqc.2_Missense_Mutation_p.F458I|GUCY1A3_uc010iqd.3_Missense_Mutation_p.F457I|GUCY1A3_uc003iow.3_Missense_Mutation_p.F458I|GUCY1A3_uc003iox.3_Missense_Mutation_p.F458I|GUCY1A3_uc010iqe.3_Missense_Mutation_p.F223I|GUCY1A3_uc003ioy.3_Missense_Mutation_p.F458I|GUCY1A3_uc003ioz.3_Missense_Mutation_p.F223I|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.F458I NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 458 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GTGCTCCATATTTCCCTGTGA 0.522000 8 9 0 0 0.000978159 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91413858 91413858 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:91413858G>A uc001xys.2 - 3 646 c.431C>T c.(430-432)tCt>tTt p.S144F RPS6KA5_uc010twi.1_Missense_Mutation_p.S65F|RPS6KA5_uc001xyt.3_Missense_Mutation_p.S144F|RPS6KA5_uc010att.1_Non-coding_Transcript NM_004755 NP_004746 O75582 KS6A5_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA. 144 Protein kinase 1. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK 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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CTCTCTTTGAGAAAGATGAGT 0.348000 67 39 0 0 0.00128727 0 0 SLC27A6 28965 broad.mit.edu 37 5 128351593 128351593 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:128351593G>A uc003kuy.3 + 5 1381 c.985G>A c.(985-987)Gat>Aat p.D329N SLC27A6_uc003kuz.3_Missense_Mutation_p.D329N NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 329 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGGAGAAAAGGATCATAAGGT 0.308000 26 7 0 0 0.000274275 0 0 PRPF8 10594 broad.mit.edu 37 17 1580001 1580001 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:1580001G>A uc002fte.3 - 15 2300 c.2186C>T c.(2185-2187)cCt>cTt p.P729L NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 729 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CGGCAGCCCAGGGACCTAAAA 0.557000 66 62 0 0 0.000781405 0 0 VWA2 340706 broad.mit.edu 37 10 116049017 116049017 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:116049017G>A uc001lbl.1 + 11 2212 c.1891G>A c.(1891-1893)Ggt>Agt p.G631S VWA2_uc001lbk.1_Missense_Mutation_p.G631S|VWA2_uc009xyf.1_Missense_Mutation_p.G327S NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 631 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) TGCCCGGCCTGGTGTCCCCAA 0.627000 16 7 0 0 0.000274275 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600434 3600434 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:3600434G>A uc002lyg.2 - 1 586 c.199C>T c.(199-201)Ctc>Ttc p.L67F TBXA2R_uc021umv.1_Missense_Mutation_p.L67F NM_001060 NP_001051 P21731 TA2R_HUMAN Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA. 67 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) AGGCCGCAGAGGAAGGTGAGG 0.706000 12 15 0 0 0.000308642 0 0 ATP13A4 84239 broad.mit.edu 37 3 193207550 193207550 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:193207550G>A uc003ftd.3 - 6 815 c.707C>T c.(706-708)tCc>tTc p.S236F ATP13A4_uc003fte.1_Missense_Mutation_p.S236F|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 236 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAAAGATATGGAAATTATGGA 0.294000 92 44 0 0 0.000781405 0 0 UNC79 57578 broad.mit.edu 37 14 94084570 94084570 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:94084570C>T uc001ybv.1 + 26 3875 c.3792C>T c.(3790-3792)atC>atT p.I1264I UNC79_uc001ybs.1_Silent_p.I1242I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1419 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 TCAGCAAGATCCTGCTGCATC 0.438000 25 31 0 0 0.000814825 0 0 C2orf63 130162 broad.mit.edu 37 2 55404787 55404787 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:55404787C>T uc002ryi.2 - 11 1861 c.1515G>A c.(1513-1515)atG>atA p.M505I C2orf63_uc002ryh.2_Missense_Mutation_p.M56I|C2orf63_uc002ryj.2_Missense_Mutation_p.M383I NM_152385 NP_001129070 Q8NHS4 CB063_HUMAN Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA. 505 binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) CAACTTTTTTCATGTCTGCAG 0.358000 34 34 0 0 0.000692331 0 0 SEPN1 57190 broad.mit.edu 37 1 26135082 26135082 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:26135082C>T uc021ojk.1 + 4 604 c.549C>T c.(547-549)ctC>ctT p.L183L SEPN1_uc021ojl.1_Silent_p.L149L NM_020451 NP_065184 Q9NZV5 SELN_HUMAN Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA. 183 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCCGCCTCGCCCTGTCCG 0.662000 70 32 0 0 0.000491102 0 0 SLIT3 6586 broad.mit.edu 37 5 168139336 168139336 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:168139336G>A uc010jjg.3 - 23 2927 c.2507C>T c.(2506-2508)tCc>tTc p.S836F SLIT3_uc003mab.3_Missense_Mutation_p.S836F NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 836 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGAACGCTGGAAATGTCATT 0.463000 72 62 0 0 0.000781405 0 0 MYLK3 91807 broad.mit.edu 37 16 46781899 46781899 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:46781899G>A uc002eei.4 - 0 323 c.207C>T c.(205-207)gcC>gcT p.A69A MYLK3_uc010vge.2_Intron NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 69 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTGCCCGGGAGGCCTCCAGCC 0.672000 23 15 0 0 0.000219431 0 0 TTN 7273 broad.mit.edu 37 2 179428394 179428394 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179428394T>C uc021vsy.1 - 274 74986 c.74761A>G c.(74761-74763)Aca>Gca p.T24921A MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T18616A|TTN_uc021vta.1_Missense_Mutation_p.T18549A|TTN_uc021vtb.1_Missense_Mutation_p.T18424A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25848 Fibronectin type-III 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTGCCCATGTTACTACCATA 0.483000 16 17 0 0 0.000958276 0 0 DEFB119 245932 broad.mit.edu 37 20 29976959 29976959 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:29976959G>A uc002wvu.1 - 1 256 c.136C>T c.(136-138)Cgt>Tgt p.R46C DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron NM_153323 NP_697018 Q8N690 DB119_HUMAN Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA. 52 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CACCGTTTACGATTTCGGCAG 0.458000 64 50 0 0 0.000781405 0 0 AK300387 0 broad.mit.edu 37 16 32190845 32190845 + RNA SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:32190845G>A uc010vfv.1 - 6 c.979C>T Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2. AGGTACCTCAGGAAACTCTCA 0.458000 27 6 0 0 0.000157383 0 0 NR5A2 2494 broad.mit.edu 37 1 200090020 200090020 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:200090020C>T uc001gvb.3 + 6 1521 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C NR5A2_uc001gvc.3_Missense_Mutation_p.R393C|NR5A2_uc009wzh.3_Missense_Mutation_p.R399C|NR5A2_uc010pph.2_Missense_Mutation_p.R367C NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 439 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GGCAAAACTTCGTTCTCTCCA 0.438000 83 32 0 0 0.000409698 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590623 125590623 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:125590623C>T uc010inw.3 - 3 4847 c.3809G>A c.(3808-3810)gGg>gAg p.G1270E ANKRD50_uc011cgo.2_Missense_Mutation_p.G1091E NM_020337 NP_001161354 Q9ULJ7 ANR50_HUMAN Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA. 1270 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TGATTTCCCCCCTTTACTTGC 0.398000 26 16 0 0 0.000422831 0 0 KLHL14 57565 broad.mit.edu 37 18 30257204 30257204 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:30257204G>A uc002kxm.1 - 7 2066 c.1678C>T c.(1678-1680)Cga>Tga p.R560* NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA. 560 cytosol|endoplasmic reticulum membrane p.R560*(2) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GGGCCACTTCGACCCTCCAAA 0.478000 22 20 0 0 0.000958276 0 0 KALRN 8997 broad.mit.edu 37 3 124165124 124165124 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:124165124G>A uc003ehg.3 + 20 3550 c.3423_splice c.e20+1 p.Q1141_splice KALRN_uc010hrv.1_Splice_Site_p.Q1132_splice|KALRN_uc003ehf.1_Splice_Site_p.Q1141_splice|KALRN_uc011bjy.1_Splice_Site_p.Q1132_splice|KALRN_uc003ehh.1_Splice_Site_p.Q487_splice NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 1141 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGCTAAGCAGGTTGTCCAAAG 0.557000 18 15 0 0 0.000566183 0 0 SPAG5 10615 broad.mit.edu 37 17 26941126 26941126 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:26941126G>A uc010crq.2 - 0 86 c.54C>T c.(52-54)acC>acT p.T18T SPAG5_uc010waq.1_Silent_p.T18T|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Silent_p.T18T NM_001174103 NP_001167574 Q96R06 SPAG5_HUMAN Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA. 0 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CAGCCACCCGGGTGTGTTCCC 0.607000 34 39 0 0 0.000781405 0 0 SF3B1 23451 broad.mit.edu 37 2 198265465 198265465 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:198265465A>G uc002uue.3 - 17 2740 c.2692T>C c.(2692-2694)Tat>Cat p.Y898H SNORD2_uc021vul.1_5'Flank NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 898 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGGAAAGCATAAAGAATACCA 0.323000 Mis myelodysplastic syndrome 49 15 0 0 0.000422831 0 0 MYBL2 4605 broad.mit.edu 37 20 42344652 42344652 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:42344652C>T uc002xlb.1 + 13 2243 c.2028C>T c.(2026-2028)ttC>ttT p.F676F MYBL2_uc010zwj.1_Silent_p.F652F NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 676 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACCAGCTTTTCATGCAGGAGA 0.617000 87 68 0 0 0.000781405 0 0 BRF2 55290 broad.mit.edu 37 8 37702229 37702229 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:37702229G>A uc003xkk.3 - 3 1169 c.1039C>T c.(1039-1041)Cag>Tag p.Q347* NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA. 347 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CGCTTCCCCTGGGGTAAACCT 0.617000 20 20 0 0 0.00152264 0 0 FAM3D 131177 broad.mit.edu 37 3 58631246 58631246 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:58631246C>T uc003dkq.3 - 4 550 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_138805 NP_620160 Q96BQ1 FAM3D_HUMAN Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA. 85 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) ATGCGGTCTTCAAAGCACATA 0.428000 12 12 0 0 0.000978159 0 0 CADM3 57863 broad.mit.edu 37 1 159169596 159169596 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:159169596C>T uc001ftl.2 + 7 1187 c.1008C>T c.(1006-1008)atC>atT p.I336I CADM3_uc001ftk.2_Silent_p.I370I|LOC100131825_uc001ftm.2_Non-coding_Transcript NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 336 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.I370I(3)|p.A335S(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TCGGTGGGATCGTGGCTTTCA 0.557000 53 27 0 0 0.00178596 0 0 COL4A5 1287 broad.mit.edu 37 X 107849982 107849982 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:107849982G>A uc022ccg.1 + 28 2457 c.2255G>A c.(2254-2256)gGa>gAa p.G752E COL4A5_uc004enz.1_Missense_Mutation_p.G752E|COL4A5_uc004eob.1_Missense_Mutation_p.G360E NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 752 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGTGAACCAGGATTTGCATTA 0.478000 Alport syndrome with Diffuse Leiomyomatosis 7 46 0 0 0.000781405 0 0 TRPC7 57113 broad.mit.edu 37 5 135602072 135602072 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:135602072G>A uc003lbn.2 - 4 1403 c.1181C>T c.(1180-1182)tCt>tTt p.S394F TRPC7_uc010jef.2_Missense_Mutation_p.S330F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.S333F|TRPC7_uc010jei.2_Missense_Mutation_p.S278F NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 394 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.S394Y(3) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GATTGTAAAAGAAACTGCATG 0.408000 12 13 0 0 0.00136819 0 0 GRM8 2918 broad.mit.edu 37 7 126173552 126173552 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:126173552C>T uc003vlr.2 - 7 2195 c.1884G>A c.(1882-1884)ggG>ggA p.G628G GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G628G|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 628 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGAGAAAAATCCCCGTTAGGA 0.463000 HNSCC(24;0.065) 22 12 0 0 0.00136819 0 0 OR10C1 442194 broad.mit.edu 37 6 29408518 29408518 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29408518C>T uc011dlp.2 + 0 803 c.726C>T c.(724-726)tcC>tcT p.S242S OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCTGCTCCTCCCACCTGATCA 0.592000 207 94 0 0 0.000781405 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891566 18891566 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:18891566C>T uc001rdy.3 + 0 522 c.364C>T c.(364-366)Ctg>Ttg p.L122L PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 122 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AGTTGTTCTTCTGTGCGCCTT 0.378000 2 16 0 0 0.000566183 0 0 SCN5A 6331 broad.mit.edu 37 3 38647623 38647623 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:38647623C>T uc021wvo.1 - 8 1209 c.1157G>A c.(1156-1158)gGg>gAg p.G386E SCN5A_uc021wvk.1_Missense_Mutation_p.G386E|SCN5A_uc021wvl.1_Missense_Mutation_p.G386E|SCN5A_uc021wvm.1_Missense_Mutation_p.G386E|SCN5A_uc021wvn.1_Missense_Mutation_p.G386E|SCN5A_uc021wvp.1_Missense_Mutation_p.G386E|SCN5A_uc021wvq.1_Missense_Mutation_p.G386E|SCN5A_uc021wvr.1_Missense_Mutation_p.G386E|SCN5A_uc021wvs.1_Missense_Mutation_p.G386E|SCN5A_uc021wvt.1_Missense_Mutation_p.G386E|SCN5A_uc021wvu.1_Missense_Mutation_p.G386E|SCN5A_uc021wvv.1_Missense_Mutation_p.G386E|SCN5A_uc021wvj.1_Missense_Mutation_p.G252E|SCN5A_uc021wvi.1_Missense_Mutation_p.G252E|SCN5A_uc021wvw.1_5'UTR NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 386 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) GTAGATCTTCCCTGCGGACCT 0.562000 29 16 0 0 0.000422831 0 0 C8A 731 broad.mit.edu 37 1 57378088 57378088 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:57378088C>T uc001cyo.2 + 9 1525 c.1393C>T c.(1393-1395)Cac>Tac p.H465Y NM_000562 NP_000553 P07357 CO8A_HUMAN Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA. 465 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GCAGCCTATCCACGAGGTGCT 0.617000 24 12 0 0 0.000151284 0 0 AMY2A 279 broad.mit.edu 37 1 104160630 104160630 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:104160630G>A uc001dut.3 + 1 287 c.223G>A c.(223-225)Gaa>Aaa p.E75K AMY2A_uc010ouq.1_Missense_Mutation_p.E75K NM_000699 NP_000690 P04746 AMYP_HUMAN Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA. 75 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ACCTTGGTGGGAAAGATACCA 0.358000 60 48 0 0 0.000781405 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765453 18765453 + Silent SNP C T T rs151116969 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:18765453C>T uc010exr.3 - 4 910 c.798G>A c.(796-798)agG>agA p.R266R NT5C1B-RDH14_uc002rcy.3_Silent_p.R324R|NT5C1B-RDH14_uc010yju.2_Silent_p.R264R|NT5C1B-RDH14_uc002rcz.3_Silent_p.R324R|NT5C1B-RDH14_uc010yjw.2_Silent_p.R307R|NT5C1B-RDH14_uc010yjv.2_Silent_p.R341R|NT5C1B-RDH14_uc010exs.3_Silent_p.R326R|NT5C1B-RDH14_uc002rda.3_Silent_p.R264R|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.R116R NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 324 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding p.R324R(1) CGTAGATTTTCCTGCCGTCCA 0.562000 69 54 0 0 0.000781405 0 0 CEP350 9857 broad.mit.edu 37 1 180003091 180003092 + Missense_Mutation DNP TC GT GT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:180003091_180003092TC>GT uc001gnt.3 + 15 4203_4204 c.3820_3821TC>GT c.(3820-3822)tct>GTt p.S1274V CEP350_uc009wxl.2_Missense_Mutation_p.S1273V|CEP350_uc001gnu.3_Missense_Mutation_p.S1107V NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 1274 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGCAGGAACTTCTTCAGAAAGA 0.450000 97 31 0 0 6.4e-05 0 0 LRPPRC 10128 broad.mit.edu 37 2 44153093 44153094 + Missense_Mutation DNP CC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:44153093_44153094CC>AA uc002rtr.2 - 25 2801_2802 c.2743_2744GG>TT c.(2743-2745)ggg>TTg p.G915L LRPPRC_uc010yob.1_Missense_Mutation_p.G815L NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 915 mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCTCTAATCCCTGGAGTCTGT 0.366000 260 9 0 0 6.4e-05 0 0 ADCY6 112 broad.mit.edu 37 12 49165664 49165664 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:49165664G>A uc001rsh.4 - 17 3540 c.2880C>T c.(2878-2880)ttC>ttT p.F960F ADCY6_uc001rsi.4_Silent_p.F907F|ADCY6_uc001rsj.4_Silent_p.F960F|ADCY6_uc010slw.1_Silent_p.F191F NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 960 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CCCGGGCCAGGAAGTGGGCCG 0.557000 6 42 0 0 0.000589545 0 0 KAT6A 7994 broad.mit.edu 37 8 41792309 41792309 + Silent SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:41792309G>T uc010lxb.3 - 17 3973 c.3429C>A c.(3427-3429)tcC>tcA p.S1143S KAT6A_uc010lxc.3_Silent_p.S1143S|KAT6A_uc003xon.4_Silent_p.S1143S NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1143 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCAAAGGTGTGGATGTATCTG 0.418000 367 9 0.00136819 0.00798609 0.00136819 1 0 SSTR1 6751 broad.mit.edu 37 14 38679115 38679115 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:38679115C>T uc021rsi.1 + 0 521 c.521C>T c.(520-522)gCc>gTc p.A174V SSTR1_uc001wul.1_Missense_Mutation_p.A174V NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 174 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity p.V173M(2) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CCCACCGTGGCCAAGGTAGTA 0.642000 21 20 0 0 0.00152264 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401533 11401533 + Nonsense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:11401533T>A uc003gmq.3 - 1 420 c.97A>T c.(97-99)Aaa>Taa p.K33* HS3ST1_uc021xmg.1_Nonsense_Mutation_p.K33* NM_005114 NP_005105 O14792 HS3S1_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA. 33 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GTCCCCGCTTTCCGCAGAAGC 0.706000 8 6 0 0 8.12818e-05 0 0 PLCB4 5332 broad.mit.edu 37 20 9404511 9404511 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:9404511C>T uc021wam.1 + 23 2415 c.2400C>T c.(2398-2400)tcC>tcT p.S800S PLCB4_uc010gbw.1_Silent_p.S800S|PLCB4_uc010gbx.3_Silent_p.S812S|PLCB4_uc021wal.1_Silent_p.S800S|PLCB4_uc002wnh.3_Silent_p.S647S NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 800 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GACACATTTCCCTTCGAAATG 0.413000 7 11 0 0 0.000673444 0 0 CDCP2 200008 broad.mit.edu 37 1 54610383 54610383 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:54610383C>T uc001cwv.1 - 1 1031 c.183G>A c.(181-183)gtG>gtA p.V61V NM_201546 NP_963840 Q5VXM1 CDCP2_HUMAN Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA. 61 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CCTCGGCCACCACGATCAGCC 0.557000 21 9 0 0 0.000673444 0 0 COL13A1 1305 broad.mit.edu 37 10 71705454 71705454 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:71705454G>A uc001jql.3 + 35 2499 c.1963G>A c.(1963-1965)Gga>Aga p.G655R COL13A1_uc021prz.1_Missense_Mutation_p.G606R|COL13A1_uc021psa.1_Missense_Mutation_p.G583R|COL13A1_uc021psb.1_Missense_Mutation_p.G577R|COL13A1_uc001jqk.2_Missense_Mutation_p.G633R|COL13A1_uc021psc.1_Missense_Mutation_p.G624R|COL13A1_uc021psd.1_Missense_Mutation_p.G606R|COL13A1_uc010qjf.2_Missense_Mutation_p.G583R|COL13A1_uc021pse.1_Missense_Mutation_p.G577R|COL13A1_uc021psf.1_Missense_Mutation_p.G655R|COL13A1_uc021psg.1_Missense_Mutation_p.G633R|COL13A1_uc021psh.1_Missense_Mutation_p.G624R NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 655 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) TGGGATGACAGGACCAACGGG 0.557000 9 8 0 0 0.000274275 0 0 DQX1 165545 broad.mit.edu 37 2 74746699 74746699 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:74746699G>A uc010yrw.2 - 9 1955 c.1790C>T c.(1789-1791)tCa>tTa p.S597L DQX1_uc002smc.3_Missense_Mutation_p.S158L NM_133637 NP_598376 Q8TE96 DQX1_HUMAN Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA. 597 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AAAGTATCCTGACACCAGTGC 0.473000 72 49 0 0 0.000781405 0 0 DDX52 11056 broad.mit.edu 37 17 36002295 36002295 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:36002295G>A uc002hoi.2 - 1 174 c.130C>T c.(130-132)Cag>Tag p.Q44* DDX52_uc002hoh.2_5'UTR|DDX52_uc002hoj.1_5'UTR NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA. 44 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) TCCAGTCCCTGAAGCACCTCC 0.393000 35 14 0 0 0.000151284 0 0 NDST3 9348 broad.mit.edu 37 4 119059315 119059315 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:119059315T>A uc003ibx.3 + 4 1734 c.1331T>A c.(1330-1332)aTt>aAt p.I444N NDST3_uc011cgf.1_Missense_Mutation_p.I363N NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 444 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GTCTGGAATATTAAAATCACC 0.493000 15 23 0 0 0.000295444 0 0 DHDH 27294 broad.mit.edu 37 19 49442803 49442803 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49442803G>A uc002ple.1 + 3 504 c.464G>A c.(463-465)gGg>gAg p.G155E NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA. 155 carbohydrate metabolic process D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) GCAGAATTTGGGAAGAATCTC 0.627000 32 29 0 0 0.00106085 0 0 CSMD1 64478 broad.mit.edu 37 8 2800094 2800094 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:2800094G>A uc022aqr.1 - 68 10825 c.10435C>T c.(10435-10437)Cat>Tat p.H3479Y CSMD1_uc011kwj.2_Missense_Mutation_p.H2794Y|CSMD1_uc010lrg.3_Missense_Mutation_p.H1371Y NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3480 S -> N (in dbSNP:rs11984691). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCGTGGTAATGACTGGAAGAG 0.383000 8 7 0 0 8.12818e-05 0 0 MIA2 117153 broad.mit.edu 37 14 39722131 39722131 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:39722131G>A uc001wux.3 + 4 1941 c.1747G>A c.(1747-1749)Gat>Aat p.D583N NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 0 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GGTTTCAACTGATAACTCTTT 0.358000 13 8 0 0 0.000157383 0 0 SLC27A4 10999 broad.mit.edu 37 9 131105465 131105465 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:131105465G>A uc004but.3 + 1 339 c.54G>A c.(52-54)ctG>ctA p.L18L SLC27A4_uc004buu.3_Missense_Mutation_p.E46K NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA. 18 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding p.V17L(1) autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 AGCTGGTGCTGAAACTGCCCT 0.602000 6 14 0 0 0.000219431 0 0 MAP3K15 389840 broad.mit.edu 37 X 19392708 19392708 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:19392708G>A uc022btq.1 - 19 2660 c.2660C>T c.(2659-2661)tCc>tTc p.S887F MAP3K15_uc004czj.2_Missense_Mutation_p.S322F|MAP3K15_uc004czk.2_Missense_Mutation_p.S362F|MAP3K15_uc004czi.2_5'Flank NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 887 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTCGAAACAGGATAAAATGAA 0.512000 7 27 0 0 0.000878237 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139815696 139815696 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:139815696C>T uc003lfs.2 + 1 468 c.314C>T c.(313-315)tCa>tTa p.S105L ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.S105L NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 105 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTTGAATCATTTATTTTG 0.318000 15 6 0 0 8.12818e-05 0 0 SLC17A1 6568 broad.mit.edu 37 6 25819768 25819768 + Missense_Mutation SNP C T T rs146175657 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:25819768C>T uc003nfh.4 - 4 616 c.500G>A c.(499-501)cGa>cAa p.R167Q SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.R167Q|SLC17A1_uc010jqc.1_Missense_Mutation_p.R165Q NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 167 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.R167L(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAGTCGGCCTCGTTCCAGGGG 0.393000 95 26 0 0 0.00106085 0 0 UBXN8 7993 broad.mit.edu 37 8 30623851 30623851 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:30623851G>A uc003xii.3 + 8 768 c.751G>A c.(751-753)Gac>Aac p.D251N UBXN8_uc010lvi.3_3'UTR|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript NM_005671 NP_005662 O00124 UBXN8_HUMAN Homo sapiens UBX domain protein 8 (UBXN8), mRNA. 252 UBX. single fertilization central_nervous_system(1)|lung(2) 3 GTCGCTGGAGGACATAGGAAT 0.507000 17 13 0 0 0.000151284 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64603243 64603243 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64603243G>A uc001obs.4 - 13 1749 c.1749C>T c.(1747-1749)tcC>tcT p.S583S NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA. 583 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CCTTGGCCTGGGACGACTCCT 0.662000 21 11 0 0 0.000978159 0 0 ALOX15B 247 broad.mit.edu 37 17 7950951 7950951 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7950951C>T uc002gju.3 + 11 1765 c.1649C>T c.(1648-1650)tCc>tTc p.S550F ALOX15B_uc002gjv.3_Missense_Mutation_p.S521F|ALOX15B_uc002gjw.3_Missense_Mutation_p.S476F|ALOX15B_uc010vun.2_Missense_Mutation_p.S538F|ALOX15B_uc010cnp.3_Missense_Mutation_p.S356F NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 550 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.S550S(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TTCACCTGCTCCGCCAAGCAT 0.627000 13 5 0 0 0.00116845 0 0 SLC9A9 285195 broad.mit.edu 37 3 143550953 143550953 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:143550953T>A uc003evn.3 - 1 495 c.286A>T c.(286-288)Aat>Tat p.N96Y SLC9A9_uc011bnk.2_Intron NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 96 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCAGTGATATTAACCAGCAGA 0.348000 21 20 0 0 0.000229342 0 0 LDHD 197257 broad.mit.edu 37 16 75148831 75148832 + Missense_Mutation DNP TC AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:75148831_75148832TC>AT uc002fdm.3 - 3 414_415 c.362_363GA>AT c.(361-363)cga>cAT p.R121H LDHD_uc002fdn.3_Missense_Mutation_p.R121H NM_153486 NP_705690 Q86WU2 LDHD_HUMAN Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 121 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 GCTCCAGGATTCGGTCCATATG 0.634000 37 19 0 0 6.4e-05 0 0 SH2B1 25970 broad.mit.edu 37 16 28877985 28877985 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:28877985C>T uc002dri.3 + 3 1009 c.570C>T c.(568-570)ggC>ggT p.G190G NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Silent_p.G190G|SH2B1_uc002drk.3_Silent_p.G190G|SH2B1_uc002drl.3_Silent_p.G190G|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Silent_p.G190G|SH2B1_uc002drm.3_Silent_p.G190G NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA. 190 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCTCGTCAGGCCCCCCAGTCT 0.652000 33 29 0 0 0.000339439 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434888 1434888 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:1434888G>A uc002lsn.3 + 11 1390 c.1201G>A c.(1201-1203)Ggg>Agg p.G401R DAZAP1_uc002lsm.3_3'UTR NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA. 401 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus RNA binding|nucleotide binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACGTGCAAGGGTTCCACCC 0.677000 4 5 0 0 0.000602214 0 0 GDF9 2661 broad.mit.edu 37 5 132197738 132197738 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:132197738C>T uc003kxz.1 - 1 1160 c.908G>A c.(907-909)gGa>gAa p.G303E GDF9_uc011cxj.1_Missense_Mutation_p.G215E NM_005260 NP_005251 O60383 GDF9_HUMAN Homo sapiens growth differentiation factor 9 (GDF9), mRNA. 303 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGCCTCTTCTCCCACAGGATA 0.537000 32 18 0 0 0.000566183 0 0 PHLDB2 90102 broad.mit.edu 37 3 111693387 111693387 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:111693387G>T uc010hqa.3 + 17 4150 c.3739G>T c.(3739-3741)Ggt>Tgt p.G1247C PHLDB2_uc003dyc.3_Missense_Mutation_p.G1231C|PHLDB2_uc003dyd.3_Missense_Mutation_p.G1204C|PHLDB2_uc003dyg.3_Missense_Mutation_p.G1247C|PHLDB2_uc003dyh.3_Missense_Mutation_p.G1204C|PHLDB2_uc003dyi.3_Missense_Mutation_p.G738C|PHLDB2_uc003dyj.3_Missense_Mutation_p.G302C NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 1247 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGGGGCAGAAGGTTACACTCA 0.463000 63 31 2.87052e-16 1.71656e-15 0.00111076 1 0 COBLL1 22837 broad.mit.edu 37 2 165578631 165578631 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:165578631G>A uc002ucp.3 - 5 1172 c.950C>T c.(949-951)cCt>cTt p.P317L COBLL1_uc002ucq.3_Missense_Mutation_p.P317L|COBLL1_uc010zcw.2_Missense_Mutation_p.P383L|COBLL1_uc010zcx.2_Missense_Mutation_p.P363L|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.P86L NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 355 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 ACAAGAAGCAGGCCTCTCCTG 0.502000 16 9 0 0 0.000442599 0 0 LAMP5 24141 broad.mit.edu 37 20 9496978 9496978 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:9496978G>A uc002wni.2 + 3 940 c.445G>A c.(445-447)Gag>Aag p.E149K LAMP5_uc010zrc.2_Missense_Mutation_p.E105K NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 149 integral to membrane CGACTCCTCGGAGAAAACCCA 0.577000 43 29 0 0 0.00127121 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860340 228860340 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:228860340G>A uc002vpq.2 - 7 4566 c.4519C>T c.(4519-4521)Ccc>Tcc p.P1507S SPHKAP_uc002vpp.2_Missense_Mutation_p.P1507S|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1507 cytoplasm protein binding p.A1506V(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAGGGTTGGGGGCCTCATCG 0.552000 22 10 0 0 0.000442599 0 0 NLRP3 114548 broad.mit.edu 37 1 247588449 247588449 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247588449C>T uc001icr.3 + 4 1842 c.1704C>T c.(1702-1704)ttC>ttT p.F568F NLRP3_uc001ics.3_Silent_p.F568F|NLRP3_uc001icu.3_Silent_p.F568F|NLRP3_uc001icw.3_Silent_p.F568F|NLRP3_uc001icv.3_Silent_p.F568F|NLRP3_uc010pyw.2_Silent_p.F566F|NLRP3_uc001ict.1_Silent_p.F566F NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 568 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATGGCAAATTCGAAAAGGGGT 0.463000 55 30 0 0 0.00178596 0 0 MUC16 94025 broad.mit.edu 37 19 9088960 9088960 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9088960T>C uc002mkp.3 - 0 3059 c.2855A>G c.(2854-2856)aAt>aGt p.N952S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 952 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGTGTCTCTATTGGTCTGTGA 0.478000 57 35 0 0 0.000953801 0 0 SPNS3 201305 broad.mit.edu 37 17 4391183 4391183 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:4391183G>A uc002fxt.3 + 11 1577 c.1533G>A c.(1531-1533)gaG>gaA p.E511E SPNS3_uc002fxu.3_Silent_p.E384E|AX748345_uc002fxw.1_5'Flank NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA. 511 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTACAGAGGAGCCCTGAGGTC 0.627000 22 16 0 0 0.00074312 0 0 GHR 2690 broad.mit.edu 37 5 42718865 42718865 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:42718865G>A uc021xxv.1 + 9 1414 c.1277G>A c.(1276-1278)gGg>gAg p.G426E GHR_uc003jmt.3_Missense_Mutation_p.G419E|GHR_uc003jmu.3_Missense_Mutation_p.G419E|GHR_uc003jmv.2_Missense_Mutation_p.G419E|GHR_uc021xxw.1_Missense_Mutation_p.G419E|GHR_uc021xxx.1_Missense_Mutation_p.G419E|GHR_uc021xxy.1_Missense_Mutation_p.G419E|GHR_uc021xxz.1_Missense_Mutation_p.G419E|GHR_uc021xya.1_Missense_Mutation_p.G419E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.G232E|GHR_uc021xyd.1_Missense_Mutation_p.G397E NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 419 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGGTTAAAAGGGGAAGCAGAT 0.468000 25 28 0 0 0.000878237 0 0 CELSR2 1952 broad.mit.edu 37 1 109813642 109813643 + Missense_Mutation DNP CG AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:109813642_109813643CG>AT uc001dxa.4 + 24 7638_7639 c.7577_7578CG>AT c.(7576-7578)ccg>cAT p.P2526H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 2526 Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TTTGCTGGCCCGGTGGCCTTTG 0.644000 211 7 0 0 6.4e-05 0 0 PRKDC 5591 broad.mit.edu 37 8 48815190 48815190 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:48815190G>A uc003xqi.3 - 26 3265 c.3208C>T c.(3208-3210)Ccc>Tcc p.P1070S PRKDC_uc003xqj.3_Missense_Mutation_p.P1070S NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 1070 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAAGCATTGGGGTGAAGCGCA 0.428000 Non-homologous end-joining 19 14 0 0 0.000422831 0 0 RELL2 285613 broad.mit.edu 37 5 141019704 141019704 + Nonsense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:141019704G>T uc003lli.3 + 5 1569 c.721G>T c.(721-723)Gga>Tga p.G241* RELL2_uc003llh.3_Nonsense_Mutation_p.G241*|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR NM_001130029 NP_776189 Q8NC24 RELL2_HUMAN Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA. 241 integral to membrane|plasma membrane p.G241*(2) large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAATGGAGGACTCAGGGA 0.667000 16 11 3.07112e-06 1.80832e-05 0.000978159 1 0 CERS1 10715 broad.mit.edu 37 19 18994943 18994943 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:18994943G>A uc002nki.1 - 2 615 c.543C>T c.(541-543)ctC>ctT p.L181L CERS1_uc002nkj.3_Silent_p.L181L|CERS1_uc010ebx.3_Silent_p.L83L NM_021267 NP_067090 P27544 CERS1_HUMAN Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA. 181 TLC. ceramide biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 CCACGTGGTGGAGCAGCATGA 0.612000 14 7 0 0 0.000157383 0 0 SP7 121340 broad.mit.edu 37 12 53722750 53722750 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:53722750C>T uc001sct.3 - 1 583 c.476G>A c.(475-477)tGg>tAg p.W159* SP7_uc001scv.3_Nonsense_Mutation_p.W159*|SP7_uc001scu.3_Nonsense_Mutation_p.W141* NM_152860 NP_690599 Q8TDD2 SP7_HUMAN Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA. 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GTGCATATCCCACCATGGAGT 0.602000 5 20 0 0 0.000958276 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38590622 38590622 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38590622C>T uc002ohk.3 + 4 2195 c.1686C>T c.(1684-1686)tcC>tcT p.S562S NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 562 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGCGGGGCTCCATCCTGGAAG 0.572000 29 22 0 0 0.000586117 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42107932 42107932 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:42107932C>T uc001zok.4 + 12 1732 c.1446C>T c.(1444-1446)atC>atT p.I482I MAPKBP1_uc010bci.3_Silent_p.I476I|MAPKBP1_uc010udb.2_Silent_p.I315I|MAPKBP1_uc001zoj.4_Silent_p.I476I|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 482 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCGTGGGCATCCGCTCGGTGT 0.587000 16 12 0 0 0.000219431 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180678 142180679 + Missense_Mutation DNP CC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142180678_142180679CC>AA uc011krz.2 - 1 229_230 c.180_181GG>TT c.(178-183)atgggg>atTTgg p.60_61MG>IW TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.60_61MG>IW|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGCCTCAGCCCCATGCCTGGGT 0.500000 345 12 0 0 6.4e-05 0 0 NEB 4703 broad.mit.edu 37 2 152470873 152470873 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:152470873T>C uc021vrb.1 - 71 10818 c.10789A>G c.(10789-10791)Aag>Gag p.K3597E NEB_uc002txu.3_Missense_Mutation_p.K3840E|NEB_uc021vrc.1_Missense_Mutation_p.K3840E|NEB_uc010fnx.3_Missense_Mutation_p.K3585E|NEB_uc021vrd.1_Missense_Mutation_p.K3597E NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 3597 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGGGGATGCTTGTAGTCTATG 0.522000 27 25 0 0 0.00047179 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125282009 125282009 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:125282009G>A uc010flu.3 + 8 1821 c.1457G>A c.(1456-1458)gGa>gAa p.G486E CNTNAP5_uc002tno.3_Missense_Mutation_p.G485E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 485 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ATTTATTCTGGAAATAGCTAC 0.453000 4 4 0 0 0.00024832 0 0 ITGB4 3691 broad.mit.edu 37 17 73746842 73746842 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73746842C>T uc002jpg.3 + 28 3743 c.3556C>T c.(3556-3558)Ctg>Ttg p.L1186L ITGB4_uc002jph.3_Silent_p.L1186L|ITGB4_uc002jpi.4_Silent_p.L1186L|ITGB4_uc002jpj.3_Silent_p.L1186L NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1186 Fibronectin type-III 1. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTCACCAACCTGTACCCGTA 0.617000 57 26 0 0 0.001512 0 0 NLRP13 126204 broad.mit.edu 37 19 56423233 56423233 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:56423233G>A uc010ygg.2 - 4 1975 c.1950C>T c.(1948-1950)ttC>ttT p.F650F NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 650 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCTTCTTTGTGAAGTCTTCCT 0.423000 54 32 0 0 0.000409698 0 0 FBXW7 55294 broad.mit.edu 37 4 153268087 153268087 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:153268087A>G uc003ims.3 - 3 883 c.721T>C c.(721-723)Ttt>Ctt p.F241L FBXW7_uc011cii.2_Missense_Mutation_p.F241L|FBXW7_uc003imt.3_Missense_Mutation_p.F241L|FBXW7_uc011cih.2_Missense_Mutation_p.F65L|FBXW7_uc003imq.3_Missense_Mutation_p.F161L|FBXW7_uc003imr.3_Missense_Mutation_p.F123L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA. 241 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development SCF ubiquitin ligase complex|nucleolus|nucleoplasm protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTCACCTGAAACATTTTTAGC 0.428000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 29 15 0 0 0.000422831 0 0 OR8H3 390152 broad.mit.edu 37 11 55890756 55890756 + Missense_Mutation SNP G T T rs146433594 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55890756G>T uc001nii.1 + 0 908 c.908G>T c.(907-909)aGa>aTa p.R303I NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GCTCTCATTAGAGTCATGCAG 0.358000 28 11 9.04627e-18 5.42171e-17 0.000151284 1 0 WBP2NL 164684 broad.mit.edu 37 22 42415416 42415416 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:42415416C>T uc003bbt.3 + 1 258 c.164C>T c.(163-165)tCa>tTa p.S55L WBP2NL_uc011apk.2_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_5'Flank NM_152613 NP_689826 Q6ICG8 WBP2L_HUMAN Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA. 55 GRAM. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TTTCTCACTTCATACCGGGTA 0.383000 34 33 0 0 0.00058488 0 0 GRID1 2894 broad.mit.edu 37 10 87484319 87484319 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:87484319C>T uc001kdl.1 - 10 1749 c.1648G>A c.(1648-1650)Gag>Aag p.E550K GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.E121K NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 550 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGATTTTCTCCTCGGGCTTC 0.502000 Multiple Myeloma(13;0.14) 26 19 0 0 0.00152264 0 0 ZNF646 9726 broad.mit.edu 37 16 31089890 31089890 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:31089890C>T uc002eap.3 + 1 2534 c.2245C>T c.(2245-2247)Cag>Tag p.Q749* ZNF646_uc021tgu.1_Nonsense_Mutation_p.Q749* NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GACCCATTTCCAGGGTGATAA 0.537000 97 60 0 0 0.000781405 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088864 65088864 + Silent SNP G A A rs140875363 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:65088864G>A uc021qli.1 + 0 495 c.495G>A c.(493-495)ccG>ccA p.P165P CDC42EP2_uc001odl.3_Silent_p.P165P NM_006779 NP_006770 O14613 BORG1_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA. 165 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 GACTGACCCCGGAGTCAGGGG 0.637000 15 20 0 0 0.00152264 0 0 ERBB4 2066 broad.mit.edu 37 2 212652880 212652880 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:212652880G>A uc002veg.1 - 3 524 c.426C>T c.(424-426)atC>atT p.I142I ERBB4_uc002veh.1_Silent_p.I142I|ERBB4_uc010zji.1_Silent_p.I142I|ERBB4_uc010zjj.1_Silent_p.I142I|ERBB4_uc010fut.1_Silent_p.I142I NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 142 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CACCATTTAGGATTTCTGTAT 0.333000 TSP Lung(8;0.080) 12 9 0 0 0.000442599 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791406 50791406 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:50791406C>T uc003pag.3 + 1 534 c.368C>T c.(367-369)cCc>cTc p.P123L NM_003221 NP_003212 Q92481 AP2B_HUMAN Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA. 123 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TCTCTCCTGCCCCAGCCTCGG 0.697000 13 4 0 0 0.00024832 0 0 KIAA1704 55425 broad.mit.edu 37 13 45594490 45594491 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:45594490_45594491CC>TT uc001uzq.3 + 6 834_835 c.731_732CC>TT c.(730-732)tcc>tTT p.S244F KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.S244F|KIAA1704_uc001uzs.3_Missense_Mutation_p.S121F|KIAA1704_uc001uzt.3_Missense_Mutation_p.S95F NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN Homo sapiens KIAA1704 (KIAA1704), mRNA. 244 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) AGGAAGTCATCCAGTAAGAAAG 0.302000 97 63 0 0 6.4e-05 0 0 SPATA25 128497 broad.mit.edu 37 20 44515211 44515211 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:44515211C>T uc002xqf.3 - 1 638 c.629G>A c.(628-630)gGg>gAg p.G210E NM_080608 NP_542175 Q9BR10 CT165_HUMAN Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA. 210 integral to membrane GGGCATCTTCCCAGAGGCTGT 0.587000 60 47 0 0 0.000781405 0 0 MAST4 375449 broad.mit.edu 37 5 66398379 66398379 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:66398379C>T uc021xzk.1 + 8 1394 c.1086C>T c.(1084-1086)ccC>ccT p.P362P MAST4_uc003jus.3_Silent_p.P173P|MAST4_uc003jut.2_Silent_p.P173P|MAST4_uc003juu.1_Silent_p.P183P|MAST4_uc011cra.1_Silent_p.P156P|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Silent_p.P168P|MAST4_uc003juw.3_Silent_p.P168P NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 365 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GACGTTCTCCCGCCTGCTGTG 0.383000 54 33 0 0 0.00128727 0 0 C16orf62 57020 broad.mit.edu 37 16 19628025 19628025 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:19628025C>T uc002dgn.2 + 13 1434 c.1119C>T c.(1117-1119)gtC>gtT p.V373V C16orf62_uc002dgo.2_Intron|C16orf62_uc002dgp.2_Silent_p.V122V|C16orf62_uc002dgm.2_Silent_p.V462V NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA. 373 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGGATACGGTCCAGAACCAGC 0.507000 39 15 0 0 0.000422831 0 0 OR7D2 162998 broad.mit.edu 37 19 9296799 9296799 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9296799C>T uc002mkz.1 + 0 530 c.342C>T c.(340-342)ctC>ctT p.L114L NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 114 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 ACACGCTACTCCTGACCGTGA 0.507000 81 52 0 0 0.000781405 0 0 FAM175B 23172 broad.mit.edu 37 10 126523138 126523138 + Silent SNP G A A rs115537499 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:126523138G>A uc001lib.4 + 8 891 c.846G>A c.(844-846)cgG>cgA p.R282R NM_032182 NP_115558 Q15018 F175B_HUMAN Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA. 282 BRISC complex polyubiquitin binding NS(1) 1 TCAGTCCTCGGATGCCGTCCT 0.502000 27 22 0 0 0.000586117 0 0 KAT2B 8850 broad.mit.edu 37 3 20193934 20193934 + Nonsense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:20193934G>T uc003cbq.3 + 17 2862 c.2416G>T c.(2416-2418)Gag>Tag p.E806* NM_003884 NP_003875 Q92831 KAT2B_HUMAN Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA. 806 Bromo. N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CAACCCCCCTGAGAGTGAATA 0.393000 19 12 4.3838e-07 2.58503e-06 0.000151284 1 0 DNAH7 56171 broad.mit.edu 37 2 196689005 196689005 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:196689005G>A uc002utj.4 - 48 9366 c.9265C>T c.(9265-9267)Cat>Tat p.H3089Y NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3089 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGAAGATAATGAGGATTTCTT 0.368000 38 20 0 0 0.000229342 0 0 HUNK 30811 broad.mit.edu 37 21 33371423 33371423 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:33371423C>T uc002yph.3 + 10 2431 c.2071C>T c.(2071-2073)Ctg>Ttg p.L691L NM_014586 NP_055401 P57058 HUNK_HUMAN Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA. 691 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GGAGGCCAGCCTGCCCCCACT 0.607000 40 22 0 0 0.000375601 0 0 FAT2 2196 broad.mit.edu 37 5 150946169 150946169 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:150946169G>A uc003lue.4 - 0 2337 c.2324C>T c.(2323-2325)gCt>gTt p.A775V FAT2_uc010jhx.1_Missense_Mutation_p.A775V NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 775 Cadherin 6. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGGGAGCAGCTACAGTGAG 0.502000 30 22 0 0 0.00152264 0 0 MLXIPL 51085 broad.mit.edu 37 7 73013866 73013866 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:73013866C>T uc003tyn.1 - 7 1109 c.1061G>A c.(1060-1062)aGc>aAc p.S354N MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.S354N|MLXIPL_uc003tym.1_Missense_Mutation_p.S354N|MLXIPL_uc003tyl.1_Missense_Mutation_p.S354N|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.S261N|MLXIPL_uc003tyq.1_Missense_Mutation_p.S96N NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 354 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CTGCAGACGGCTGTGTCCAGA 0.637000 47 17 0 0 0.00074312 0 0 OR7G1 125962 broad.mit.edu 37 19 9225760 9225760 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9225760C>T uc021uoi.1 - 0 680 c.680G>A c.(679-681)aGa>aAa p.R227K OR7G1_uc002mks.1_Missense_Mutation_p.R227K NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TGATGGCATTCTCAGAACAGA 0.393000 49 24 0 0 0.000295444 0 0 HEATR1 55127 broad.mit.edu 37 1 236761208 236761208 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:236761208G>A uc001hyd.2 - 4 725 c.573C>T c.(571-573)ttC>ttT p.F191F NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 191 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACTGCAAATGAAATCCATGA 0.353000 35 47 0 0 0.000781405 0 0 CNTN3 5067 broad.mit.edu 37 3 74347205 74347205 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:74347205G>A uc003dpm.1 - 16 2384 c.2304C>T c.(2302-2304)atC>atT p.I768I NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 768 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AATATGGCACGATGCTTTCAT 0.453000 29 21 0 0 0.000229342 0 0 ACADL 33 broad.mit.edu 37 2 211069406 211069406 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:211069406C>T uc002vdz.4 - 7 997 c.769_splice c.e7-1 p.D257_splice NM_001608 NP_001599 P28330 ACADL_HUMAN Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA. 257 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TCTGCGGTATCCTAAGAGACC 0.343000 11 12 0 0 0.00136819 0 0 CAND2 23066 broad.mit.edu 37 3 12869058 12869058 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:12869058C>T uc003bxk.2 + 12 3379 c.3330C>T c.(3328-3330)ttC>ttT p.F1110F CAND2_uc003bxj.2_Silent_p.F993F NM_001162499 NP_001155971 O75155 CAND2_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA. 1110 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTGTGAGTTCCTGAACCATG 0.567000 45 30 0 0 0.000339439 0 0 CDH16 1014 broad.mit.edu 37 16 66947150 66947151 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66947150_66947151CC>TT uc002eql.3 - 8 1131_1132 c.937_938GG>AA c.(937-939)ggc>AAc p.G313N CDH16_uc010cdy.3_Missense_Mutation_p.G313N|CDH16_uc021tjx.1_Missense_Mutation_p.G313N|CDH16_uc002eqm.3_Missense_Mutation_p.G216N NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 313 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ATAGTCCTCGCCATGGGAATTC 0.624000 44 29 0 0 6.4e-05 0 0 OR5W2 390148 broad.mit.edu 37 11 55681498 55681498 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55681498G>A uc010rir.2 - 0 561 c.561C>T c.(559-561)ctC>ctT p.L187L NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGAGCGAGAGAGTAATAAGA 0.383000 33 23 0 0 0.00047179 0 0 ANK1 286 broad.mit.edu 37 8 41530158 41530158 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:41530158C>T uc003xok.3 - 37 4894 c.4810G>A c.(4810-4812)Ggg>Agg p.G1604R NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.G1604R|ANK1_uc003xoj.3_Missense_Mutation_p.G1604R|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Missense_Mutation_p.G1645R NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1604 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GAGAGTGCCCCCTCCAACTTC 0.582000 68 45 0 0 0.000781405 0 0 SLC6A12 6539 broad.mit.edu 37 12 319086 319086 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:319086C>T uc001qhz.3 - 3 731 c.67G>A c.(67-69)Gag>Aag p.E23K SLC6A12_uc001qia.3_Missense_Mutation_p.E23K|SLC6A12_uc001qib.3_Missense_Mutation_p.E23K|SLC6A12_uc009zdh.2_Missense_Mutation_p.E23K|SLC6A12_uc009zdi.1_Non-coding_Transcript NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 23 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) TCCAACTTCTCTCCCTCCTCG 0.617000 36 24 0 0 0.000878237 0 0 PDE1A 5136 broad.mit.edu 37 2 183104895 183104895 + Missense_Mutation SNP C T T rs145482728 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:183104895C>T uc002uos.3 - 3 424 c.340G>A c.(340-342)Gaa>Aaa p.E114K PDE1A_uc010zfp.1_Missense_Mutation_p.E10K|PDE1A_uc002uoq.1_Missense_Mutation_p.E114K|PDE1A_uc010zfq.1_Missense_Mutation_p.E114K|PDE1A_uc002uor.3_Missense_Mutation_p.E98K|PDE1A_uc002uou.3_Missense_Mutation_p.E80K NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 114 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.E114K(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTTGGTTTTTCCTCAGGTTTC 0.418000 57 45 0 0 0.000781405 0 0 RP1 6101 broad.mit.edu 37 8 55541024 55541024 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:55541024A>T uc003xsd.1 + 3 4730 c.4582A>T c.(4582-4584)Atc>Ttc p.I1528F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1528 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTATGAAATAATCAGTAAGAG 0.328000 13 14 0 0 0.000308642 0 0 OR4N2 390429 broad.mit.edu 37 14 20295867 20295867 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20295867C>T uc010tkv.2 + 0 260 c.260C>T c.(259-261)tCt>tTt p.S87F NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTTCCTCTCTGCGAAGAAG 0.522000 107 32 0 0 0.00058488 0 0 PDE6B 5158 broad.mit.edu 37 4 658000 658000 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:658000G>A uc003gap.3 + 16 2172 c.2119G>A c.(2119-2121)Gag>Aag p.E707K PDE6B_uc003gao.4_Missense_Mutation_p.E707K|PDE6B_uc011buy.2_Missense_Mutation_p.E428K|PDE6B_uc011buz.2_Missense_Mutation_p.E139K NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 707 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GACCCGGAAGGAGATCGTCAT 0.617000 31 33 0 0 0.000692331 0 0 ZFAT 57623 broad.mit.edu 37 8 135614806 135614806 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:135614806C>T uc003yup.3 - 5 1342 c.1156G>A c.(1156-1158)Gag>Aag p.E386K ZFAT_uc003yun.3_Missense_Mutation_p.E374K|ZFAT_uc003yuo.3_Missense_Mutation_p.E374K|ZFAT_uc010meh.3_Missense_Mutation_p.E374K|ZFAT_uc010mej.3_Missense_Mutation_p.E324K|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.E374K|ZFAT_uc003yur.3_Missense_Mutation_p.E374K NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TCCAAGGCCTCTTTGACCTTC 0.562000 36 37 0 0 0.000781405 0 0 ARMC4 55130 broad.mit.edu 37 10 28224036 28224036 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:28224036G>A uc009xky.3 - 15 2496 c.2398C>T c.(2398-2400)Caa>Taa p.Q800* ARMC4_uc010qds.2_Nonsense_Mutation_p.Q325*|ARMC4_uc010qdt.2_Nonsense_Mutation_p.Q492*|ARMC4_uc001itz.3_Nonsense_Mutation_p.Q800* NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 800 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACAAGTGGTTGAATGCCACCA 0.448000 26 22 0 0 0.00047179 0 0 OR10J3 441911 broad.mit.edu 37 1 159284246 159284246 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:159284246G>A uc010piu.2 - 0 204 c.204C>T c.(202-204)tcC>tcT p.S68S NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TCTCAGAGATGGATAGCATGC 0.498000 64 16 0 0 0.000566183 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388872 39388872 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39388872C>T uc021txg.1 + 0 158 c.119C>T c.(118-120)tCc>tTc p.S40F NM_031962 NP_114168 Q9BYQ3 KRA93_HUMAN Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA. 40 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGTGTTTCCAGCTGCTGC 0.622000 23 28 0 0 0.000491102 0 0 C16orf71 146562 broad.mit.edu 37 16 4797551 4797551 + Missense_Mutation SNP G C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:4797551G>C uc002cxn.3 + 8 1950 c.1488G>C c.(1486-1488)agG>agC p.R496S NM_139170 NP_631909 Q8IYS4 CP071_HUMAN Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA. 496 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CAAGAGGCAGGCCCAGAGCCC 0.632000 5 6 0 0 0.00116845 0 0 SERINC5 256987 broad.mit.edu 37 5 79446751 79446751 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:79446751G>A uc011ctj.2 - 8 1164 c.1007C>T c.(1006-1008)tCg>tTg p.S336L SERINC5_uc003kgj.3_Missense_Mutation_p.S336L|SERINC5_uc003kgm.3_Missense_Mutation_p.S336L|SERINC5_uc003kgk.3_Missense_Mutation_p.S334L|SERINC5_uc003kgl.3_Non-coding_Transcript NM_001174072 NP_001167543 Q86VE9 SERC5_HUMAN Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA. 336 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GTCAGAACTCGATCTTGTTGT 0.463000 58 46 0 0 0.000781405 0 0 LRCH4 4034 broad.mit.edu 37 7 100174612 100174612 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100174612T>A uc003uvj.3 - 12 1434 c.1381A>T c.(1381-1383)Agt>Tgt p.S461C LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR NM_002319 NP_002310 O75427 LRCH4_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA. 461 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGGAGGCACTGGACTTAGGC 0.632000 5 6 0 0 0.00116845 0 0 TTC3 7267 broad.mit.edu 37 21 38511016 38511016 + Splice_Site SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:38511016T>C uc002yvz.3 + 19 1764 c.1659_splice c.e19+2 p.E553_splice TTC3_uc011aee.1_Splice_Site_p.E243_splice|TTC3_uc002ywa.3_Splice_Site_p.E553_splice|TTC3_uc002ywb.3_Splice_Site_p.E553_splice|TTC3_uc010gnf.3_Splice_Site_p.E318_splice|TTC3_uc002ywc.3_Splice_Site_p.E243_splice|TTC3_uc011aed.1_Splice_Site_p.E243_splice|TTC3_uc010gne.1_Splice_Site_p.E553_splice NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 553 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CAGCCTGAGGTAAGATTTGTA 0.333000 39 27 0 0 0.000878237 0 0 GPR98 84059 broad.mit.edu 37 5 90041002 90041002 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:90041002G>A uc003kju.3 + 50 10785 c.10689G>A c.(10687-10689)aaG>aaA p.K3563K GPR98_uc003kjt.3_Silent_p.K1269K|GPR98_uc003kjv.3_Silent_p.K1163K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3563 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTCAAGCAAGAATTTAATAG 0.388000 110 50 0 0 0.000781405 0 0 PAX8 7849 broad.mit.edu 37 2 113984806 113984806 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:113984806G>A uc010yxt.2 - 9 1281 c.1115C>T c.(1114-1116)cCc>cTc p.P372L PAX8_uc010yxu.2_Missense_Mutation_p.P346S|PAX8_uc002tjm.3_Missense_Mutation_p.P269S|PAX8_uc002tjn.3_Intron NM_003466 NP_003457 Q06710 PAX8_HUMAN Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA. 372 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TGGGTATCCGGGCAGCGTGGG 0.617000 T PPARG follicular thyroid Thyroid dysgenesis 7 7 0 0 0.000157383 0 0 OR7G2 390882 broad.mit.edu 37 19 9213580 9213580 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9213580G>A uc010xkk.2 - 0 403 c.403C>T c.(403-405)Ctc>Ttc p.L135F NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GCTGCAAGGAGACAATTTTCC 0.507000 28 26 0 0 0.000720815 0 0 PTPRS 5802 broad.mit.edu 37 19 5245958 5245958 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:5245958T>C uc002mbv.3 - 9 1051 c.817A>G c.(817-819)Atg>Gtg p.M273V PTPRS_uc002mbu.1_Missense_Mutation_p.M260V|PTPRS_uc010xin.2_Missense_Mutation_p.M260V|PTPRS_uc002mbw.3_Missense_Mutation_p.M260V|PTPRS_uc002mbx.3_Missense_Mutation_p.M264V|PTPRS_uc002mby.3_Missense_Mutation_p.M260V NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 273 Ig-like C2-type 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ACGTATGGCATGGGCGAGCCC 0.647000 7 5 0 0 0.00116845 0 0 ZNF345 25850 broad.mit.edu 37 19 37368585 37368586 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:37368585_37368586CC>TT uc002oex.3 + 2 1234_1235 c.853_854CC>TT c.(853-855)cct>TTt p.P285F ZNF345_uc021utn.1_Missense_Mutation_p.P285F|ZNF345_uc002oey.4_Missense_Mutation_p.P285F|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.P285F|ZNF345_uc021utp.1_Missense_Mutation_p.P285F|ZNF345_uc021utq.1_Missense_Mutation_p.P285F NM_003419 NP_003410 Q14585 ZN345_HUMAN Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA. 285 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGTGAGAAACCTTATGTATGT 0.406000 41 24 0 0 6.4e-05 0 0 ZNF831 128611 broad.mit.edu 37 20 57766570 57766570 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:57766570C>T uc002yan.3 + 0 496 c.496C>T c.(496-498)Cac>Tac p.H166Y NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 166 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CATCCGGTCCCACACGGGTGA 0.617000 64 39 0 0 0.000509022 0 0 MCTP2 55784 broad.mit.edu 37 15 94882563 94882563 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:94882563C>T uc002btj.3 + 3 747 c.682C>T c.(682-684)Ctg>Ttg p.L228L MCTP2_uc010urg.1_Silent_p.L228L|MCTP2_uc002bti.2_Silent_p.L228L|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.L228L|MCTP2_uc002btg.4_Silent_p.L228L|MCTP2_uc002bth.4_Silent_p.L228L NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 228 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TGGGAAGACGCTGTACAAAAG 0.358000 70 54 0 0 0.000781405 0 0 UPF1 5976 broad.mit.edu 37 19 18976861 18976861 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:18976861C>T uc002nkg.3 + 22 3554 c.3279C>T c.(3277-3279)taC>taT p.Y1093Y UPF1_uc002nkf.3_Silent_p.Y1082Y|UPF1_uc002nkh.3_Silent_p.Y337Y NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 1093 Gln/Ser-rich. DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGGACAGTTACCTTGGTGACG 0.562000 19 10 0 0 0.000673444 0 0 ASB15 142685 broad.mit.edu 37 7 123268983 123268983 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:123268983T>G uc003vku.1 + 9 1227 c.935T>G c.(934-936)aTt>aGt p.I312S ASB15_uc003vkw.1_Missense_Mutation_p.I312S NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 312 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CTAACACCAATTCACTCAGCA 0.383000 23 18 0 0 0.000958276 0 0 CHI3L2 1117 broad.mit.edu 37 1 111784004 111784004 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:111784004C>T uc001eam.3 + 8 1045 c.974C>T c.(973-975)cCc>cTc p.P325L CHI3L2_uc001ean.3_Missense_Mutation_p.P315L|CHI3L2_uc001eao.3_Missense_Mutation_p.P246L NM_004000 NP_001020370 Q15782 CH3L2_HUMAN Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA. 325 chitin catabolic process extracellular space cation binding|chitinase activity p.V324F(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CAACAGGTTCCCTACGCAGTC 0.537000 21 10 0 0 0.000219431 0 0 DNAH7 56171 broad.mit.edu 37 2 196771428 196771428 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:196771428C>T uc002utj.4 - 26 4391 c.4290G>A c.(4288-4290)atG>atA p.M1430I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1430 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCCAGGGTTCATTGTTATAA 0.368000 23 16 0 0 0.00074312 0 0 NOMO1 23420 broad.mit.edu 37 16 14970280 14970280 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:14970280C>T uc002dcv.3 + 20 2487 c.2421C>T c.(2419-2421)atC>atT p.I807I Mir_548_uc021tdj.1_5'Flank NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 807 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 AAGGCCAGATCCACCCCGAGT 0.507000 66 29 0 0 0.00058488 0 0 IGSF22 283284 broad.mit.edu 37 11 18730970 18730970 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:18730970C>T uc009yht.2 - 17 3152 c.2962G>A c.(2962-2964)Gag>Aag p.E988K IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 887 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTGTCTAGCTCCACAGGCTCC 0.577000 8 36 0 0 0.00170553 0 0 RYR1 6261 broad.mit.edu 37 19 39075687 39075687 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:39075687C>T uc002oit.3 + 101 14881 c.14751C>T c.(14749-14751)ttC>ttT p.F4917F RYR1_uc002oiu.3_Silent_p.F4912F NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4917 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGTGGTCTTCGACATCACCT 0.607000 15 13 0 0 0.000151284 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314443 25314443 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:25314443C>T uc003grl.4 + 0 48 c.12C>T c.(10-12)tcC>tcT p.S4S NM_024936 NP_079212 Q9H5U6 ZCHC4_HUMAN Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA. 4 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) TGGCGGCCTCCAGGAATGGGT 0.662000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 106 75 0 0 0.000781405 0 0 GPR180 160897 broad.mit.edu 37 13 95273347 95273347 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:95273347C>T uc001vly.3 + 5 830 c.752C>T c.(751-753)tCc>tTc p.S251F GPR180_uc001vlz.3_Missense_Mutation_p.S150F|GPR180_uc010afi.3_Missense_Mutation_p.S12F NM_180989 NP_851320 Q86V85 GP180_HUMAN Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA. 251 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GACATCGCTTCCCAAATTCAG 0.358000 45 32 0 0 0.000814825 0 0 LRRC49 54839 broad.mit.edu 37 15 71211510 71211510 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:71211510G>A uc010ukf.2 + 6 1010 c.704G>A c.(703-705)cGa>cAa p.R235Q LRRC49_uc002asu.3_Missense_Mutation_p.R220Q|LRRC49_uc002asx.3_Missense_Mutation_p.R186Q|LRRC49_uc002asw.3_Missense_Mutation_p.R230Q|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.R202Q NM_001199017 NP_001185946 Q8IUZ0 LRC49_HUMAN Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA. 230 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 CTTAACTTGCGACACAATCAA 0.333000 59 37 0 0 0.000509022 0 0 ZNF16 7564 broad.mit.edu 37 8 146171581 146171581 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:146171581G>A uc003zet.3 - 2 199 c.12C>T c.(10-12)ctC>ctT p.L4L ZNF16_uc003zeu.3_Silent_p.L4L NM_001029976 NP_008889 P17020 ZNF16_HUMAN Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA. 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GGCGAGTTCTGAGGCTGGGCA 0.597000 19 12 0 0 0.000151284 0 0 GPR98 84059 broad.mit.edu 37 5 90012451 90012451 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:90012451C>T uc003kju.3 + 42 9448 c.9352C>T c.(9352-9354)Cag>Tag p.Q3118* GPR98_uc003kjt.3_Nonsense_Mutation_p.Q824*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q718* NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3118 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTGACAGTTCAGTTCATTGT 0.413000 29 23 0 0 0.000295444 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602208 138602208 + Missense_Mutation SNP A C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:138602208A>C uc011kql.2 - 1 2213 c.2164T>G c.(2164-2166)Ttc>Gtc p.F722V KIAA1549_uc011kqj.2_Missense_Mutation_p.F722V NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 722 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCAGAAGGGAAGCTTGACCAT 0.463000 O BRAF pilocytic astrocytoma 54 39 0 0 0.00111076 0 0 NLRC5 84166 broad.mit.edu 37 16 57062269 57062269 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57062269C>T uc021tiu.1 + 6 2342 c.2215C>T c.(2215-2217)Cct>Tct p.P739S NLRC5_uc021tit.1_Missense_Mutation_p.P739S|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.P544S|NLRC5_uc021tiw.1_Missense_Mutation_p.P544S|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 739 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GAAAGCTTTGCCTCTCTGTCC 0.562000 36 24 0 0 0.000720815 0 0 DCAF8 50717 broad.mit.edu 37 1 160250033 160250033 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:160250033G>A uc010pjc.1 - 3 429 c.157C>T c.(157-159)Cca>Tca p.P53S DCAF8_uc001fvs.2_Missense_Mutation_p.P200S|DCAF8_uc021pbq.1_Missense_Mutation_p.P200S|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.P110S NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA. 0 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 AACCATTCTGGATACTAAGAA 0.403000 139 40 0 0 0.00170553 0 0 RNF44 22838 broad.mit.edu 37 5 175958548 175958548 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:175958548G>A uc003mek.1 - 3 906 c.381C>T c.(379-381)atC>atT p.I127I RNF44_uc011dfo.1_Silent_p.I35I|RNF44_uc003mel.1_5'Flank NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN Homo sapiens ring finger protein 44 (RNF44), mRNA. 127 Pro-rich. zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCAGCCAGGGATGTGCTGGC 0.627000 9 6 0 0 0.00116845 0 0 ZNF320 162967 broad.mit.edu 37 19 53384412 53384412 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53384412G>A uc002qag.3 - 3 1158 c.967C>T c.(967-969)Cac>Tac p.H323Y ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.H269Y|ZNF320_uc002qai.3_Missense_Mutation_p.H323Y NM_207333 NP_997216 A2RRD8 ZN320_HUMAN Homo sapiens zinc finger protein 320 (ZNF320), mRNA. 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TCTCCAGTGTGAACTCTACGA 0.408000 39 21 0 0 0.00152264 0 0 PIGO 84720 broad.mit.edu 37 9 35093191 35093191 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:35093191G>T uc003zwd.3 - 5 1351 c.955C>A c.(955-957)Cct>Act p.P319T PIGO_uc003zwe.3_Missense_Mutation_p.P319T|PIGO_uc003zwf.3_Missense_Mutation_p.P319T|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 319 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTAACTTGAGGAATCACCTCT 0.522000 4 21 1.85244e-09 1.09878e-08 0.00047179 1 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362473 105362473 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105362473G>A uc010qqu.1 - 11 2314 c.2247C>T c.(2245-2247)acC>acT p.T749T SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.T641T|SH3PXD2A_uc010qqt.1_Silent_p.T683T|SH3PXD2A_uc009xxn.1_Silent_p.T641T|SH3PXD2A_uc001kxj.1_Silent_p.T806T NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA. 834 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ATTCCTTCTTGGTGGGACATG 0.647000 44 31 0 0 0.000409698 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30883181 30883181 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:30883181G>A uc001rji.1 - 6 1847 c.1096C>T c.(1096-1098)Cca>Tca p.P366S CAPRIN2_uc001rjf.1_Missense_Mutation_p.P163S|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P33S|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P366S|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P366S|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P33S|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P366S|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P33S|CAPRIN2_uc001rjn.1_Missense_Mutation_p.P33S NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA. 366 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex RNA binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACCTCTTGTGGTTGTATCTCT 0.398000 5 32 0 0 0.000692331 0 0 KIAA1467 57613 broad.mit.edu 37 12 13219709 13219709 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:13219709C>T uc001rbi.3 + 5 1011 c.988C>T c.(988-990)Ctg>Ttg p.L330L KIAA1467_uc021qvn.1_Intron NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 330 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGTCTACATCCTGTTTGGCTT 0.493000 5 30 0 0 0.00058488 0 0 IL28RA 163702 broad.mit.edu 37 1 24495953 24495953 + Silent SNP G A A rs141902174 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:24495953G>A uc001bis.3 - 2 348 c.321C>T c.(319-321)tcC>tcT p.S107S IL28RA_uc001bir.3_Silent_p.S107S|IL28RA_uc001bit.3_Silent_p.S107S|IL28RA_uc001biu.3_Silent_p.S23S|IL28RA_uc001biv.3_Silent_p.S107S NM_170743 NP_734464 Q8IU57 I28RA_HUMAN Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA. 107 Fibronectin type-III. cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4) 16 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) AGGGGGACTTGGAGCTGGGAG 0.547000 27 21 0 0 0.000229342 0 0 ZNF554 115196 broad.mit.edu 37 19 2827625 2827625 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:2827625C>T uc002lwm.2 + 2 335 c.137C>T c.(136-138)aCc>aTc p.T46I ZNF554_uc002lwl.2_5'UTR NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN Homo sapiens zinc finger protein 554 (ZNF554), mRNA. 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAATTAGTAACCTTTGAGGAC 0.537000 44 27 0 0 0.000878237 0 0 JARID2 3720 broad.mit.edu 37 6 15513250 15513250 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:15513250C>T uc003nbj.3 + 14 3484 c.3240C>T c.(3238-3240)acC>acT p.T1080T JARID2_uc011div.2_Silent_p.T908T NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 1080 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CTCTCAGTACCATCTCAGCCC 0.572000 102 29 0 0 0.00106085 0 0 THSD4 79875 broad.mit.edu 37 15 72020924 72020924 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:72020924G>A uc002atb.1 + 7 1473 c.1394G>A c.(1393-1395)gGg>gAg p.G465E THSD4_uc002atd.1_Missense_Mutation_p.G139E|THSD4_uc010ukg.1_Missense_Mutation_p.G105E|THSD4_uc002ate.2_Missense_Mutation_p.G105E NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 465 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ATCATCAATGGGAACTGGGCA 0.502000 64 48 0 0 0.000781405 0 0 CUBN 8029 broad.mit.edu 37 10 16982135 16982135 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:16982135G>A uc001ioo.3 - 36 5496 c.5444C>T c.(5443-5445)tCc>tTc p.S1815F NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 1815 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGAGGGAAGGAGTTTCCACA 0.502000 80 53 0 0 0.000781405 0 0 C8orf82 414919 broad.mit.edu 37 8 145753065 145753065 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:145753065G>A uc003zdp.1 - 2 470 c.312C>T c.(310-312)ttC>ttT p.F104F LRRC24_uc003zdm.3_5'Flank|C8orf82_uc003zdq.1_Silent_p.F96F NM_001001795 NP_001001795 Q6P1X6 CH082_HUMAN Homo sapiens chromosome 8 open reading frame 82 (C8orf82), mRNA. 104 endometrium(1)|urinary_tract(1) 2 CGCAGCGCAGGAAGTTGCGCT 0.706000 2 5 0 0 0.000602214 0 0 DIDO1 11083 broad.mit.edu 37 20 61528167 61528167 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:61528167G>A uc002ydr.2 - 6 2082 c.1770C>T c.(1768-1770)ttC>ttT p.F590F DIDO1_uc002yds.2_Silent_p.F590F|DIDO1_uc002ydt.2_Silent_p.F590F|DIDO1_uc002ydu.2_Silent_p.F590F NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 590 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGGTGCCCTTGAAACCTGAGG 0.597000 50 45 0 0 0.000781405 0 0 SEMA3G 56920 broad.mit.edu 37 3 52470059 52470059 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52470059C>T uc003dea.1 - 15 1909 c.1909G>A c.(1909-1911)Gag>Aag p.E637K NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 637 Ig-like C2-type. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) AGCCCCCGCTCCGTGTGCAAG 0.647000 19 10 0 0 0.000673444 0 0 SEPT6 23157 broad.mit.edu 37 X 118786967 118786967 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:118786967G>A uc004erv.3 - 3 643 c.378C>T c.(376-378)ttC>ttT p.F126F SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.F126F|SEPT6_uc004ert.3_Silent_p.F126F|SEPT6_uc004eru.3_Silent_p.F126F|SEPT6_uc004erw.3_Silent_p.F68F|SEPT6_uc011mtv.1_Silent_p.F68F|SEPT6_uc011mtw.1_Silent_p.F156F NM_015129 NP_055944 Q14141 SEPT6_HUMAN Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA. 126 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GGTAGGCCTCGAATTGTGCAT 0.502000 T MLL AML 6 36 0 0 0.000437636 0 0 SNX11 29916 broad.mit.edu 37 17 46198670 46198670 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:46198670G>A uc002inf.1 + 7 967 c.613G>A c.(613-615)Gaa>Aaa p.E205K SNX11_uc010wlg.1_Missense_Mutation_p.E197K|SNX11_uc002ing.1_Missense_Mutation_p.E205K|SNX11_uc010wlh.1_Missense_Mutation_p.E197K|SNX11_uc010wli.1_Missense_Mutation_p.E144K|SNX11_uc010wlj.1_Missense_Mutation_p.E61K|SNX11_uc002inh.1_Missense_Mutation_p.E205K NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA. 205 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 GGACCATTTAGAAGTGTGGGC 0.507000 83 56 0 0 0.000781405 0 0 MACF1 23499 broad.mit.edu 37 1 39824417 39824417 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:39824417C>T uc021olw.1 + 9 7312 c.7312C>T c.(7312-7314)Caa>Taa p.Q2438* MACF1_uc021ols.1_Nonsense_Mutation_p.Q1936*|MACF1_uc001cdc.2_Nonsense_Mutation_p.Q1936*|MACF1_uc021olt.1_Nonsense_Mutation_p.Q1936*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q1844*|MACF1_uc001cdb.1_Nonsense_Mutation_p.Q1023* NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 4003 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGTATCATCAATTCCAAAA 0.507000 40 29 0 0 0.00106085 0 0 ITGA10 8515 broad.mit.edu 37 1 145532832 145532832 + Splice_Site SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:145532832T>C uc001eoa.3 + 10 1225 c.1149_splice c.e10+2 p.K383_splice ITGA10_uc010oyv.2_Splice_Site_p.K252_splice|ITGA10_uc009wiw.3_Splice_Site_p.K240_splice|ITGA10_uc010oyw.2_Splice_Site_p.K328_splice NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 383 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGGCTAAAGGTTGGACAGATT 0.478000 103 41 0 0 0.000680045 0 0 LOC649330 649330 broad.mit.edu 37 1 12907728 12907728 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12907728C>T uc010obf.2 - 1 641 c.415G>A c.(415-417)Gct>Act p.A139T LOC649330_uc009vno.2_Missense_Mutation_p.A139T NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 139 nucleic acid binding|nucleotide binding GGCACTACAGCCAGAGCAATG 0.498000 55 39 0 0 0.000953801 0 0 RGPD3 653489 broad.mit.edu 37 2 107040789 107040789 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:107040789C>T uc010ywi.1 - 19 3691 c.3634G>A c.(3634-3636)Gat>Aat p.D1212N NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1212 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTGTTTGATCATTTGTCAAA 0.428000 105 84 0 0 0.000781405 0 0 DMD 1756 broad.mit.edu 37 X 32305680 32305680 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:32305680C>T uc004dda.1 - 42 6500 c.6256G>A c.(6256-6258)Gaa>Aaa p.E2086K DMD_uc004dcw.2_Missense_Mutation_p.E742K|DMD_uc004dcx.2_Missense_Mutation_p.E745K|DMD_uc004dcz.2_Missense_Mutation_p.E1963K|DMD_uc004dcy.1_Missense_Mutation_p.E2082K|DMD_uc004ddb.1_Missense_Mutation_p.E2078K|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2086 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTAACTTTTTCCCATTGGAAA 0.398000 2 14 0 0 0.000308642 0 0 CMA1 1215 broad.mit.edu 37 14 24976598 24976598 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:24976598C>T uc001wpp.1 - 1 203 c.173G>A c.(172-174)cGg>cAg p.R58Q CMA1_uc010alx.1_Intron NM_001836 NP_001827 P23946 CMA1_HUMAN Homo sapiens chymase 1, mast cell (CMA1), mRNA. 58 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CACAAAGTTCCGTCTTATAAG 0.478000 36 35 0 0 0.000374591 0 0 ZNF417 147687 broad.mit.edu 37 19 58420218 58420218 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58420218C>T uc002qqq.3 - 2 1627 c.1428G>A c.(1426-1428)aaG>aaA p.K476K ZNF417_uc010yhm.2_Silent_p.K433K|ZNF417_uc002qqr.3_Silent_p.K475K NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN Homo sapiens zinc finger protein 417 (ZNF417), mRNA. 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TCACGCAGTTCTTATTACCAA 0.408000 54 45 0 0 0.000781405 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140778104 140778104 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140778104C>T uc003lkf.2 + 0 410 c.410C>T c.(409-411)tCc>tTc p.S137F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S137F NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 137 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCAAAATTCCTTTGAGCTG 0.413000 35 27 0 0 0.000374591 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604343 26604343 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:26604343G>A uc002has.3 - 2 619 c.132C>T c.(130-132)ctC>ctT p.L44L Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA. GGAGAGGGTGGAGCAAGTGGT 0.547000 33 22 0 0 0.00047179 0 0 FAM71B 153745 broad.mit.edu 37 5 156592594 156592595 + Nonsense_Mutation DNP CG AT AT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:156592594_156592595CG>AT uc003lwn.3 - 0 685_686 c.585_586CG>AT c.(583-588)cccgaa>ccATaa p.E196* NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 196 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGTTGTCTTCGGGTGGTGCGT 0.495000 361 8 0 0 6.4e-05 0 0 FTSJ1 24140 broad.mit.edu 37 X 48341135 48341135 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:48341135C>T uc004djo.1 + 10 1233 c.910C>T c.(910-912)Ccc>Tcc p.P304S FTSJ1_uc004djn.1_Missense_Mutation_p.P302S|FTSJ1_uc011mlw.1_Missense_Mutation_p.P167S NM_012280 NP_036412 Q9UET6 RRMJ1_HUMAN Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA. 304 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding breast(1)|central_nervous_system(1)|lung(4)|skin(1) 7 GGACACGTTTCCCCAGCCCCT 0.642000 2 5 0 0 8.12818e-05 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775390 234775390 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:234775390G>A uc010znf.2 - 1 690 c.452C>T c.(451-453)cCa>cTa p.P151L Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA. CGGCCTGGATGGATTCAACAA 0.522000 7 8 0 0 0.000157383 0 0 EN1 2019 broad.mit.edu 37 2 119604387 119604387 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:119604387C>T uc002tlm.3 - 0 1373 c.357G>A c.(355-357)aaG>aaA p.K119K NM_001426 NP_001417 Q05925 HME1_HUMAN Homo sapiens engrailed homeobox 1 (EN1), mRNA. 119 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GCGGCTGCTCCTTTTTGCAGC 0.677000 46 24 0 0 0.000720815 0 0 LTBP2 4053 broad.mit.edu 37 14 74969359 74969359 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:74969359G>A uc001xqa.3 - 33 5554 c.5167C>T c.(5167-5169)Cca>Tca p.P1723S NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1723 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CACAGACCTGGATGGCTGGCC 0.582000 41 21 0 0 0.00152264 0 0 PFKM 5213 broad.mit.edu 37 12 48535532 48535532 + Silent SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:48535532C>A uc001rrb.2 + 17 1909 c.1635C>A c.(1633-1635)ccC>ccA p.P545P PFKM_uc001rra.2_Silent_p.P159P|PFKM_uc001rrc.3_Silent_p.P474P|PFKM_uc001rrd.3_Silent_p.P159P|PFKM_uc001rre.2_Silent_p.P474P|PFKM_uc021qxj.1_Silent_p.P474P|PFKM_uc001rrg.2_Silent_p.P443P NM_001166686 NP_001160160 P08237 K6PF_HUMAN Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. 474 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GGACTCTACCCAAGAAGAGCT 0.473000 128 6 0.000274275 0.00160792 0.000274275 1 0 PLCL2 23228 broad.mit.edu 37 3 17109548 17109548 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:17109548C>T uc011awc.2 + 5 3267 c.3171C>T c.(3169-3171)acC>acT p.T1057T PLCL2_uc011awd.2_Silent_p.T939T NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 1065 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGAATATTACCATCTTAAAGG 0.403000 49 17 0 0 0.000958276 0 0 DEFB118 117285 broad.mit.edu 37 20 29960908 29960908 + Missense_Mutation SNP G C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:29960908G>C uc002wvr.3 + 1 340 c.307G>C c.(307-309)Gtt>Ctt p.V103L NM_054112 NP_473453 Q96PH6 DB118_HUMAN Homo sapiens defensin, beta 118 (DEFB118), mRNA. 103 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GAAAGATATGGTTGAAGAGTC 0.458000 39 23 0 0 0.000586117 0 0 BTBD9 114781 broad.mit.edu 37 6 38561824 38561825 + Missense_Mutation DNP GG TT TT rs139584819 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:38561824_38561825GG>TT uc003ooa.4 - 3 1040_1041 c.464_465CC>AA c.(463-465)ccc>cAA p.P155Q BTBD9_uc010jwv.3_Missense_Mutation_p.P96Q|BTBD9_uc003ony.4_Missense_Mutation_p.P87Q|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.P155Q NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 155 BACK. cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 AAGTTAACTTGGGAAGTGAGTA 0.421000 398 11 0 0 6.4e-05 0 0 ZNF773 374928 broad.mit.edu 37 19 58017786 58017786 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58017786C>T uc002qox.3 + 3 463 c.323C>T c.(322-324)cCc>cTc p.P108L ZNF773_uc002qoy.3_Missense_Mutation_p.P107L|ZNF773_uc021vcl.1_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN Homo sapiens zinc finger protein 773 (ZNF773), mRNA. 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GTAGAAGTGCCCAGTTCAAAC 0.483000 61 38 0 0 0.000953801 0 0 VARS 7407 broad.mit.edu 37 6 31752211 31752211 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31752211G>A uc003nxe.3 - 11 1959 c.1536C>T c.(1534-1536)ttC>ttT p.F512F VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 512 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CGAGGACCCCGAACTCCACCT 0.597000 457 181 0 0 0.000781405 0 0 CPNE2 221184 broad.mit.edu 37 16 57159865 57159865 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57159865G>A uc010cct.2 + 11 1446 c.1099G>A c.(1099-1101)Gcc>Acc p.A367T CPNE2_uc002eks.2_Missense_Mutation_p.A341T|CPNE2_uc010ccu.2_Missense_Mutation_p.A341T|CPNE2_uc002ekt.1_Missense_Mutation_p.A99T NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN Homo sapiens copine II (CPNE2), mRNA. 341 VWFA. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) ATATCTGTCGGCCATCTGGGC 0.532000 27 19 0 0 0.00121646 0 0 IMMT 10989 broad.mit.edu 37 2 86371633 86371633 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:86371633C>T uc002sqz.4 - 14 2423 c.2035G>A c.(2035-2037)Gag>Aag p.E679K IMMT_uc002sqy.4_Missense_Mutation_p.E420K|IMMT_uc010yte.2_Missense_Mutation_p.E632K|IMMT_uc002srb.4_Missense_Mutation_p.E668K|IMMT_uc002sra.4_Missense_Mutation_p.E678K|IMMT_uc010ytd.2_Missense_Mutation_p.E667K NM_006839 NP_006830 Q16891 IMMT_HUMAN Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 679 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGCAGAGCTCTGGGGGCGGC 0.453000 36 28 0 0 0.001512 0 0 RYR1 6261 broad.mit.edu 37 19 38948853 38948853 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38948853G>A uc002oit.3 + 17 2218 c.2088G>A c.(2086-2088)ggG>ggA p.G696G RYR1_uc002oiu.3_Silent_p.G696G NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 696 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTACCCTGGGGCCGGCGAGG 0.647000 30 15 0 0 0.000566183 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95494943 95494943 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:95494943C>T uc010fhp.3 - 8 c.797_splice c.e8-1 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TGCAGGAGGCCCTACAAAGCA 0.353000 50 36 0 0 0.00170553 0 0 POLR3A 11128 broad.mit.edu 37 10 79739921 79739921 + Silent SNP G A A rs112788477 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:79739921G>A uc001jzn.3 - 29 4135 c.4002C>T c.(4000-4002)ttC>ttT p.F1334F NM_007055 NP_008986 O14802 RPC1_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA. 1334 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCTTCTGCCCGAAGTAGGCAG 0.493000 42 29 0 0 0.00058488 0 0 MYO5C 55930 broad.mit.edu 37 15 52529717 52529717 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:52529717C>T uc010bff.3 - 21 2992 c.2830G>A c.(2830-2832)Gag>Aag p.E944K MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 944 myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CCCTTCTCCTCGTAATTTCGC 0.522000 217 134 0 0 0.000781405 0 0 RYR3 6263 broad.mit.edu 37 15 34147008 34147009 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:34147008_34147009GG>TT uc001zhi.3 + 97 13972_13973 c.13902_13903GG>TT c.(13900-13905)ctgggc>ctTTgc p.G4635C RYR3_uc010bar.3_Missense_Mutation_p.G4630C NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 4635 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGTCAGTCCTGGGCCACTACAA 0.441000 220 9 0 0 6.4e-05 0 0 OR2L2 26246 broad.mit.edu 37 1 248201816 248201816 + Missense_Mutation SNP G A A rs142994715 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248201816G>A uc001idw.3 + 0 343 c.247G>A c.(247-249)Gat>Aat p.D83N OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D83N(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GAtggtttatgattttctgta 0.418000 74 127 0 0 0.000781405 0 0 GRM6 2916 broad.mit.edu 37 5 178408731 178408731 + Missense_Mutation SNP C T T rs145110689 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:178408731C>T uc003mjr.3 - 9 2740 c.2561G>A c.(2560-2562)cGa>cAa p.R854Q GRM6_uc003mjq.3_Missense_Mutation_p.R257Q NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 854 detection of visible light|visual perception integral to plasma membrane p.R854*(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCTCCGCTTTCGCTTCTGCAC 0.612000 56 28 0 0 0.00127121 0 0 WDR19 57728 broad.mit.edu 37 4 39255580 39255580 + Silent SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:39255580C>A uc003gtv.3 + 25 3085 c.2931C>A c.(2929-2931)tcC>tcA p.S977S WDR19_uc011byi.2_Silent_p.S817S|WDR19_uc003gtw.1_Silent_p.S574S NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN Homo sapiens WD repeat domain 19 (WDR19), mRNA. 977 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TTGTCATGTCCAAATGCAACA 0.353000 128 7 0.000157383 0.000923996 0.000157383 1 0 OR2B11 127623 broad.mit.edu 37 1 247614625 247614625 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247614625G>A uc010pyx.2 - 0 660 c.660C>T c.(658-660)ctC>ctT p.L220L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGCCATAGGAGAGAAGGATGA 0.577000 56 22 0 0 0.000229342 0 0 ACACA 31 broad.mit.edu 37 17 35603821 35603821 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:35603821G>A uc002hnm.3 - 18 2461 c.2270C>T c.(2269-2271)cCt>cTt p.P757L ACACA_uc002hnk.3_Missense_Mutation_p.P679L|ACACA_uc002hnl.3_Missense_Mutation_p.P699L|ACACA_uc002hnn.3_Missense_Mutation_p.P757L|ACACA_uc002hno.3_Missense_Mutation_p.P794L|ACACA_uc010cuz.3_Missense_Mutation_p.P757L NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 757 Biotinyl-binding. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCCAGCAGAAGGTGAGCGCAT 0.463000 55 40 0 0 0.00128727 0 0 PSG3 5671 broad.mit.edu 37 19 43376041 43376041 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43376041G>A uc002ovd.1 - 2 725 c.587C>T c.(586-588)tCc>tTc p.S196F PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S196F|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.S196F|PSG3_uc002ovb.3_Missense_Mutation_p.S196F NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 196 Ig-like C2-type 1. defense response|female pregnancy extracellular region p.S196S(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GTTGGTTTCGGACAGCTTCAA 0.522000 102 82 0 0 0.000781405 0 0 SCD5 79966 broad.mit.edu 37 4 83557909 83557909 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:83557909C>T uc003hna.2 - 3 957 c.637G>A c.(637-639)Gga>Aga p.G213R NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA. 213 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) AGACTCTCTCCCCAGATGTAC 0.532000 16 13 0 0 0.000151284 0 0 SYT16 83851 broad.mit.edu 37 14 62463105 62463105 + Nonsense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:62463105G>A uc001xfu.1 + 0 565 c.368G>A c.(367-369)tGg>tAg p.W123* SYT16_uc010tsd.1_Nonsense_Mutation_p.W123* NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 123 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATGTCCCAGTGGCCCAATTGG 0.463000 13 9 0 0 0.000442599 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 22995438 22995438 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:22995438G>A uc003xcz.1 - 8 1198 c.1106C>T c.(1105-1107)tCc>tTc p.S369F NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA. 369 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GAGCTTTTCGGAGCCCACCAG 0.473000 20 25 0 0 0.000586117 0 0 CCDC73 493860 broad.mit.edu 37 11 32663547 32663547 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:32663547C>T uc001mtv.3 - 12 1065 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K CCDC73_uc001mtw.1_Missense_Mutation_p.E331K NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 341 p.H340R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AGTGCTTTTTCATGCTCATTT 0.249000 35 14 0 0 0.000308642 0 0 FBN2 2201 broad.mit.edu 37 5 127624855 127624855 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:127624855C>A uc003kuu.3 - 51 7040 c.6601G>T c.(6601-6603)Ggc>Tgc p.G2201C NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 2201 EGF-like 36; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGGTTGTAGCCCATTGGACAT 0.403000 33 23 6.32553e-13 3.77423e-12 0.000720815 1 0 ARSA 410 broad.mit.edu 37 22 51064664 51064664 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:51064664G>A uc003bna.4 - 4 901 c.639C>T c.(637-639)ctC>ctT p.L213L ARSA_uc021wsd.1_Silent_p.L299L|ARSA_uc021wse.1_Silent_p.L299L|ARSA_uc021wsf.1_Silent_p.L299L|ARSA_uc003bmz.4_Silent_p.L297L NM_001085428 NP_001078897 P15289 ARSA_HUMAN Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA. 297 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CACACCGCAAGAGACCGGAGC 0.652000 15 14 0 0 0.000219431 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44507259 44507259 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:44507259C>T uc002xqd.3 + 1 2307 c.2062C>T c.(2062-2064)Cct>Tct p.P688S ZSWIM3_uc010zxg.2_Missense_Mutation_p.P682S|ZSWIM1_uc010ghi.3_5'Flank NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA. 688 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GGAGGGATTCCCTCCTGCTAC 0.527000 46 34 0 0 0.000692331 0 0 IL12RB1 3594 broad.mit.edu 37 19 18180356 18180356 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:18180356C>T uc002nhx.1 - 11 1360 c.1309_splice c.e11+1 p.A437_splice IL12RB1_uc002nhw.1_Splice_Site_p.A397_splice|IL12RB1_uc010xqb.1_Splice_Site_p.A397_splice NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 397 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 AGGCCATTACCCATTCCAGCC 0.622000 10 7 0 0 8.12818e-05 0 0 ZNF83 55769 broad.mit.edu 37 19 53117670 53117670 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53117670T>A uc002pzu.4 - 1 1392 c.148A>T c.(148-150)Agt>Tgt p.S50C ZNF83_uc002pzv.4_Missense_Mutation_p.S50C|ZNF83_uc010eps.3_Missense_Mutation_p.S50C|ZNF83_uc010ept.3_Missense_Mutation_p.S50C|ZNF83_uc010epu.3_Missense_Mutation_p.S50C|ZNF83_uc010epw.3_Missense_Mutation_p.S50C|ZNF83_uc010epv.3_Missense_Mutation_p.S50C|ZNF83_uc010epx.3_Missense_Mutation_p.S50C|ZNF83_uc010epy.3_Missense_Mutation_p.S50C|ZNF83_uc010epz.3_Missense_Mutation_p.S50C|ZNF83_uc010eqb.2_Missense_Mutation_p.S50C|ZNF83_uc021uyx.1_Missense_Mutation_p.S50C NM_018300 NP_060770 P51522 ZNF83_HUMAN Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA. 50 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ACTAAGGAACTACTGTTGACA 0.363000 40 21 0 0 0.00152264 0 0 ZNF331 55422 broad.mit.edu 37 19 54080169 54080169 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54080169C>T uc002qbx.1 + 6 1789 c.355C>T c.(355-357)Cct>Tct p.P119S ZNF331_uc002qby.1_Missense_Mutation_p.P119S|ZNF331_uc002qbz.1_Missense_Mutation_p.P119S|ZNF331_uc010eqr.1_Missense_Mutation_p.P119S|ZNF331_uc002qca.1_Missense_Mutation_p.P119S|ZNF331_uc021uzg.1_Missense_Mutation_p.P119S|ZNF331_uc021uzh.1_Missense_Mutation_p.P119S|ZNF331_uc002qcb.1_Missense_Mutation_p.P119S|ZNF331_uc002qcc.1_Missense_Mutation_p.P119S|ZNF331_uc002qcd.1_Missense_Mutation_p.P119S NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AGGCACCCCTCCTAGAACACA 0.438000 T ? follicular thyroid adenoma 53 46 0 0 0.000781405 0 0 PLA2R1 22925 broad.mit.edu 37 2 160869882 160869882 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:160869882C>T uc002ube.2 - 9 1768 c.1556G>A c.(1555-1557)tGg>tAg p.W519* PLA2R1_uc010zcp.2_Nonsense_Mutation_p.W519*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.W519* NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 519 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATGTCTCTCCCATCCCTTAAA 0.373000 28 15 0 0 0.000219431 0 0 GEMIN5 25929 broad.mit.edu 37 5 154267830 154267830 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:154267830G>A uc003lvx.3 - 27 4550 c.4467C>T c.(4465-4467)ctC>ctT p.L1489L GEMIN5_uc011ddk.1_Silent_p.L1488L NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 1489 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTTCTGAAGGAGCTCTTGGG 0.498000 46 38 0 0 0.00170553 0 0 NPSR1 387129 broad.mit.edu 37 7 34724190 34724190 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:34724190C>T uc003teh.1 + 1 302 c.174C>T c.(172-174)gtC>gtT p.V58V NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.V58V|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.V58V|NPSR1_uc003tei.1_Silent_p.V58V|NPSR1_uc010kww.1_Silent_p.V58V|NPSR1_uc011kar.1_Silent_p.V58V NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 58 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTCTGTGGGTCCTCTTTGTTT 0.433000 59 21 0 0 0.000720815 0 0 PTPRT 11122 broad.mit.edu 37 20 40727169 40727169 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:40727169G>A uc002xkg.3 - 26 3922 c.3738C>T c.(3736-3738)ttC>ttT p.F1246F PTPRT_uc010ggj.3_Silent_p.F1265F|PTPRT_uc010ggi.3_Silent_p.F449F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1246 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGTGACCACGAAGGCGGCAG 0.517000 37 20 0 0 0.00152264 0 0 RECQL5 9400 broad.mit.edu 37 17 73626700 73626700 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73626700C>T uc010dgl.3 - 13 1927 c.1718_splice c.e13+1 p.E573_splice RECQL5_uc010dgk.3_Splice_Site_p.E546_splice|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA. 573 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGAACTCACTCATCAGCGGTA 0.622000 Other identified genes with known or suspected DNA repair function 45 14 0 0 0.000308642 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334373 37334373 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:37334373C>T uc003aqa.4 + 13 2740 c.2523C>T c.(2521-2523)tcC>tcT p.S841S CSF2RB_uc003aqc.4_Silent_p.S847S NM_000395 NP_000386 P32927 IL3RB_HUMAN Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA. 841 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AACCTTCTTCCCCGGGACCCG 0.632000 78 64 0 0 0.000781405 0 0 HEXA 3073 broad.mit.edu 37 15 72668076 72668076 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:72668076G>A uc002aun.4 - 0 445 c.238C>T c.(238-240)Cgt>Tgt p.R80C CELF6_uc002auk.3_Non-coding_Transcript|HEXA_uc010ukn.2_Missense_Mutation_p.R80C|HEXA_uc010bix.3_Missense_Mutation_p.R80C|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|C15orf34_uc010ukp.1_5'Flank NM_000520 NP_000511 P06865 HEXA_HUMAN Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. 80 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 AGGTAAGGACGGGGCCAAGAC 0.657000 68 58 0 0 0.000781405 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603468 138603468 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:138603468G>A uc011kql.2 - 1 953 c.904C>T c.(904-906)Ccc>Tcc p.P302S KIAA1549_uc011kqj.2_Missense_Mutation_p.P302S NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 302 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCCAAGGAGGGCAACGGTATA 0.522000 O BRAF pilocytic astrocytoma 34 16 0 0 0.000308642 0 0 C15orf55 256646 broad.mit.edu 37 15 34647860 34647860 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:34647860C>T uc010ucc.2 + 7 2033 c.1651C>T c.(1651-1653)Ctt>Ttt p.L551F C15orf55_uc010ucd.2_Missense_Mutation_p.L541F|C15orf55_uc001zif.3_Missense_Mutation_p.L523F NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 523 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CGCCGCTTGCCTTGGAAAGGT 0.587000 T """BRD3, BRD4""" lethal midline carcinoma 52 44 0 0 0.000781405 0 0 TFPT 29844 broad.mit.edu 37 19 54611338 54611338 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54611338C>T uc010yej.1 - 4 1043 c.637G>A c.(637-639)Gtg>Atg p.V213M NM_013342 NP_037474 P0C1Z6 TFPT_HUMAN Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA. 213 DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|cytoplasm DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CTCACCTGCACCGGGGCCAGC 0.711000 T TCF3 pre-B ALL 40 18 0 0 0.000295444 0 0 PTPRG 5793 broad.mit.edu 37 3 62142769 62142769 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:62142769C>T uc003dlb.3 + 6 1430 c.711C>T c.(709-711)gtC>gtT p.V237V PTPRG_uc003dlc.3_Silent_p.V237V NM_002841 NP_002832 P23470 PTPRG_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA. 237 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity p.V237F(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATCCTTTCGTCCTCCGGGACC 0.517000 40 26 0 0 0.00127121 0 0 UBE2MP1 606551 broad.mit.edu 37 16 34404301 34404301 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:34404301C>T uc002edv.1 - 0 c.462G>A Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA. CCCTCGATTTCAATGTTGGGG 0.483000 41 26 0 0 0.001512 0 0 BLM 641 broad.mit.edu 37 15 91333954 91333955 + Missense_Mutation DNP CC AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:91333954_91333955CC>AA uc002bpr.3 + 14 2996_2997 c.2899_2900CC>AA c.(2899-2901)cct>AAt p.P967N BLM_uc010uqh.2_Missense_Mutation_p.P967N|BLM_uc010uqi.2_Missense_Mutation_p.P592N|BLM_uc010bnx.3_Missense_Mutation_p.P967N NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 967 Helicase C-terminal. G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TGCATCTCTCCCTAAATCTGTG 0.421000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 534 15 0 0 6.4e-05 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7527156 7527156 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:7527156C>T uc002mgi.3 + 10 2260 c.2007C>T c.(2005-2007)ttC>ttT p.F669F ARHGEF18_uc010xjm.1_Silent_p.F511F|ARHGEF18_uc002mgh.3_Silent_p.F511F|ARHGEF18_uc002mgj.1_Silent_p.F312F NM_001130955 NP_056133 Q6ZSZ5 ARHGI_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA. 669 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.T669K(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GAGGCCTATTCCGTGGAGGGG 0.607000 25 17 0 0 0.00152264 0 0 SDHA 6389 broad.mit.edu 37 5 235406 235406 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:235406C>T uc011clv.1 + 8 1327 c.1212C>T c.(1210-1212)ccC>ccT p.P404P SDHA_uc003jao.4_Silent_p.P404P|SDHA_uc011clw.2_Silent_p.P356P|SDHA_uc003jaq.4_Silent_p.P179P|SDHA_uc021xvu.1_Silent_p.P179P NM_004168 NP_004159 P31040 DHSA_HUMAN Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA. 404 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CTGTCCTCCCCACCGTGCATT 0.617000 Familial Paragangliomas 28 18 0 0 0.00121646 0 0 PGK2 5232 broad.mit.edu 37 6 49754498 49754498 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:49754498G>A uc003ozu.3 - 0 556 c.403C>T c.(403-405)Ccc>Tcc p.P135S NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 135 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTCCAGAGGGATCTTGGCCC 0.507000 36 12 0 0 0.000151284 0 0 MOG 4340 broad.mit.edu 37 6 29627375 29627375 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29627375G>A uc003nnf.3 + 1 597 c.368G>A c.(367-369)gGa>gAa p.G123E MOG_uc003qzk.2_Missense_Mutation_p.G123E|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.G123E|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Missense_Mutation_p.G53E|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.G123E|MOG_uc003nng.3_Missense_Mutation_p.G123E|MOG_uc003nni.3_Missense_Mutation_p.G123E|MOG_uc003nnh.3_Missense_Mutation_p.G123E|MOG_uc003nnj.3_Missense_Mutation_p.G123E|MOG_uc003nnk.3_Missense_Mutation_p.G123E NM_206809 NP_996532 Q16653 MOG_HUMAN Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA. 123 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane p.E122K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TCAGATGAAGGAGGTTTCACC 0.463000 32 50 0 0 0.000781405 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257234 9257234 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:9257234C>T uc002knv.3 + 8 4233 c.3969C>T c.(3967-3969)ttC>ttT p.F1323F ANKRD12_uc002knw.3_Silent_p.F1300F|ANKRD12_uc002knx.3_Silent_p.F1300F|ANKRD12_uc010dkx.1_Silent_p.F1030F NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1323 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CCAAACAATTCCAAACAATAT 0.398000 57 30 0 0 0.00058488 0 0 SUPT6H 6830 broad.mit.edu 37 17 27014149 27014149 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:27014149C>T uc010crt.3 + 22 2936 c.2744C>T c.(2743-2745)tCc>tTc p.S915F SUPT6H_uc002hby.3_Missense_Mutation_p.S915F|SUPT6H_uc002hbz.1_5'Flank NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 915 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAGGCCGTCTCCCTGGCCCGG 0.542000 68 46 0 0 0.000781405 0 0 ANXA9 8416 broad.mit.edu 37 1 150955615 150955615 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:150955615C>T uc001ewa.2 + 2 504 c.34C>T c.(34-36)Ctc>Ttc p.L12F NM_003568 NP_003559 O76027 ANXA9_HUMAN Homo sapiens annexin A9 (ANXA9), mRNA. 12 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCACCGTCCCTCACCCAGGA 0.582000 33 45 0 0 0.000781405 0 0 TBC1D2 55357 broad.mit.edu 37 9 100961797 100961797 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:100961797G>A uc011lvb.2 - 12 2833 c.2653C>T c.(2653-2655)Cac>Tac p.H885Y TBC1D2_uc004ayp.3_Missense_Mutation_p.H425Y|TBC1D2_uc004ayq.3_Missense_Mutation_p.H874Y|TBC1D2_uc004ayr.3_Missense_Mutation_p.H667Y NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA. 885 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CGCTCCCGGTGGACCATGCGC 0.632000 34 68 0 0 0.000781405 0 0 ASPHD2 57168 broad.mit.edu 37 22 26830365 26830366 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:26830365_26830366GG>TT uc003acg.2 + 1 1181_1182 c.784_785GG>TT c.(784-786)ggg>TTg p.G262L NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA. 262 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GACCTGTATTGGGAACAATGTT 0.530000 132 7 0 0 6.4e-05 0 0 HIP1 3092 broad.mit.edu 37 7 75182832 75182833 + Silent DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:75182832_75182833GG>AA uc003uds.2 - 21 2259_2260 c.2214_2215CC>TT c.(2212-2217)tccctg>tcTTtg p.738_739SL>SL HIP1_uc011kfz.2_Silent_p.738_739SL>SL NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 738 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TCTTCCTCCAGGGAGGCCAGGT 0.525000 T PDGFRB CMML 36 38 0 0 6.4e-05 0 0 ATF2 1386 broad.mit.edu 37 2 175976345 175976345 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:175976345C>T uc002ujl.3 - 9 1041 c.779G>A c.(778-780)gGa>gAa p.G260E ATF2_uc002ujv.3_Missense_Mutation_p.G7E|ATF2_uc002ujm.3_Missense_Mutation_p.G202E|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.G260E|ATF2_uc010fqu.3_Missense_Mutation_p.G242E|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.G202E|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.G211E|ATF2_uc002ujw.1_Missense_Mutation_p.G202E|ATF2_uc002ujx.1_Non-coding_Transcript NM_001880 NP_001871 P15336 ATF2_HUMAN Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA. 260 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK 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 nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) ACCTGGGATTCCTGGAACACT 0.393000 74 45 0 0 0.000781405 0 0 FAM135B 51059 broad.mit.edu 37 8 139144923 139144923 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:139144923G>A uc003yuy.3 - 19 4305 c.4134C>T c.(4132-4134)atC>atT p.I1378I FAM135B_uc003yux.3_Silent_p.I1279I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1378 p.L1377L(1) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGGCTCGGCCGATCAGGGTGT 0.537000 HNSCC(54;0.14) 115 81 0 0 0.000781405 0 0 ERBB2 2064 broad.mit.edu 37 17 37883082 37883082 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:37883082C>T uc002hso.3 + 24 3223 c.2985C>T c.(2983-2985)ggC>ggT p.G995G ERBB2_uc010cwa.3_Silent_p.G980G|ERBB2_uc002hsm.3_Silent_p.G965G|ERBB2_uc002hsp.3_Silent_p.G798G|ERBB2_uc010cwb.3_Silent_p.G995G|ERBB2_uc010wek.2_Silent_p.G719G NM_004448 NP_001005862 P04626 ERBB2_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. 995 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGGACTTGGGCCCAGCCAGTC 0.622000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 30 34 0 0 0.000692331 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103574820 103574820 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:103574820C>T uc001ymk.3 + 9 2018 c.1942C>T c.(1942-1944)Ctg>Ttg p.L648L NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA. 648 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCAGCGGCACCTGGAGACTCT 0.592000 65 36 0 0 0.000509022 0 0 ITGA3 3675 broad.mit.edu 37 17 48149481 48149481 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:48149481C>T uc010dbm.3 + 6 1555 c.1091C>T c.(1090-1092)cCc>cTc p.P364L ITGA3_uc010dbl.3_Missense_Mutation_p.P364L NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 364 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity p.P364R(2) endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CTTCATGGCCCCAGTGGCTCT 0.557000 44 42 0 0 0.000781405 0 0 INTS3 65123 broad.mit.edu 37 1 153723710 153723710 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:153723710G>A uc009wom.3 + 7 945 c.724G>A c.(724-726)Gaa>Aaa p.E242K INTS3_uc001fct.3_Missense_Mutation_p.E242K|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_Missense_Mutation_p.E36K|INTS3_uc010peb.2_Missense_Mutation_p.E36K|INTS3_uc001fcw.3_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN Homo sapiens integrator complex subunit 3 (INTS3), mRNA. 243 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing SOSS complex|integrator complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTGCTTCGGGAACGGGTGAG 0.517000 33 32 0 0 0.00128727 0 0 C5orf30 90355 broad.mit.edu 37 5 102612106 102612106 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:102612106G>A uc003kog.1 + 2 755 c.486G>A c.(484-486)agG>agA p.R162R C5orf30_uc003koh.1_Silent_p.R162R|C5orf30_uc021yca.1_Silent_p.R162R NM_033211 NP_149988 Q96GV9 CE030_HUMAN Homo sapiens chromosome 5 open reading frame 30 (C5orf30), mRNA. 162 NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) AAGGTAAGAGGGCTCACTCCA 0.468000 21 20 0 0 0.000295444 0 0 RNF17 56163 broad.mit.edu 37 13 25418818 25418818 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:25418818G>A uc001upr.3 + 20 2901 c.2860G>A c.(2860-2862)Gaa>Aaa p.E954K RNF17_uc010tdd.1_Missense_Mutation_p.E813K|RNF17_uc010tde.2_Missense_Mutation_p.E954K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E893K|RNF17_uc010aac.3_Missense_Mutation_p.E152K|RNF17_uc010aad.3_Missense_Mutation_p.E6K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 954 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGCTGCTTATGAAAACTCAAA 0.328000 47 37 0 0 0.00170553 0 0 TMEM156 80008 broad.mit.edu 37 4 39000388 39000388 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:39000388G>A uc003gto.3 - 1 338 c.230C>T c.(229-231)cCc>cTc p.P77L TMEM156_uc010ifj.3_Missense_Mutation_p.P77L NM_024943 NP_079219 Q8N614 TM156_HUMAN Homo sapiens transmembrane protein 156 (TMEM156), mRNA. 77 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 AAAATTGGAGGGATTTAGAAA 0.368000 15 6 0 0 8.12818e-05 0 0 LRCH4 4034 broad.mit.edu 37 7 100175319 100175320 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100175319_100175320GG>AA uc003uvj.3 - 8 1136_1137 c.1083_1084CC>TT c.(1081-1086)gtcccc>gtTTcc p.P362S LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript NM_002319 NP_002310 O75427 LRCH4_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA. 362 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTCCCCGGGGACATGGCTGT 0.663000 74 45 0 0 6.4e-05 0 0 TRNT1 51095 broad.mit.edu 37 3 3170788 3170788 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:3170788C>T uc003bpp.4 + 1 166 c.64C>T c.(64-66)Ctt>Ttt p.L22F TRNT1_uc003bpk.2_Non-coding_Transcript|TRNT1_uc010hbv.3_Missense_Mutation_p.L22F|TRNT1_uc003bpm.2_Non-coding_Transcript|TRNT1_uc003bpn.1_Non-coding_Transcript|TRNT1_uc003bpo.1_5'Flank NM_182916 NP_886552 Q96Q11 TRNT1_HUMAN Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA. 22 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) TAGGCTGTGCCTTCCGAAGCA 0.493000 47 33 0 0 0.000409698 0 0 TACC2 10579 broad.mit.edu 37 10 123971070 123971070 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:123971070C>T uc001lfv.3 + 8 7490 c.7130C>T c.(7129-7131)tCc>tTc p.S2377F TACC2_uc001lfw.3_Missense_Mutation_p.S523F|TACC2_uc009xzx.3_Missense_Mutation_p.S2332F|TACC2_uc010qtv.2_Missense_Mutation_p.S2381F|TACC2_uc001lfx.3_Missense_Mutation_p.S81F|TACC2_uc001lfy.3_Missense_Mutation_p.S81F|TACC2_uc001lfz.3_Missense_Mutation_p.S455F|TACC2_uc001lga.3_Missense_Mutation_p.S455F|TACC2_uc009xzy.3_Missense_Mutation_p.S455F|TACC2_uc001lgb.3_Missense_Mutation_p.S412F|TACC2_uc010qtw.1_Missense_Mutation_p.S472F NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2377 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGTGATGAGTCCGTTGACCCC 0.493000 84 74 0 0 0.000781405 0 0 FAM179A 165186 broad.mit.edu 37 2 29240726 29240726 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:29240726G>A uc010ezl.3 + 9 1615 c.1264G>A c.(1264-1266)Gac>Aac p.D422N FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 422 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATGCAGAAACGACGTCAGCAT 0.667000 17 9 0 0 0.000442599 0 0 RFX6 222546 broad.mit.edu 37 6 117248462 117248462 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:117248462C>T uc003pxm.3 + 16 2221 c.2158C>T c.(2158-2160)Cat>Tat p.H720Y NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 720 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 ACTCTATCCTCATCACACCGA 0.527000 4 12 0 0 0.000978159 0 0 GPR85 54329 broad.mit.edu 37 7 112724689 112724689 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:112724689T>A uc010ljv.2 - 1 605 c.88A>T c.(88-90)Ata>Tta p.I30L GPR85_uc003vgp.1_Missense_Mutation_p.I30L|GPR85_uc003vgq.2_Missense_Mutation_p.I30L|GPR85_uc010ljw.1_Missense_Mutation_p.I30L|GPR85_uc022akd.1_Missense_Mutation_p.I30L NM_001146266 NP_061843 P60893 GPR85_HUMAN Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA. 30 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 ACTCCTATTATGAAACCCAAG 0.453000 37 17 0 0 0.000958276 0 0 CDC14C 168448 broad.mit.edu 37 7 48965380 48965380 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:48965380C>T uc010kyv.1 + 0 1224 c.1112C>T c.(1111-1113)tCc>tTc p.S371F Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA. GATGACATTTCCATAAATGGG 0.483000 16 8 0 0 0.000157383 0 0 OR10K1 391109 broad.mit.edu 37 1 158436191 158436191 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158436191C>T uc010pij.2 + 0 840 c.840C>T c.(838-840)atC>atT p.I280I NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATACACCATCCTTACCCCAT 0.393000 50 26 0 0 0.001512 0 0 TRPC1 7220 broad.mit.edu 37 3 142503749 142503749 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:142503749C>T uc003evc.3 + 6 1300 c.1164C>T c.(1162-1164)atC>atT p.I388I TRPC1_uc003evb.3_Silent_p.I354I NM_001251845 NP_001238774 P48995 TRPC1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA. 388 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity p.E387E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TGAAATTTATCATTCATGGAG 0.373000 17 14 0 0 0.000219431 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324840 79324840 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:79324840T>A uc010mpk.3 - 7 2474 c.2350A>T c.(2350-2352)Aat>Tat p.N784Y PRUNE2_uc022bih.1_Missense_Mutation_p.N606Y NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 784 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGTAGGATTTCCCCAGGGC 0.493000 6 8 0 0 0.000274275 0 0 ZNF814 730051 broad.mit.edu 37 19 58384955 58384955 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58384955C>T uc002qqo.2 - 2 2075 c.1803G>A c.(1801-1803)gaG>gaA p.E601E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 601 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 CATAAGGCCTCTCTCCAGTAT 0.473000 14 23 0 0 0.000720815 0 0 WDR12 55759 broad.mit.edu 37 2 203764315 203764316 + Missense_Mutation DNP GG TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:203764315_203764316GG>TT uc002uzl.3 - 3 1026_1027 c.276_277CC>AA c.(274-279)ccccag>ccAAag p.Q93K NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 93 cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TGCTCTGGCTGGGGTGCAGTAT 0.396000 560 14 0 0 6.4e-05 0 0 MYO18B 84700 broad.mit.edu 37 22 26164791 26164791 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:26164791G>A uc003abz.1 + 3 1158 c.908G>A c.(907-909)gGg>gAg p.G303E MYO18B_uc003aca.1_Missense_Mutation_p.G184E|MYO18B_uc010guy.1_Missense_Mutation_p.G184E|MYO18B_uc010guz.1_Missense_Mutation_p.G184E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 303 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 AAGGACGTAGGGAGTGAAGGG 0.587000 5 3 0 0 6.4e-05 0 0 HUWE1 10075 broad.mit.edu 37 X 53642793 53642793 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:53642793T>G uc004dsp.3 - 21 2363 c.1961A>C c.(1960-1962)gAt>gCt p.D654A NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 654 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGATGCAGTATCCCCTTAAGG 0.418000 2 8 0 0 0.000442599 0 0 NUFIP1 26747 broad.mit.edu 37 13 45563205 45563205 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:45563205A>G uc001uzp.2 - 0 409 c.367T>C c.(367-369)Tct>Cct p.S123P KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank NM_012345 NP_036477 Q9UHK0 NUFP1_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA. 123 RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) CTATCAGAAGACTGTCTCCAA 0.537000 25 14 0 0 0.00074312 0 0 SLC10A3 8273 broad.mit.edu 37 X 153715943 153715943 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:153715943G>A uc022cig.1 - 0 1337 c.1337C>T c.(1336-1338)tCc>tTc p.S446F UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.S417F|SLC10A3_uc004flq.3_Missense_Mutation_p.S446F|SLC10A3_uc004flp.3_Missense_Mutation_p.S446F NM_019848 NP_062822 P09131 P3_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA. 446 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGGGCCTGGGAGGCATAGTC 0.627000 8 24 0 0 0.000720815 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454455 6454455 + Missense_Mutation SNP A C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6454455A>C uc002mex.1 - 5 816 c.674T>G c.(673-675)aTc>aGc p.I225S SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.I42S NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA. 225 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 CCCCCCAAGGATGTTCAGCCG 0.597000 54 27 0 0 0.001512 0 0 FAM129A 116496 broad.mit.edu 37 1 184775092 184775092 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:184775092G>A uc001gra.3 - 10 1628 c.1434C>T c.(1432-1434)ctC>ctT p.L478L FAM129A_uc001grb.1_Silent_p.L241L|FAM129A_uc009wyh.1_Silent_p.L306L NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 478 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TTAAGACTCGGAGTTTAACCT 0.433000 OREG0014050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 21 0 0 0.000375601 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158027 26158027 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:26158027G>A uc022bub.1 + 0 925 c.925G>A c.(925-927)Gat>Aat p.D309N MAGEB18_uc004dbq.2_Missense_Mutation_p.D309N NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 309 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GGCTTTGAGGGATGAGGAACA 0.522000 1 12 0 0 0.00136819 0 0 NF1 4763 broad.mit.edu 37 17 29486027 29486027 + Splice_Site SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:29486027G>A uc002hgg.3 + 3 588 c.205_splice c.e3-1 p.R69_splice NF1_uc002hge.2_Splice_Site_p.R69_splice|NF1_uc002hgf.2_Splice_Site_p.R69_splice|NF1_uc002hgh.3_Splice_Site_p.R69_splice|NF1_uc010csn.2_Splice_Site NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 69 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTTCTGTTAGAGAATATTTG 0.313000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 41 16 0 0 0.000422831 0 0 OR2T1 26696 broad.mit.edu 37 1 248570104 248570104 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248570104G>A uc010pzm.2 + 0 809 c.809G>A c.(808-810)cGa>cAa p.R270Q NM_030904 NP_112166 O43869 OR2T1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCTATGCCCGAATCCTGACT 0.507000 27 10 0 0 0.000673444 0 0 SP6 80320 broad.mit.edu 37 17 45924965 45924965 + Missense_Mutation SNP C G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:45924965C>G uc002imh.1 - 1 1109 c.831G>C c.(829-831)tgG>tgC p.W277C SP6_uc002img.1_Missense_Mutation_p.W277C|SP6_uc021tzc.1_Missense_Mutation_p.W277C NM_199262 NP_954871 Q3SY56 SP6_HUMAN Homo sapiens Sp6 transcription factor (SP6), mRNA. 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 CGCCGCTGTGCCAGCGCAGGT 0.662000 19 18 0 0 0.00074312 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941080 153941080 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:153941080G>A uc001fdm.1 + 1 347 c.79G>A c.(79-81)Gag>Aag p.E27K SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.E27K|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Missense_Mutation_p.E27K|CREB3L4_uc010peg.1_Missense_Mutation_p.E27K|CREB3L4_uc001fdr.2_Missense_Mutation_p.E27K|CREB3L4_uc001fdq.2_Missense_Mutation_p.E27K NM_130898 NP_570968 Q8TEY5 CR3L4_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA. 27 response to unfolded protein Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATCCGTCCTGGAGCTGGGACT 0.622000 65 31 0 0 0.000339439 0 0 LOC728024 728024 broad.mit.edu 37 8 37604959 37604959 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:37604959C>T uc010lvx.2 - 0 606 c.564G>A c.(562-564)caG>caA p.Q188Q ERLIN2_uc003xke.4_Intron Homo sapiens chromosome X open reading frame 56 pseudogene (LOC728024), non-coding RNA. TGCGCTCCAGCTGTTTTTCAA 0.478000 91 44 0 0 0.000781405 0 0 LIPF 8513 broad.mit.edu 37 10 90427426 90427426 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:90427426A>T uc001kfg.2 + 2 320 c.206A>T c.(205-207)aAa>aTa p.K69I LIPF_uc009xtk.3_Missense_Mutation_p.K69I|LIPF_uc001kfh.2_Missense_Mutation_p.K79I|LIPF_uc010qmt.2_Missense_Mutation_p.K79I|LIPF_uc010qmu.2_Missense_Mutation_p.K69I NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 69 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TATGGGAAGAAAAATTCAGGG 0.353000 65 52 0 0 0.000781405 0 0 ACAN 176 broad.mit.edu 37 15 89401287 89401287 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:89401287G>A uc010upo.1 + 11 5845 c.5471G>A c.(5470-5472)gGt>gAt p.G1824D ACAN_uc010upp.1_Missense_Mutation_p.G1824D|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1824 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGGCAGCGGTGAATCTTCT 0.532000 18 16 0 0 0.000566183 0 0 abParts 0 broad.mit.edu 37 2 90249246 90249246 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:90249246C>T uc010yts.2 + 39 c.5081C>T Parts of antibodies, mostly variable regions. AGCCCCTAAGCTCTTCATCTA 0.502000 61 47 0 0 0.000781405 0 0 DFNA5 1687 broad.mit.edu 37 7 24747848 24747848 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:24747848G>A uc010kus.1 - 6 976 c.888C>T c.(886-888)ttC>ttT p.F296F DFNA5_uc003sxa.1_Silent_p.F296F|DFNA5_uc010kut.1_Silent_p.F132F NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 296 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CAAATGGATGGAAATTCCTCT 0.517000 17 15 0 0 0.000422831 0 0 DNAH2 146754 broad.mit.edu 37 17 7679359 7679359 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7679359G>A uc002giu.1 + 29 4853 c.4839G>A c.(4837-4839)gtG>gtA p.V1613V NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1613 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D1612N(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTGGCGATGTGGAACAGACCA 0.617000 36 23 0 0 0.00127121 0 0 SFTPD 6441 broad.mit.edu 37 10 81701243 81701243 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:81701243C>T uc001kbh.3 - 5 621 c.578G>A c.(577-579)gGa>gAa p.G193E NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 193 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) ACCTGGACTTCCCTGGGGACC 0.507000 43 15 0 0 0.000958276 0 0 USP6 9098 broad.mit.edu 37 17 5058756 5058756 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:5058756C>T uc002gau.1 + 30 4913 c.2683C>T c.(2683-2685)Cgc>Tgc p.R895C USP6_uc002gav.1_Missense_Mutation_p.R895C|USP6_uc010ckz.1_Missense_Mutation_p.R578C NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 895 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCAGGAGAATCGCCCCAGCCT 0.458000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 55 37 0 0 0.000509022 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254924 24254924 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:24254924G>A uc003xdz.2 + 5 802 c.582G>A c.(580-582)ggG>ggA p.G194G ADAMDEC1_uc010lub.2_Silent_p.G115G|ADAMDEC1_uc011lab.1_Silent_p.G115G NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 194 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GCACTGACGGGAAACAAGGCC 0.448000 32 18 0 0 0.00152264 0 0 HELB 92797 broad.mit.edu 37 12 66725067 66725067 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:66725067C>T uc001sti.2 + 11 2832 c.2804C>T c.(2803-2805)gCc>gTc p.A935V HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript NM_033647 NP_387467 Q8NG08 HELB_HUMAN Homo sapiens helicase (DNA) B (HELB), mRNA. 935 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CTCCGGAATGCCATTATGAAA 0.542000 6 53 0 0 0.000781405 0 0 MECOM 2122 broad.mit.edu 37 3 168833494 168833494 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:168833494C>T uc011bpj.1 - 7 2569 c.2166G>A c.(2164-2166)atG>atA p.M722I MECOM_uc010hwk.1_Missense_Mutation_p.M557I|MECOM_uc003ffj.3_Missense_Mutation_p.M599I|MECOM_uc003ffi.3_Missense_Mutation_p.M534I|MECOM_uc011bpi.1_Missense_Mutation_p.M535I|MECOM_uc003ffn.3_Missense_Mutation_p.M534I|MECOM_uc003ffk.2_Missense_Mutation_p.M534I|MECOM_uc003ffl.2_Missense_Mutation_p.M694I|MECOM_uc011bpk.1_Missense_Mutation_p.M534I|MECOM_uc010hwn.2_Missense_Mutation_p.M722I NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 ATTGGGGTTCCATTTTCAAAG 0.458000 18 8 0 0 0.000157383 0 0 ANK3 288 broad.mit.edu 37 10 61955965 61955965 + Missense_Mutation SNP C G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:61955965C>G uc001jky.3 - 15 2163 c.1825G>C c.(1825-1827)Gat>Cat p.D609H ANK3_uc010qih.2_Missense_Mutation_p.D592H|ANK3_uc001jkz.4_Missense_Mutation_p.D603H|ANK3_uc001jlb.1_Missense_Mutation_p.D138H|ANK3_uc001jlc.1_Missense_Mutation_p.D270H NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 609 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 TTCTGATTATCGTAATGTGCA 0.483000 18 14 0 0 0.000219431 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955423 12955423 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12955423C>T uc001auo.3 - 1 329 c.256G>A c.(256-258)Gat>Aat p.D86N NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 86 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCAGTGTATCAAGTCCCCTC 0.607000 6 16 0 0 0.000566183 0 0 BICC1 80114 broad.mit.edu 37 10 60273023 60273023 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:60273023C>T uc001jki.1 + 0 120 c.120C>T c.(118-120)acC>acT p.T40T NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA. 40 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CCGGGGCGACCCTGCACAGCC 0.677000 16 9 0 0 0.000673444 0 0 PCLO 27445 broad.mit.edu 37 7 82579434 82579434 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:82579434C>T uc003uhx.2 - 5 10759 c.10470G>A c.(10468-10470)agG>agA p.R3490R PCLO_uc003uhv.2_Silent_p.R3490R|PCLO_uc010lec.3_Silent_p.R455R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3421 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACGAGCTTTCCTCCTTGATC 0.458000 26 17 0 0 0.00121646 0 0 PLCH1 23007 broad.mit.edu 37 3 155282851 155282851 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:155282851C>T uc021xge.1 - 6 1163 c.886G>A c.(886-888)Gaa>Aaa p.E296K PLCH1_uc021xgd.1_Missense_Mutation_p.E296K|PLCH1_uc021xgf.1_Missense_Mutation_p.E278K NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 296 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGGTACACTTCATGGTGCAAT 0.448000 24 7 0 0 0.000274275 0 0 DEFA5 1670 broad.mit.edu 37 8 6914065 6914065 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:6914065G>A uc003wra.1 - 0 195 c.155C>T c.(154-156)tCt>tTt p.S52F NM_021010 NP_066290 Q01523 DEF5_HUMAN Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA. 52 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TCTAAGAGCAGAGAGTCCATT 0.473000 63 56 0 0 0.000781405 0 0 EPHB3 2049 broad.mit.edu 37 3 184298565 184298565 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:184298565C>T uc003foz.3 + 12 2874 c.2437C>T c.(2437-2439)Cgg>Tgg p.R813W NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 813 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CATAGCCTATCGGAAGTTCAC 0.607000 23 18 0 0 0.00074312 0 0 KDM5B 10765 broad.mit.edu 37 1 202702783 202702783 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:202702783G>T uc009xag.3 - 23 3879 c.3763C>A c.(3763-3765)Ccc>Acc p.P1255T KDM5B_uc001gyf.3_Missense_Mutation_p.P1219T|KDM5B_uc001gyg.1_Missense_Mutation_p.P1061T NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA. 1219 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CGACAATGGGGACAAAGCCAG 0.537000 36 9 0.000274275 0.00160792 0.000274275 1 0 TDRD5 163589 broad.mit.edu 37 1 179603722 179603722 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:179603722G>T uc010pnp.2 + 7 1775 c.1257G>T c.(1255-1257)aaG>aaT p.K419N TDRD5_uc021pfm.1_Missense_Mutation_p.K419N|TDRD5_uc001gnf.2_Missense_Mutation_p.K419N|TDRD5_uc021pfn.1_Missense_Mutation_p.K419N|TDRD5_uc001gnh.2_5'UTR NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 419 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CACAACAGAAGATTTGCAAGA 0.408000 69 25 1.42536e-11 8.4795e-11 0.000720815 1 0 KIAA0226L 80183 broad.mit.edu 37 13 46917580 46917580 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:46917580C>T uc010acl.3 - 14 2534 c.1929G>A c.(1927-1929)cgG>cgA p.R643R KIAA0226L_uc010tfy.2_Silent_p.R166R|KIAA0226L_uc001vbf.4_Silent_p.R576R|KIAA0226L_uc010tfz.2_Silent_p.R486R|KIAA0226L_uc010acn.3_Silent_p.R428R|KIAA0226L_uc010acm.3_Silent_p.R508R|KIAA0226L_uc001vbe.4_Missense_Mutation_p.G592D|KIAA0226L_uc001vbh.4_Silent_p.R643R|KIAA0226L_uc001vbi.4_Silent_p.R486R NM_025113 NP_079389 Q9H714 CM018_HUMAN Homo sapiens KIAA0226-like (KIAA0226L), mRNA. 643 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TCCTCGCACACCGGGGGCACT 0.517000 19 7 0 0 0.000157383 0 0 PRB4 5545 broad.mit.edu 37 12 11461597 11461597 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:11461597C>T uc001qzf.1 - 2 354 c.320G>A c.(319-321)gGa>gAa p.G107E PRB4_uc001qzt.3_Missense_Mutation_p.G107E NM_002723 NP_002714 P10163 PRB4_HUMAN Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA. 149 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region p.G106R(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGACTGGTTTCCTCCTTGTGG 0.612000 HNSCC(22;0.051) 65 97 0 0 0.000781405 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884947 12884947 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12884947C>T uc001auk.2 - 3 1360 c.1164G>A c.(1162-1164)tgG>tgA p.W388* NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 388 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CAAATCTGCTCCAGCAGAGAG 0.493000 141 111 0 0 0.000781405 0 0 UVSSA 57654 broad.mit.edu 37 4 1369270 1369270 + Silent SNP C T T rs143426578 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:1369270C>T uc003gde.4 + 8 1854 c.1407C>T c.(1405-1407)gaC>gaT p.D469D UVSSA_uc010ibv.3_Silent_p.D20D NM_020894 NP_065945 Q2YD98 K1530_HUMAN Homo sapiens KIAA1530 (KIAA1530), mRNA. 469 AGCTCCGGGACCACTTGCCTC 0.672000 34 15 0 0 0.000422831 0 0 TPTE2 93492 broad.mit.edu 37 13 20048054 20048054 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:20048054C>T uc001umd.3 - 7 603 c.392_splice c.e7+1 p.G131_splice TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Splice_Site_p.G94_splice|TPTE2_uc009zzm.3_Splice_Site|TPTE2_uc010tcm.2_Splice_Site NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 131 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCAAACTTACCCTTCTACAAA 0.363000 21 12 0 0 0.00136819 0 0 GLRA3 8001 broad.mit.edu 37 4 175580303 175580303 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:175580303G>A uc003ity.1 - 7 1476 c.973C>T c.(973-975)Ctt>Ttt p.L325F GLRA3_uc003itz.1_Missense_Mutation_p.L325F NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 325 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AACACAAAAAGGAGGCATACT 0.358000 12 8 0 0 0.000157383 0 0 SCTR 6344 broad.mit.edu 37 2 120221773 120221773 + Missense_Mutation SNP G A A rs142033327 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:120221773G>A uc002tma.3 - 5 788 c.562C>T c.(562-564)Cgt>Tgt p.R188C SCTR_uc002tlz.3_Missense_Mutation_p.R10C NM_002980 NP_002971 P47872 SCTR_HUMAN Homo sapiens secretin receptor (SCTR), mRNA. 188 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GACAGGGCACGAAGGATGAAG 0.557000 28 26 0 0 0.000586117 0 0 CDH6 1004 broad.mit.edu 37 5 31294328 31294328 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:31294328T>A uc003jhe.2 + 2 848 c.488T>A c.(487-489)gTt>gAt p.V163D CDH6_uc003jhd.2_Missense_Mutation_p.V163D NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 163 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACCAAGGAGGTTTACACAGCC 0.478000 41 23 0 0 0.000878237 0 0 BARX2 8538 broad.mit.edu 37 11 129306867 129306867 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:129306867C>T uc001qfc.4 + 1 459 c.409C>T c.(409-411)Cgc>Tgc p.R137C NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN Homo sapiens BARX homeobox 2 (BARX2), mRNA. 137 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCGCCGGAGTCGCACCATCTT 0.632000 1 5 0 0 0.000602214 0 0 SCN10A 6336 broad.mit.edu 37 3 38739732 38739732 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:38739732G>A uc003ciq.3 - 26 4979 c.4979C>T c.(4978-4980)tCg>tTg p.S1660L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1660 sensory perception voltage-gated sodium channel complex p.T1659K(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGCCGGCCGACGTGGTAAT 0.607000 41 33 0 0 0.000692331 0 0 ACSBG2 81616 broad.mit.edu 37 19 6156556 6156556 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6156556C>T uc002mef.1 + 4 728 c.501C>T c.(499-501)atC>atT p.I167I ACSBG2_uc002mee.1_Intron|ACSBG2_uc002meg.1_Silent_p.I167I|ACSBG2_uc002meh.1_Silent_p.I167I|ACSBG2_uc002mei.1_Silent_p.I117I|ACSBG2_uc010xiz.1_Silent_p.I167I NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 167 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TACAGAAAATCCTTTCGGTAA 0.463000 79 60 0 0 0.000781405 0 0 PTPN5 84867 broad.mit.edu 37 11 18763942 18763942 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:18763942C>T uc001mpd.3 - 6 1023 c.592G>A c.(592-594)Gag>Aag p.E198K PTPN5_uc001mpb.3_Missense_Mutation_p.E166K|PTPN5_uc001mpc.3_Missense_Mutation_p.E198K|PTPN5_uc010rdj.2_Missense_Mutation_p.E142K|PTPN5_uc001mpf.3_Missense_Mutation_p.E174K|PTPN5_uc001mpe.3_Missense_Mutation_p.E166K|PTPN5_uc010rdk.2_Missense_Mutation_p.E143K NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 198 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 ATCTTCTCCTCCATCCACTCT 0.622000 8 36 0 0 0.000491102 0 0 OR2W3 343171 broad.mit.edu 37 1 248059135 248059135 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248059135T>C uc010pzb.2 + 0 247 c.247T>C c.(247-249)Tac>Cac p.Y83H OR2W3_uc001idp.1_Missense_Mutation_p.Y83H NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCAGCTGCTCTACAACCTTAA 0.587000 78 35 0 0 0.000953801 0 0 BATF3 55509 broad.mit.edu 37 1 212860307 212860307 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:212860307C>T uc001hjl.2 - 2 433 c.210G>A c.(208-210)ctG>ctA p.L70L NM_018664 NP_061134 Q9NR55 BATF3_HUMAN Homo sapiens basic leucine zipper transcription factor, ATF-like 3 (BATF3), mRNA. 70 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781) TTTCTTGCTCCAGGCTCTCAT 0.572000 68 116 0 0 0.000781405 0 0 PPP1R11 6992 broad.mit.edu 37 6 30036459 30036459 + Silent SNP C T T rs140805312 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:30036459C>T uc003npb.3 + 1 418 c.162C>T c.(160-162)ggC>ggT p.G54G PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript NM_021959 NP_068778 O60927 PP1RB_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA. 54 soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 AACACATGGGCCGCCGCTCAT 0.498000 59 31 0 0 0.00178596 0 0 DSCAM 1826 broad.mit.edu 37 21 41719737 41719737 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41719737C>T uc002yyq.1 - 5 1522 c.1070G>A c.(1069-1071)gGa>gAa p.G357E 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. 357 Ig-like C2-type 4. 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) CACATTTTTTCCAGGGTTGAG 0.507000 68 64 0 0 0.000781405 0 0 HYDIN 54768 broad.mit.edu 37 16 71015398 71015398 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:71015398C>T uc002ezr.3 - 28 4554 c.4403G>A c.(4402-4404)aGg>aAg p.R1468K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 1469 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGGAAACTCCTTTTAAAGAC 0.478000 52 49 0 0 0.000781405 0 0 ZNF701 55762 broad.mit.edu 37 19 53086149 53086149 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53086149C>T uc010ydn.2 + 4 1098 c.1035C>T c.(1033-1035)ttC>ttT p.F345F ZNF701_uc002pzs.2_Silent_p.F279F|ZNF701_uc021uyw.1_Silent_p.F345F NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) GCAAGACATTCAGTCACAATT 0.418000 22 17 0 0 0.000566183 0 0 GPR19 2842 broad.mit.edu 37 12 12815020 12815020 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:12815020G>A uc001rar.3 - 1 556 c.363C>T c.(361-363)ttC>ttT p.F121F GPR19_uc001raq.2_Silent_p.F121F|GPR19_uc021qvj.1_Silent_p.F121F NM_006143 NP_006134 Q15760 GPR19_HUMAN Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA. 121 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GGAGCAGGACGAAAGGCGTGC 0.522000 11 39 0 0 0.00128727 0 0 POLE2 5427 broad.mit.edu 37 14 50131859 50131859 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:50131859G>A uc001wwu.3 - 7 776 c.599C>T c.(598-600)cCt>cTt p.P200L NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_5'Flank|POLE2_uc021rsr.1_Missense_Mutation_p.P174L|POLE2_uc010ano.3_Missense_Mutation_p.P200L NM_002692 NP_002683 P56282 DPOE2_HUMAN Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA. 200 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) TGTTCCAGTAGGATCTTCCAG 0.284000 22 15 0 0 0.00121646 0 0 TGIF2 60436 broad.mit.edu 37 20 35240542 35240543 + Missense_Mutation DNP CC TT TT TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35240542_35240543CC>TT uc002xfr.3 + 2 566_567 c.348_349CC>TT c.(346-351)gcccct>gcTTct p.P117S TGIF2_uc002xfo.3_3'UTR|TGIF2_uc002xfs.3_3'UTR|TGIF2_uc002xfq.3_3'UTR|TGIF2_uc002xft.3_Non-coding_Transcript NM_199483 NP_955777 Q9GZN2 TGIF2_HUMAN Homo sapiens chromosome 20 open reading frame 24 (C20orf24), transcript variant 2, mRNA. 230 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GAACCCCAGCCCCTTGGAACTT 0.500000 164 92 0 0 6.4e-05 0 0 SPTA1 6708 broad.mit.edu 37 1 158615073 158615073 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158615073C>T uc001fst.1 - 28 4298 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1367 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCTTTTTTTCAATTTCAGGG 0.507000 32 29 0 0 0.000339439 0 0 NSUN4 387338 broad.mit.edu 37 1 46827414 46827414 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:46827414A>T uc001cpr.1 + 5 1160 c.1051A>T c.(1051-1053)Aca>Tca p.T351S NSUN4_uc010omc.1_Missense_Mutation_p.T302S|NSUN4_uc009vyf.1_Missense_Mutation_p.T200S|NSUN4_uc009vyg.1_Missense_Mutation_p.T302S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA. 351 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) TTTCATGGACACATTTTGTTT 0.488000 72 40 0 0 0.00128727 0 0 CDH16 1014 broad.mit.edu 37 16 66951570 66951570 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66951570C>T uc002eql.3 - 2 298 c.104G>A c.(103-105)gGa>gAa p.G35E CDH16_uc010cdy.3_Missense_Mutation_p.G35E|CDH16_uc021tjx.1_Missense_Mutation_p.G35E|CDH16_uc002eqm.3_Missense_Mutation_p.G35E NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 35 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGGAAATTTCCACCATAGTT 0.582000 13 11 0 0 0.000219431 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140857635 140857635 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140857635A>G uc003lkv.2 + 0 2067 c.1952A>G c.(1951-1953)aAt>aGt p.N651S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.N651S|PCDHGC5_uc003lkw.2_Intron NM_002588 NP_002579 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA. 651 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCAAAGACAATGGGGAGCCT 0.577000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 38 0 0 0.000692331 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95201808 95201808 + Silent SNP C T T rs143809731 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:95201808C>T uc003htb.4 + 19 2667 c.2490C>T c.(2488-2490)ttC>ttT p.F830F SMARCAD1_uc003htc.4_Silent_p.F828F|SMARCAD1_uc003htd.4_Silent_p.F830F|SMARCAD1_uc010ila.3_Silent_p.F693F|SMARCAD1_uc011cdw.2_Silent_p.F398F NM_001128430 NP_001121902 Q9H4L7 SMRCD_HUMAN Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA. 828 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TGACAGACTTCGAACTACATG 0.343000 68 52 0 0 0.000781405 0 0 FGF9 2254 broad.mit.edu 37 13 22275499 22275499 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:22275499C>T uc001uog.2 + 2 1389 c.552C>T c.(550-552)ttC>ttT p.F184F NM_002010 NP_002001 P31371 FGF9_HUMAN Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA. 184 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ACCAGAAATTCACACATTTTT 0.433000 29 12 0 0 0.00136819 0 0 PRUNE 58497 broad.mit.edu 37 1 151006312 151006312 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:151006312C>T uc001ewh.1 + 7 1100 c.964C>T c.(964-966)Cca>Tca p.P322S PRUNE_uc001ewi.1_Missense_Mutation_p.P140S|PRUNE_uc010pco.1_Missense_Mutation_p.P90S|PRUNE_uc001ewj.1_Missense_Mutation_p.P37S|PRUNE_uc001ewk.1_Missense_Mutation_p.P87S|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA. 322 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCCCACTCTCCACCCCTGAA 0.512000 131 42 0 0 0.000680045 0 0 FRMPD2 143162 broad.mit.edu 37 10 49444536 49444537 + Missense_Mutation DNP CC TT TT rs148563650 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:49444536_49444537CC>TT uc001jgi.3 - 8 1312_1313 c.981_982GG>AA c.(979-984)ccggga>ccAAga p.G328R FRMPD2_uc001jgh.3_Missense_Mutation_p.G297R|FRMPD2_uc001jgj.3_Missense_Mutation_p.G297R NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 328 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ACAACCGATCCCGGCAGATGTA 0.550000 36 27 0 0 6.4e-05 0 0 FMN2 56776 broad.mit.edu 37 1 240371608 240371608 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:240371608C>T uc010pye.2 + 5 3733 c.3508C>T c.(3508-3510)Ccc>Tcc p.P1170S FMN2_uc010pyd.2_Missense_Mutation_p.P1166S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 1166 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACCCCCACCTCCCCCTCTACC 0.692000 0 7 0 0 0.000978159 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15881996 15881996 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15881996G>A uc010xor.1 - 3 401 c.381C>T c.(379-381)atC>atT p.I127I CYP4F24P_uc002nbo.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. TGTGCTGGAGGATATGCTGGT 0.552000 31 24 0 0 0.000586117 0 0 SLC12A6 9990 broad.mit.edu 37 15 34536194 34536195 + Nonsense_Mutation DNP GG AA AA rs121908428 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:34536194_34536195GG>AA uc001zhw.3 - 14 2186_2187 c.2022_2023CC>TT c.(2020-2025)ccccga>ccTTga p.R675* SLC12A6_uc001zhv.3_Nonsense_Mutation_p.R624*|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Nonsense_Mutation_p.R660*|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Nonsense_Mutation_p.R616*|SLC12A6_uc001zib.3_Nonsense_Mutation_p.R666*|SLC12A6_uc001zic.3_Nonsense_Mutation_p.R675*|SLC12A6_uc010bau.3_Nonsense_Mutation_p.R675*|SLC12A6_uc001zid.3_Nonsense_Mutation_p.R616*|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Nonsense_Mutation_p.R487* NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA. 675 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TAGCGGAATCGGGGTCTCCAGT 0.411000 82 50 0 0 6.4e-05 0 0 DSCAM 1826 broad.mit.edu 37 21 41414514 41414514 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41414514C>T uc002yyq.1 - 31 5922 c.5470G>A c.(5470-5472)Gaa>Aaa p.E1824K 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. 1824 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) AGTTGCTCTTCCATCTTGGCG 0.537000 42 38 0 0 0.00170553 0 0 LPGAT1 9926 broad.mit.edu 37 1 211952371 211952371 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:211952371C>T uc001hiu.3 - 5 1556 c.743G>A c.(742-744)gGc>gAc p.G248D LPGAT1_uc001hiv.3_Missense_Mutation_p.G248D NM_014873 NP_055688 Q92604 LGAT1_HUMAN Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA. 248 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) CCACTGGAGGCCTTTTGATTT 0.343000 176 51 0 0 0.000781405 0 0 SPEM1 374768 broad.mit.edu 37 17 7345123 7345123 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7345123C>T uc010vtw.1 + 4 412 c.268C>T c.(268-270)Ccg>Tcg p.P90S FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_5'UTR|FGF11_uc002ggz.3_Silent_p.L111L|FGF11_uc010vtx.2_Silent_p.L52L Q8N4L4 SPEM1_HUMAN Homo sapiens fibroblast growth factor 11 (FGF11), mRNA. 215 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) CTGTGGGCCTCCGTGTGGTCA 0.602000 16 13 0 0 0.00074312 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708300 126708300 + Missense_Mutation SNP C G G rs139269120 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:126708300C>G uc003ejg.3 + 0 864 c.864C>G c.(862-864)gaC>gaG p.D288E NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 288 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCTGTGTGGACGACCCCAAAT 0.617000 100 63 0 0 0.000781405 0 0 DIAPH1 1729 broad.mit.edu 37 5 140962857 140962857 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140962857C>A uc003llb.4 - 5 677 c.536G>T c.(535-537)tGg>tTg p.W179L DIAPH1_uc003llc.4_Missense_Mutation_p.W170L|DIAPH1_uc021yep.1_Missense_Mutation_p.W179L|DIAPH1_uc021yeq.1_Missense_Mutation_p.W170L NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 179 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane Rho GTPase binding|actin binding|receptor binding p.W179L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTTGCACCCAACTGTAAGG 0.408000 189 8 0.000673444 0.00394229 0.000673444 1 0 PLAG1 5324 broad.mit.edu 37 8 57080812 57080813 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:57080812_57080813GG>AA uc003xsq.4 - 1 467_468 c.16_17CC>TT c.(16-18)cct>TTt p.P6F PLAG1_uc003xsr.4_Missense_Mutation_p.P6F|PLAG1_uc010lyi.3_Missense_Mutation_p.P6F|PLAG1_uc010lyj.3_Intron|PLAG1_uc022aur.1_5'Flank NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 6 Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CAAATCACCAGGAATGACAGTG 0.460000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 23 4 0 0 6.4e-05 0 0 WNT4 54361 broad.mit.edu 37 1 22456166 22456166 + Missense_Mutation SNP G C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22456166G>C uc001bfs.4 - 1 360 c.256C>G c.(256-258)Cgc>Ggc p.R86G WNT4_uc010odt.2_Missense_Mutation_p.R23G NM_030761 NP_110388 P56705 WNT4_HUMAN Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA. 86 Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CAGTTCCAGCGCCGGTTCCGG 0.662000 26 9 0 0 0.000274275 0 0 LSAMP 4045 broad.mit.edu 37 3 115561418 115561418 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:115561418G>A uc011bis.2 - 4 1164 c.657C>T c.(655-657)ccC>ccT p.P219P LSAMP_uc003ebs.3_Silent_p.P219P NM_002338 NP_002329 Q13449 LSAMP_HUMAN Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA. 219 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CTGTGATAGTGGGAGGATCTG 0.488000 32 30 0 0 0.00111076 0 0 ILDR1 286676 broad.mit.edu 37 3 121707255 121707255 + Splice_Site SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:121707255C>T uc003ees.3 - 8 1803 c.1600_splice c.e8-1 p.E534_splice ILDR1_uc003eeq.3_Splice_Site_p.E502_splice|ILDR1_uc003eer.3_Splice_Site_p.E490_splice|ILDR1_uc010hrg.3_Splice_Site_p.E445_splice NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 534 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CTGTCTTTCTCCTGGGAAATA 0.433000 18 7 0 0 0.000673444 0 0 DAPK3 1613 broad.mit.edu 37 19 3961032 3961032 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:3961032G>A uc002lzc.1 - 5 851 c.757C>T c.(757-759)Cgc>Tgc p.R253C DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Missense_Mutation_p.R253C NM_001348 NP_001339 O43293 DAPK3_HUMAN Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA. 253 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade PML body|cytoplasm ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGCCGGCGAATGAAGTCC 0.622000 35 21 0 0 0.000720815 0 0 COL16A1 1307 broad.mit.edu 37 1 32167755 32167755 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:32167755G>A uc001btk.1 - 1 405 c.40C>T c.(40-42)Ctt>Ttt p.L14F COL16A1_uc001btl.4_Missense_Mutation_p.L14F NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 14 cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GTAGCCCAAAGACCGAGCAGC 0.592000 24 26 0 0 0.00127121 0 0 ZNF28 7576 broad.mit.edu 37 19 53302989 53302989 + Missense_Mutation SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53302989C>A uc002qad.3 - 3 2266 c.2109G>T c.(2107-2109)atG>atT p.M703I ZNF28_uc002qac.3_Missense_Mutation_p.M649I|ZNF28_uc010eqe.3_Missense_Mutation_p.M649I|ZNF28_uc021uza.1_Missense_Mutation_p.M650I NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CAAGGTTTGACATCTGACTGA 0.413000 56 42 5.20837e-25 3.12386e-24 0.000374591 1 0 GPR111 222611 broad.mit.edu 37 6 47649087 47649087 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47649087C>T uc010jzj.1 + 5 793 c.792C>T c.(790-792)atC>atT p.I264I GPR111_uc003oyy.3_Silent_p.I196I NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 264 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GCAGCTATATCCTGCTACATT 0.408000 38 50 0 0 0.000781405 0 0 BRWD1 54014 broad.mit.edu 37 21 40646331 40646331 + Missense_Mutation SNP T A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:40646331T>A uc002yxk.2 - 12 1508 c.1213A>T c.(1213-1215)Att>Ttt p.I405F BRWD1_uc021wjf.1_Missense_Mutation_p.I405F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.I125F NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCCAATAAAATGCTCCTCCAT 0.413000 43 30 0 0 0.000814825 0 0 EGR3 1960 broad.mit.edu 37 8 22548290 22548290 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:22548290C>T uc003xcm.1 - 1 1218 c.860G>A c.(859-861)aGc>aAc p.S287N EGR3_uc011kzn.1_Missense_Mutation_p.S249N|EGR3_uc011kzo.2_Missense_Mutation_p.S233N NM_004430 NP_001186810 Q06889 EGR3_HUMAN Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA. 287 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GTCCGAACGGCTGAAACGGCG 0.697000 31 22 0 0 0.000229342 0 0 C7 730 broad.mit.edu 37 5 40979906 40979906 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:40979906C>T uc003jmh.3 + 16 2359 c.2245C>T c.(2245-2247)Cac>Tac p.H749Y C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 749 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GCATGTTCTCCACTGTCAGGG 0.468000 27 20 0 0 0.00121646 0 0 WDR33 55339 broad.mit.edu 37 2 128474766 128474766 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:128474766G>A uc002tpg.2 - 16 3031 c.2832C>T c.(2830-2832)ccC>ccT p.P944P NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 944 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGTTCAGAGGGGGAATGCGAC 0.488000 13 9 0 0 0.000673444 0 0 CCDC70 83446 broad.mit.edu 37 13 52440032 52440032 + RNA SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:52440032G>A uc010tgr.1 - 0 c.188C>T CCDC70_uc001vfu.4_Missense_Mutation_p.G173E|CCDC70_uc021rjv.1_Missense_Mutation_p.G173E Q6NSX1 CCD70_HUMAN Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA. extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CTCCTTGAGGGGGAGAAAGCC 0.547000 64 37 0 0 0.00148497 0 0 LRMP 4033 broad.mit.edu 37 12 25232684 25232684 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:25232684G>A uc001rgh.3 + 7 1325 c.231G>A c.(229-231)acG>acA p.T77T LRMP_uc001rgg.2_Non-coding_Transcript|LRMP_uc010sja.2_Silent_p.T77T|LRMP_uc010sjc.2_Silent_p.T77T|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.T24T|LRMP_uc010sjd.2_Silent_p.T24T NM_006152 NP_006143 Q12912 LRMP_HUMAN Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA. 133 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) CTTCTCCCACGATAGAGGCCC 0.403000 8 30 0 0 0.00106085 0 0 TRAT1 50852 broad.mit.edu 37 3 108568024 108568024 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:108568024G>A uc003dxi.1 + 4 370 c.226G>A c.(226-228)Gaa>Aaa p.E76K TRAT1_uc010hpx.1_Missense_Mutation_p.E39K NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 76 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGGATGAAAATTGCTA 0.343000 33 20 0 0 0.000375601 0 0 PSD 5662 broad.mit.edu 37 10 104176224 104176224 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:104176224G>A uc001kvg.1 - 1 1099 c.572C>T c.(571-573)tCt>tTt p.S191F PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S191F|PSD_uc001kvi.1_Missense_Mutation_p.S191F|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 191 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ATTGGGGAGAGAGGAGTAAAG 0.657000 19 11 0 0 0.000978159 0 0 abParts 0 broad.mit.edu 37 14 107013292 107013292 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:107013292C>T uc021ser.1 - 218 c.8584G>A Parts of antibodies, mostly variable regions. CCACACATATCCACTGTTTCT 0.488000 28 22 0 0 0.000229342 0 0 PRB4 5545 broad.mit.edu 37 12 11461723 11461723 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:11461723C>T uc001qzf.1 - 2 228 c.194G>A c.(193-195)gGa>gAa p.G65E PRB4_uc001qzt.3_Missense_Mutation_p.G65E NM_002723 NP_002714 P10163 PRB4_HUMAN Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA. 65 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGACTGGTTTCCTCCTTGTGG 0.622000 HNSCC(22;0.051) 178 25 0 0 0.000878237 0 0 LILRB3 11025 broad.mit.edu 37 19 54725813 54725813 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54725813G>A uc010erh.1 - 3 669 c.545C>T c.(544-546)cCt>cTt p.P182L LILRB3_uc002qee.1_Missense_Mutation_p.P182L|LILRB3_uc002qef.1_Missense_Mutation_p.P182L|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Missense_Mutation_p.P182L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Missense_Mutation_p.P182L|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA. 182 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGCCCACAGGGAACAGGGC 0.592000 11 8 0 0 0.000219431 0 0 CDC25A 993 broad.mit.edu 37 3 48205896 48205896 + Missense_Mutation SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:48205896A>G uc003csh.1 - 12 1587 c.1223T>C c.(1222-1224)gTt>gCt p.V408A CDC25A_uc003csi.1_Missense_Mutation_p.V368A|CDC25A_uc021wxk.1_Missense_Mutation_p.V367A NM_001789 NP_001780 P30304 MPIP1_HUMAN Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA. 408 Rhodanese. DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GAAGTCTTCAACCTCTTCTTC 0.458000 22 14 0 0 0.000219431 0 0 CSMD1 64478 broad.mit.edu 37 8 3165304 3165304 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:3165304C>T uc022aqr.1 - 24 4253 c.3863G>A c.(3862-3864)cGa>cAa p.R1288Q CSMD1_uc011kwj.2_Missense_Mutation_p.R681Q|CSMD1_uc003wqe.3_Missense_Mutation_p.R445Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1289 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGACAATATTCGTCCTGATGT 0.478000 45 30 0 0 0.00127121 0 0 PRR23A 729627 broad.mit.edu 37 3 138724486 138724486 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:138724486C>T uc011bms.2 - 0 625 c.625G>A c.(625-627)Gga>Aga p.G209R NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN Homo sapiens proline rich 23A (PRR23A), mRNA. 209 Pro-rich. endometrium(3)|kidney(1)|lung(7) 11 GGAGAGTGTCCCTCTGAACTG 0.652000 4 5 0 0 0.000602214 0 0 TPO 7173 broad.mit.edu 37 2 1426834 1426834 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:1426834C>T uc002qwr.3 + 2 198 c.112C>T c.(112-114)Cgt>Tgt p.R38C TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.R38C|TPO_uc002qww.3_Missense_Mutation_p.R38C|TPO_uc002qwx.3_Missense_Mutation_p.R38C|TPO_uc002qwu.3_Missense_Mutation_p.R38C|TPO_uc010yio.2_Missense_Mutation_p.R38C|TPO_uc010yip.2_Missense_Mutation_p.R38C NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 38 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGAGGAGTCTCGTGTCTCTAG 0.562000 26 10 0 0 0.000442599 0 0 CPB1 1360 broad.mit.edu 37 3 148577634 148577634 + Missense_Mutation SNP T G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:148577634T>G uc003ewl.3 + 10 1122 c.1099T>G c.(1099-1101)Tat>Gat p.Y367D NM_001871 NP_001862 P15086 CBPB1_HUMAN Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA. 367 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CGACTGGGCTTATGACCAAGG 0.453000 54 41 0 0 0.000437636 0 0 SI 6476 broad.mit.edu 37 3 164773008 164773008 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:164773008C>T uc003fei.3 - 12 1549 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 496 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATTGCACTTCTTGATGGAAA 0.348000 HNSCC(35;0.089) 23 8 0 0 0.000274275 0 0 SSPO 23145 broad.mit.edu 37 7 149510776 149510776 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:149510776C>T uc010lpk.3 + 70 10052 c.10052C>T c.(10051-10053)tCc>tTc p.S3351F NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 3354 TIL 5. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTACTGAGTTCCAACGGGGCC 0.667000 5 10 0 0 0.000673444 0 0 ADAM29 11086 broad.mit.edu 37 4 175897470 175897470 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:175897470C>T uc003iuc.3 + 4 1464 c.794C>T c.(793-795)tCt>tTt p.S265F ADAM29_uc003iud.3_Missense_Mutation_p.S265F|ADAM29_uc010irr.3_Missense_Mutation_p.S265F|ADAM29_uc011cki.2_Missense_Mutation_p.S265F|ADAM29_uc021xuo.1_Missense_Mutation_p.S265F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 265 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding 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) GTAAGGAAATCTGTGCACCTG 0.408000 35 21 0 0 0.000295444 0 0 CLDN16 10686 broad.mit.edu 37 3 190122569 190122569 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:190122569G>A uc003fsi.3 + 2 694 c.446G>A c.(445-447)cGa>cAa p.R149Q CLDN16_uc010hze.3_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN Homo sapiens claudin 16 (CLDN16), mRNA. 149 R -> L (in HOMG3). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTGGTAACTCGAGCGTTGATG 0.448000 62 35 0 0 0.00170553 0 0 FLT3 2322 broad.mit.edu 37 13 28622539 28622539 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:28622539C>T uc001urw.3 - 8 1160 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E360K NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 360 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGGTCAATTTCATAATCTTCA 0.323000 """Mis, O""" """AML, ALL""" 27 29 0 0 0.00106085 0 0 FMNL1 752 broad.mit.edu 37 17 43321209 43321209 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:43321209C>T uc002iin.3 + 17 2465 c.2265C>T c.(2263-2265)ttC>ttT p.F755F FMNL1_uc002iiq.3_Silent_p.F333F|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.F82F NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 755 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGATGCGCTTCCTGCCCACAG 0.602000 12 17 0 0 0.00121646 0 0 IFT172 26160 broad.mit.edu 37 2 27676565 27676565 + Missense_Mutation SNP G T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27676565G>T uc002rku.3 - 33 3804 c.3753C>A c.(3751-3753)gaC>gaA p.D1251E IFT172_uc010ezb.3_Non-coding_Transcript NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 1251 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TGGGCACATAGTCCTTGCAGA 0.577000 37 26 1.68575e-08 9.96972e-08 0.00127121 1 0 COL4A1 1282 broad.mit.edu 37 13 110822958 110822958 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:110822958G>A uc001vqw.4 - 41 3800 c.3678C>T c.(3676-3678)tcC>tcT p.S1226S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1226 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CATGGCCTGGGGATCCCGGTA 0.672000 16 8 0 0 0.000442599 0 0 PKP3 11187 broad.mit.edu 37 11 396916 396916 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:396916G>A uc021qbk.1 + 3 489 c.460G>A c.(460-462)Ggg>Agg p.G154R PKP3_uc001lpc.3_Missense_Mutation_p.G139R NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 139 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCCCACAACGGGGGCAGCGC 0.711000 1 12 0 0 0.00136819 0 0 PTPRJ 5795 broad.mit.edu 37 11 48177548 48177548 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:48177548C>T uc001ngp.4 + 20 3670 c.3315C>T c.(3313-3315)tcC>tcT p.S1105S NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 1105 Tyrosine-protein phosphatase. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCTACCACTCCAAGAAAGATT 0.393000 76 45 0 0 0.000781405 0 0 LTBP3 4054 broad.mit.edu 37 11 65320351 65320351 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:65320351G>A uc001oej.3 - 5 1435 c.1166C>T c.(1165-1167)cCc>cTc p.P389L LTBP3_uc010roi.2_Missense_Mutation_p.P272L|LTBP3_uc001oei.3_Missense_Mutation_p.P389L|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.P300L|U7_uc021qll.1_5'Flank NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA. 389 EGF-like 2; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 TGTACGGGAGGGGCCTAAACT 0.587000 16 10 0 0 0.00136819 0 0 TNKS2 80351 broad.mit.edu 37 10 93582121 93582121 + Splice_Site SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:93582121T>C uc001khp.3 + 7 1092 c.795_splice c.e7+2 p.K265_splice NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA. 265 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TTGGTCAAGGTTAGTGCTCTT 0.343000 70 53 0 0 0.000781405 0 0 OR2L8 391190 broad.mit.edu 37 1 248112261 248112261 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248112261C>T uc001idt.1 + 0 102 c.102C>T c.(100-102)ttC>ttT p.F34F OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTTTCATTTTCCTGATGGCTC 0.398000 52 81 0 0 0.000781405 0 0 BCL11A 53335 broad.mit.edu 37 2 60689430 60689430 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:60689430G>A uc002sae.1 - 3 845 c.617C>T c.(616-618)cCc>cTc p.P206L BCL11A_uc002sab.3_Missense_Mutation_p.P206L|BCL11A_uc002sac.3_Missense_Mutation_p.P206L|BCL11A_uc010ypi.2_Missense_Mutation_p.P54L|BCL11A_uc010ypj.2_Missense_Mutation_p.P172L|BCL11A_uc002sad.1_Missense_Mutation_p.P54L|BCL11A_uc002saf.1_Missense_Mutation_p.P172L NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 206 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGGGGTCAGGGGACTTCCGTG 0.488000 T IGH@ B-CLL 230 172 0 0 0.000781405 0 0 MST1P9 11223 broad.mit.edu 37 1 17084074 17084074 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:17084074C>T uc010ock.2 - 13 1847 c.1847G>A c.(1846-1848)gGa>gAa p.G616E CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.G216E Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CCGCACATGTCCTCGGTGCTT 0.597000 138 14 0 0 0.000422831 0 0 ZNF876P 642280 broad.mit.edu 37 4 248262 248262 + RNA SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:248262C>T uc010iba.3 + 1 c.1096C>T Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA. GGTCCTCACACCTTACTGAAC 0.368000 8 7 0 0 8.12818e-05 0 0 CWF19L2 143884 broad.mit.edu 37 11 107299736 107299736 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:107299736G>A uc010rvp.2 - 7 1252 c.1222C>T c.(1222-1224)Ccc>Tcc p.P408S CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA. 408 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTCTTGGTGGGTTTTCTAAAA 0.418000 11 30 0 0 0.000339439 0 0 OR12D3 81797 broad.mit.edu 37 6 29342984 29342984 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29342984C>T uc003nme.3 - 0 85 c.81G>A c.(79-81)ggG>ggA p.G27G NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TTAAGAAAATCCCAAAGAAGA 0.388000 15 25 0 0 0.00127121 0 0 VRK2 7444 broad.mit.edu 37 2 58359036 58359036 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:58359036C>T uc002rzo.2 + 11 1515 c.770C>T c.(769-771)cCt>cTt p.P257L VRK2_uc010fcb.2_Missense_Mutation_p.P257L|VRK2_uc002rzt.3_Missense_Mutation_p.P139L|VRK2_uc002rzs.3_Missense_Mutation_p.P257L|VRK2_uc002rzv.3_Missense_Mutation_p.P257L|VRK2_uc010fcd.3_Missense_Mutation_p.P234L|VRK2_uc002rzu.3_Missense_Mutation_p.P257L|VRK2_uc010fcc.3_Missense_Mutation_p.P139L|VRK2_uc002rzp.3_Missense_Mutation_p.P257L|VRK2_uc010ypg.2_Missense_Mutation_p.P257L|VRK2_uc010yph.1_Missense_Mutation_p.P139L NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA. 257 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 CTGAAGGACCCTGTGGCTGTG 0.478000 20 13 0 0 0.000151284 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112035 64112036 + Missense_Mutation DNP GG AA AA TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64112035_64112036GG>AA uc001nzy.3 + 13 2071_2072 c.2022_2023GG>AA c.(2020-2025)acggga>acAAga p.G675R CCDC88B_uc009ypo.2_Missense_Mutation_p.G672R|CCDC88B_uc001nzz.1_Missense_Mutation_p.G324R NM_032251 NP_115627 A6NC98 CC88B_HUMAN Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA. 675 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACCTGGCCACGGGACAAGCAGA 0.639000 5 12 0 0 6.4e-05 0 0 LILRP2 79166 broad.mit.edu 37 19 55221914 55221914 + RNA SNP C A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55221914C>A uc002qgs.1 + 0 c.2314C>A LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GACCCTCCCTCTCGGTGCAGC 0.642000 17 10 2.80697e-09 1.66374e-08 0.000978159 1 0 POLA2 23649 broad.mit.edu 37 11 65046372 65046372 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:65046372G>A uc001odj.3 + 5 965 c.633G>A c.(631-633)caG>caA p.Q211Q POLA2_uc009yqf.1_Silent_p.Q211Q|POLA2_uc010rod.1_Silent_p.Q3Q|POLA2_uc001odk.3_5'Flank NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 211 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CCATGTTTCAGAAGCTCCCAG 0.468000 55 39 0 0 0.00148497 0 0 DDX17 10521 broad.mit.edu 37 22 38884057 38884057 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38884057T>C uc003avy.4 - 11 1614 c.1511A>G c.(1510-1512)cAc>cGc p.H504R DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.H504R NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 425 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GCCAATACGGTGCACATAATC 0.478000 54 33 0 0 0.000409698 0 0 GPRC5B 51704 broad.mit.edu 37 16 19884103 19884103 + Missense_Mutation SNP A T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:19884103A>T uc010vav.2 - 1 374 c.143T>A c.(142-144)gTg>gAg p.V48E GPRC5B_uc021tef.1_Missense_Mutation_p.V14E|GPRC5B_uc002dgt.3_Missense_Mutation_p.V22E NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA. 22 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGAGGTGATCACGAAGAGCAG 0.582000 29 20 0 0 0.00121646 0 0 DCAF11 80344 broad.mit.edu 37 14 24587638 24587638 + Missense_Mutation SNP C T T rs151306695 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:24587638C>T uc001wlv.3 + 6 899 c.619C>T c.(619-621)Cgt>Tgt p.R207C DCAF11_uc001wlw.3_Missense_Mutation_p.R207C|DCAF11_uc001wlz.3_Missense_Mutation_p.R107C|DCAF11_uc001wly.3_Missense_Mutation_p.R163C|DCAF11_uc010tny.2_Missense_Mutation_p.R74C|DCAF11_uc001wmc.3_Missense_Mutation_p.R107C|DCAF11_uc001wmb.4_Missense_Mutation_p.R181C|DCAF11_uc001wma.4_Missense_Mutation_p.R207C NM_001163484 NP_079506 Q8TEB1 DCA11_HUMAN Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA. 207 R -> H (in dbSNP:rs3825584). CUL4 RING ubiquitin ligase complex protein binding TGGCCGTTTCCGTAAATTCAA 0.488000 69 69 0 0 0.000781405 0 0 RP1 6101 broad.mit.edu 37 8 55541975 55541975 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:55541975G>A uc003xsd.1 + 3 5681 c.5533G>A c.(5533-5535)Gaa>Aaa p.E1845K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1845 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTGTGCCAAGGAAAGAATAGC 0.403000 19 17 0 0 0.000566183 0 0 TAOK1 57551 broad.mit.edu 37 17 27809280 27809280 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:27809280C>T uc002hdz.2 + 7 823 c.629C>T c.(628-630)tCt>tTt p.S210F TAOK1_uc010wbe.2_Missense_Mutation_p.S210F|TAOK1_uc002heb.1_Missense_Mutation_p.S36F NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA. 210 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GATGTGTGGTCTCTTGGAATA 0.318000 81 48 0 0 0.000781405 0 0 EFHB 151651 broad.mit.edu 37 3 19924167 19924167 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:19924167G>A uc003cbl.4 - 11 2399 c.2203C>T c.(2203-2205)Cgt>Tgt p.R735C EFHB_uc003cbm.3_Missense_Mutation_p.R605C NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 735 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CTGATGCGACGAATTCGGGGA 0.418000 17 15 0 0 0.00074312 0 0 HYAL4 23553 broad.mit.edu 37 7 123508836 123508836 + Missense_Mutation SNP T C C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:123508836T>C uc003vlc.3 + 2 1147 c.509T>C c.(508-510)cTt>cCt p.L170P HYAL4_uc011knz.2_Missense_Mutation_p.L170P NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 170 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TCAAGAAAGCTTATTTCCGAT 0.403000 42 32 0 0 0.000409698 0 0 GRM3 2913 broad.mit.edu 37 7 86394850 86394850 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:86394850G>A uc003uid.3 + 1 1488 c.389G>A c.(388-390)gGa>gAa p.G130E GRM3_uc010lef.3_Missense_Mutation_p.G128E|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 130 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGTCCTGATGGATCCTATGCC 0.428000 6 6 0 0 0.00116845 0 0 TCR-alpha 0 broad.mit.edu 37 14 22434032 22434032 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:22434032G>A uc021rpm.1 + 1 123 c.85G>A c.(85-87)Gat>Aat p.D29N TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron SubName: Full=V-alpha; Flags: Fragment; GGTGGAGCAGGATCCTGGACC 0.478000 4 6 0 0 8.12818e-05 0 0 GJA1 2697 broad.mit.edu 37 6 121768668 121768668 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:121768668C>T uc003pyr.3 + 1 925 c.675C>T c.(673-675)atC>atT p.I225I GJA1_uc011ebo.1_Silent_p.I126I|GJA1_uc011ebp.1_Silent_p.I13I|GJA1_uc021zel.1_Silent_p.I225I NM_000165 NP_000156 P17302 CXA1_HUMAN Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. 225 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity p.I225I(2) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CCTTGAATATCATTGAACTCT 0.522000 28 54 0 0 0.000781405 0 0 SLC9C2 284525 broad.mit.edu 37 1 173493114 173493114 + Silent SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:173493114G>A uc001giz.2 - 20 3057 c.2634C>T c.(2632-2634)ttC>ttT p.F878F SLC9C2_uc009wwe.2_Silent_p.F436F NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 878 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTACCTTGAAGAAGTCAATGA 0.378000 55 60 0 0 0.000781405 0 0 C1orf173 127254 broad.mit.edu 37 1 75086533 75086533 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:75086533C>T uc001dgg.3 - 7 1104 c.885G>A c.(883-885)ggG>ggA p.G295G CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G89G NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 295 p.G295G(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCACATTTTTCCCCAAATAGA 0.363000 15 11 0 0 0.000673444 0 0 AHSP 51327 broad.mit.edu 37 16 31539891 31539891 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:31539891G>A uc002ecj.3 + 2 273 c.188G>A c.(187-189)cGa>cAa p.R63Q NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA. 63 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CCCCAAGAGCGAGACAAGGCT 0.547000 36 30 0 0 0.000409698 0 0 C6orf170 221322 broad.mit.edu 37 6 121560234 121560234 + Silent SNP A G G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:121560234A>G uc003pyo.1 - 19 2414 c.2346T>C c.(2344-2346)atT>atC p.I782I C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Silent_p.I301I NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 782 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) AGCTTCGGTCAATAGGATCCA 0.338000 19 33 0 0 0.000491102 0 0 NETO1 81832 broad.mit.edu 37 18 70451049 70451049 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:70451049C>T uc002lkw.3 - 6 1016 c.732G>A c.(730-732)gaG>gaA p.E244E NETO1_uc002lky.2_Silent_p.E244E NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 244 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTTTCAAATCCTCCACGGAAC 0.448000 31 39 0 0 0.00148497 0 0 FADS2 9415 broad.mit.edu 37 11 61631244 61631244 + Silent SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:61631244C>T uc001nsl.1 + 9 1293 c.1143C>T c.(1141-1143)ttC>ttT p.F381F FADS2_uc001nsj.2_Silent_p.F359F|FADS2_uc010rlo.1_Silent_p.F350F|FADS2_uc001nsk.3_Silent_p.F381F NM_004265 NP_004256 O95864 FADS2_HUMAN Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. 381 NF -> SL (in Ref. 4; BAB55167). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) ACCTTAACTTCCAGATTGAGC 0.602000 19 10 0 0 0.00136819 0 0 GUCY2C 2984 broad.mit.edu 37 12 14836030 14836030 + Missense_Mutation SNP G A A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:14836030G>A uc001rcd.3 - 3 694 c.557C>T c.(556-558)tCc>tTc p.S186F GUCY2C_uc009zhz.2_Missense_Mutation_p.S186F NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 186 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGTGCTCCAGGAATAAGTTTT 0.393000 3 12 0 0 0.000219431 0 0 ADCY8 114 broad.mit.edu 37 8 131916068 131916068 + Missense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:131916068C>T uc003ytd.4 - 6 2117 c.1861G>A c.(1861-1863)Gga>Aga p.G621R ADCY8_uc010mds.3_Missense_Mutation_p.G621R NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 621 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTCCAGGATCCTTCAGTGAAT 0.517000 HNSCC(32;0.087) 23 18 0 0 0.00074312 0 0 NLRC5 84166 broad.mit.edu 37 16 57075940 57075940 + Nonsense_Mutation SNP C T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57075940C>T uc021tiu.1 + 17 3203 c.3076C>T c.(3076-3078)Cag>Tag p.Q1026* NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Nonsense_Mutation_p.Q831*|NLRC5_uc021tiw.1_Nonsense_Mutation_p.Q831*|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 1026 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCGGCTGGCTCAGCTGCTCCC 0.637000 31 15 0 0 0.00152264 0 0 DNAH7 56171 broad.mit.edu 37 2 196786910 196786910 + Frame_Shift_Del DEL T - - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:196786910delT uc002utj.4 - 23 3938 c.3837delA c.(3835-3837)ttafs p.L1279fs NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1279 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTTTGTTTCTAAATGATTTT 0.294 --- 18 --- --- 9 --- SNRK 54861 broad.mit.edu 37 3 43389865 43389875 + Frame_Shift_Del DEL AGTTTTTCTCT - - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:43389865_43389875delAGTTTTTCTCT uc003cms.4 + 6 2446_2456 c.2114_2124delAGTTTTTCTCT c.(2113-2124)aagtttttctctfs p.K705fs SNRK_uc003cmt.4_Frame_Shift_Del_p.K705fs|SNRK_uc010hik.3_Frame_Shift_Del_p.K705fs|SNRK_uc011azr.2_Frame_Shift_Del_p.K499fs NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA. 705 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) GGCGGCATAAAGTTTTTCTCTGACCACATGG 0.469 --- 52 --- --- 27 --- DNAH12 201625 broad.mit.edu 37 3 57509312 57509313 + Frame_Shift_Ins INS - T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:57509312_57509313insT uc003dit.2 - 3 457_458 c.276_277insA c.(274-279)aaaggafs p.K92fs DNAH12_uc003diu.2_Frame_Shift_Ins_p.K92fs NM_178504 NP_848599 Q6ZR08 DYH12_HUMAN Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA. 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(3) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 GAACTCACTCCTTTTTTTTTCA 0.252 --- 62 --- --- 7 --- AFP 174 broad.mit.edu 37 4 74313277 74313285 + In_Frame_Del DEL AATTCATGC - - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:74313277_74313285delAATTCATGC uc003hgz.1 + 7 989_997 c.942_950delAATTCATGC c.(940-951)ataattcatgca>ata p.IHA315del AFP_uc011cbg.1_In_Frame_Del_p.IHA89del NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 315 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) GTCAATGTATAATTCATGCAGAAAATGAT 0.349 Alpha-Fetoprotein, Hereditary Persistence of --- 32 --- --- 9 --- KDM3B 51780 broad.mit.edu 37 5 137728990 137728991 + Frame_Shift_Del DEL GC - - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:137728990_137728991delGC uc003lcy.1 + 8 2960_2961 c.2760_2761delGC c.(2758-2763)gagcggfs p.E920fs KDM3B_uc010jew.1_Frame_Shift_Del_p.E576fs|KDM3B_uc011cys.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 920 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GCCGCCTGGAGCGGTACCGGAA 0.510 --- 21 --- --- 10 --- LRRC4C 57689 broad.mit.edu 37 11 40137645 40137646 + Frame_Shift_Ins INS - T T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:40137645_40137646insT uc021qgf.1 - 0 197_198 c.197_198insA c.(196-198)aacfs p.N66fs LRRC4C_uc001mxc.1_Frame_Shift_Ins_p.N62fs|LRRC4C_uc001mxd.1_Frame_Shift_Ins_p.N62fs|LRRC4C_uc001mxa.1_Frame_Shift_Ins_p.N66fs|LRRC4C_uc001mxb.1_Frame_Shift_Ins_p.N62fs NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 66 LRRNT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CCTCACGCAGGTTTTTCCGAAC 0.525 --- 5 --- --- 30 --- OVCH1 341350 broad.mit.edu 37 12 29631833 29631846 + Splice_Site DEL ATGTCTAAACTTGT - - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:29631833_29631846delATGTCTAAACTTGT uc001rix.1 - 9 996 c.996_splice c.e9-1 p.I332_splice NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN Homo sapiens ovochymase 1 (OVCH1), mRNA. 332 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGCTTTTCCATGTCTAAACTTGTAAATTTTATC 0.318 --- 6 --- --- 3 --- LOC100506888 100506888 broad.mit.edu 37 18 44543228 44543229 + Frame_Shift_Del DEL TG - - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:44543228_44543229delTG uc021ujk.1 - 0 1379_1380 c.1143_1144delCA c.(1141-1146)gacaatfs p.D381fs KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_001242907 NP_001229836 A6NLF2 EA3L2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C-like (LOC100506888), mRNA. 381 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding AGTGCGGCATTGTCTTTCTCTG 0.584 --- 373 --- --- 14 --- MAP1S 55201 broad.mit.edu 37 19 17845123 17845125 + In_Frame_Del DEL GTG - - rs71791998 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:17845123_17845125delGTG uc002nhe.1 + 6 3075_3077 c.3066_3068delGTG c.(3064-3069)acgtgg>acg p.W1023del MAP1S_uc010xpv.1_In_Frame_Del_p.W997del NM_018174 NP_060644 Q66K74 MAP1S_HUMAN Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA. 1023 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse DNA binding|actin filament binding|beta-tubulin binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CCATGCATACGTGGTACGCAGAG 0.660 --- 16 --- --- 7 ---