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 CCDC63 160762 broad.mit.edu 37 12 111336859 111336859 + Silent SNP C T T rs115748204 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr12:111336859C>T uc001trv.1 + 9 1467 c.1272C>T c.(1270-1272)gaC>gaT p.D424D CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 424 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TAAACTGTGACGCCACCAAGA 0.498000 15 11 0 0 1 0 0 LOC440518 440518 broad.mit.edu 37 19 22785310 22785310 + RNA SNP A G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:22785310A>G uc002nqu.4 + 6 c.1486A>G Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA. GCCATGGAGAAACTGCAGGTG 0.627000 5 10 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471145 92471145 + Missense_Mutation SNP G C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92471145G>C uc001xzy.3 - 10 3549 c.3175C>G c.(3175-3177)Cag>Gag p.Q1059E TRIP11_uc010auf.2_Missense_Mutation_p.Q795E NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 1059 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TGAATAATCTGAGTTAGTTTA 0.338000 T PDGFRB AML 39 8 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8526635 8526635 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:8526635G>T uc003zkk.3 - 16 1303 c.560C>A c.(559-561)cCa>cAa p.P187Q PTPRD_uc003zkp.3_Missense_Mutation_p.P187Q|PTPRD_uc003zkq.3_Missense_Mutation_p.P187Q|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Missense_Mutation_p.P184Q NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 187 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACCTCTTATTGGTGTACCACC 0.398000 TSP Lung(15;0.13) 37 8 1.12685e-05 1.35999e-05 1 1 0 GLB1L2 89944 broad.mit.edu 37 11 134244581 134244581 + Missense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:134244581C>A uc001qhp.3 + 17 1981 c.1793C>A c.(1792-1794)cCa>cAa p.P598Q GLB1L2_uc009zdg.1_Non-coding_Transcript NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 598 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CTTTACCTCCCAGGTCCCTGG 0.597000 67 7 0.0293803 0.0305439 1 1 0 SLC9C2 284525 broad.mit.edu 37 1 173551109 173551109 + Nonsense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:173551109C>A uc001giz.2 - 6 1102 c.679G>T c.(679-681)Gga>Tga p.G227* SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 227 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTATGCTTCCCAAAATGTCA 0.299000 12 5 0.000602214 0.000679919 1 1 0 BAG6 7917 broad.mit.edu 37 6 31606981 31606981 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:31606981C>T uc003nvg.4 - 24 3640 c.3326G>A c.(3325-3327)cGa>cAa p.R1109Q BAG6_uc003nvf.4_Missense_Mutation_p.R1103Q|BAG6_uc003nvi.4_Missense_Mutation_p.R1103Q|BAG6_uc003nvh.4_Missense_Mutation_p.R1103Q|BAG6_uc011dnw.2_Missense_Mutation_p.R1054Q|BAG6_uc011dnx.2_Missense_Mutation_p.R880Q NM_004639 NP_004630 P46379 BAG6_HUMAN Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA. 1109 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 TTCCTGCAGTCGTTTTTGTAT 0.532000 12 10 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175308 55175308 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:55175308G>T uc002qgp.3 + 2 529 c.167G>T c.(166-168)cGg>cTg p.R56L LILRB4_uc002qgo.1_Missense_Mutation_p.R97L|LILRB4_uc002qgq.3_Missense_Mutation_p.R56L|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R97L|LILRB4_uc010eru.3_Missense_Mutation_p.R85L 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. 56 Ig-like C2-type 1. 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) CTGGAGGCTCGGGAGTACCGT 0.607000 151 25 9.86323e-18 1.39951e-17 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40368357 40368357 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:40368357C>T uc002omp.4 - 27 12999 c.12991G>A c.(12991-12993)Gcc>Acc p.A4331T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4331 extracellular region protein binding p.A4331T(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCTGGCAGGCGGCCACGTAG 0.647000 149 17 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34511922 34511922 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:34511922C>T uc003ojq.2 - 1 745 c.311G>A c.(310-312)aGc>aAc p.S104N SPDEF_uc011dsq.2_Missense_Mutation_p.S104N NM_012391 NP_036523 O95238 SPDEF_HUMAN Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA. 104 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CAAGTCCAGGCTGCCCGCTGG 0.682000 22 20 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359169 66359169 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:66359169C>T uc001oiq.4 - 0 1386 c.1318G>A c.(1318-1320)Gtg>Atg p.V440M CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 440 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCCTGGACCACGACCTCATTT 0.552000 57 34 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312564 111312564 + Missense_Mutation SNP C A A rs144259563 byFrequency TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:111312564C>A uc003dxy.3 - 1 1386 c.485G>T c.(484-486)aGg>aTg p.R162M CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R162M NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 162 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 CCTTTCCCTCCTAAGCACCTC 0.607000 46 15 0.00498961 0.00534601 1 1 0 FAM161A 84140 broad.mit.edu 37 2 62054287 62054287 + Missense_Mutation SNP T C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:62054287T>C uc002sbm.4 - 5 2060 c.1958A>G c.(1957-1959)gAg>gGg p.E653G FAM161A_uc002sbn.4_Missense_Mutation_p.E407G|FAM161A_uc010ypo.2_Missense_Mutation_p.E597G|FAM161A_uc010fcm.1_Non-coding_Transcript NM_001201543 NP_001188472 Q3B820 F161A_HUMAN Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA. 597 Glu-rich. response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTTGAAGTACTCAAGTACTTT 0.348000 36 15 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211484 78211484 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr15:78211484C>T uc010bky.2 - 10 1047 c.283G>A c.(283-285)Gag>Aag p.E95K Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. TCCTCCTGCTCCTGGAGTCTC 0.587000 44 56 0 0 1 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 118633 118633 + Missense_Mutation SNP G C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chrGL000209.1:118633G>C uc010yie.2 + 2 121 c.110G>C c.(109-111)cGc>cCc p.R37P KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.R34P|KIR2DL2_uc002qum.3_Missense_Mutation_p.R37P NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 37 R -> P (in dbSNP:rs613240). regulation of immune response integral to membrane|plasma membrane receptor activity CACCCAGGTCGCCTGGTGAAA 0.488000 166 5 0 0 1 0 0 PAF1 54623 broad.mit.edu 37 19 39877178 39877178 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:39877178G>A uc002old.3 - 12 1302 c.1127C>T c.(1126-1128)cCg>cTg p.P376L PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.P366L NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA. 376 Glu-rich. histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ttcctcctccGGTTCGTGGTT 0.572000 21 10 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61607554 61607554 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:61607554C>T uc002jay.3 + 2 490 c.410C>T c.(409-411)gCc>gTc p.A137V KCNH6_uc002jax.1_Missense_Mutation_p.A137V|KCNH6_uc010wpl.2_Missense_Mutation_p.A14V|KCNH6_uc010wpm.2_Missense_Mutation_p.A137V|KCNH6_uc002jaz.1_Missense_Mutation_p.A137V NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 137 PAC. regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CAGCTCCTGGCCAAGTGCAGC 0.627000 75 9 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38471101 38471101 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr22:38471101G>T uc003auq.3 + 12 1600 c.1210G>T c.(1210-1212)Ggg>Tgg p.G404W PICK1_uc003aur.3_Missense_Mutation_p.G404W|PICK1_uc003aus.3_Missense_Mutation_p.G404W|PICK1_uc003aut.3_Missense_Mutation_p.G404W NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA. 404 DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) AGGGGCTGCTGGGCCCTTGGA 0.682000 28 7 0.000274275 0.000313031 1 1 0 NMBR 4829 broad.mit.edu 37 6 142396893 142396893 + Silent SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:142396893G>T uc003qiu.3 - 2 1206 c.1065C>A c.(1063-1065)ctC>ctA p.L355L NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 355 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CTGAAGAGCTGAGTAGGTAGC 0.463000 74 4 1.23904e-05 1.46179e-05 1 1 0 TMEM190 147744 broad.mit.edu 37 19 55889022 55889022 + Silent SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:55889022C>A uc002qkt.1 + 2 174 c.156C>A c.(154-156)ccC>ccA p.P52P NM_139172 NP_631911 Q8WZ59 TM190_HUMAN Homo sapiens transmembrane protein 190 (TMEM190), mRNA. 52 P-type. integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TCGATAGCCCCAACCTCTGCC 0.672000 153 30 7.26314e-15 1.01684e-14 1 1 0 AP1S2 8905 broad.mit.edu 37 17 58180043 58180043 + Missense_Mutation SNP C G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:58180043C>G uc010wot.1 - 0 238 c.122G>C c.(121-123)cGc>cCc p.R41P NM_003916 NP_003907 P56377 AP1S2_HUMAN Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA. 0 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane protein transporter activity large_intestine(1) 1 Hepatocellular(33;0.183) gggccgcgggcgcggcggAGC 0.637000 0 12 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190883067 190883067 + Silent SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr4:190883067G>A uc003izs.3 + 7 911 c.720G>A c.(718-720)ttG>ttA p.L240L NM_004477 NP_004468 Q14331 FRG1_HUMAN Homo sapiens FSHD region gene 1 (FRG1), mRNA. 240 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ATGGATTTTTGCATGAGACGC 0.323000 89 4 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109716420 109716420 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:109716420G>A uc021orb.1 + 6 1134 c.913G>A c.(913-915)Gaa>Aaa p.E305K KIAA1324_uc009wex.2_Intron|KIAA1324_uc010ovg.2_Missense_Mutation_p.E203K|KIAA1324_uc009wey.3_Intron NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 305 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) AAATAAAGGAGAAACTTCTTG 0.478000 36 7 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102963969 102963969 + Missense_Mutation SNP G C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:102963969G>C uc001ylw.2 + 18 4220 c.3994G>C c.(3994-3996)Gac>Cac p.D1332H TECPR2_uc010txx.2_Missense_Mutation_p.D495H NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 1332 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 TCCAAACGGAGACCTCGCCCG 0.672000 18 6 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11233960 11233960 + Silent SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:11233960C>A uc002mqk.4 + 14 2438 c.2251C>A c.(2251-2253)Cgg>Agg p.R751R LDLR_uc010xlk.2_Silent_p.R751R|LDLR_uc010xll.2_Silent_p.R710R|LDLR_uc021upc.1_Silent_p.R630R|LDLR_uc010xln.2_Silent_p.R573R|LDLR_uc010xlo.2_Silent_p.R583R|LDLR_uc010xlm.2_Silent_p.R604R|LDLR_uc021upd.1_Silent_p.R488R NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 751 Clustered O-linked oligosaccharides. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGACACCTCCCGGCTGCCTGG 0.622000 61 10 1.76689e-08 2.26249e-08 1 1 0 BCKDHB 594 broad.mit.edu 37 6 80910684 80910684 + Missense_Mutation SNP C G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:80910684C>G uc003pjd.2 + 6 843 c.776C>G c.(775-777)cCa>cGa p.P259R BCKDHB_uc003pje.2_Missense_Mutation_p.P259R NM_000056 NP_898871 P21953 ODBB_HUMAN Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 259 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TACAACATCCCACTGTCCCAG 0.423000 50 6 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410193 159410193 + Silent SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:159410193G>T uc010piv.2 + 0 682 c.645G>T c.(643-645)ctG>ctT p.L215L BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 215 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCAGTGTGCTGGTGCTTGTTG 0.453000 57 9 1.12685e-05 1.35999e-05 1 1 0 FCRLA 84824 broad.mit.edu 37 1 161681733 161681733 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:161681733C>T uc001gbe.3 + 4 820 c.578C>T c.(577-579)cCa>cTa p.P193L FCRLA_uc001gbg.3_Missense_Mutation_p.P47L|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.P187L|FCRLA_uc001gbf.3_Missense_Mutation_p.P98L|FCRLA_uc009wuo.3_Missense_Mutation_p.P53L NM_001184866 NP_001171795 Q7L513 FCRLA_HUMAN Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA. 170 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GAACTGTTTCCAGCGCCAATT 0.517000 100 116 0 0 1 0 0 EP400NL 347918 broad.mit.edu 37 12 132589596 132589596 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr12:132589596C>T uc001ujv.3 + 0 1055 c.1031C>T c.(1030-1032)cCc>cTc p.P344L EP400NL_uc001ujr.2_Missense_Mutation_p.P212L|EP400NL_uc001ujs.4_Missense_Mutation_p.P275L|EP400NL_uc009zyq.3_Missense_Mutation_p.P212L|EP400NL_uc001ujt.3_Missense_Mutation_p.P212L|EP400NL_uc001ujw.1_Missense_Mutation_p.P43L Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA. endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 GAGGAGATTCCCCCAGCCTCT 0.557000 2 2 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967967 4967967 + Missense_Mutation SNP A G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:4967967A>G uc010qys.2 - 0 364 c.364T>C c.(364-366)Ttt>Ctt p.F122L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S121L(1) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATCTATCAAATGACATGATC 0.438000 120 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453987 140453987 + Splice_Site SNP T G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:140453987T>G uc003vwc.4 - 14 1802 c.1741_splice c.e14+1 p.N581_splice NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). 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 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) GGAAGGATACTATTACTCTTG 0.373000 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 30 31 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8152717 8152717 + Missense_Mutation SNP A C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:8152717A>C uc002mjf.3 - 51 6628 c.6611T>G c.(6610-6612)aTg>aGg p.M2204R FBN3_uc002mje.3_Missense_Mutation_p.M43R NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2204 EGF-like 35; 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 acctcgaCACATGGCCCCATC 0.557000 11 29 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160977073 160977073 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:160977073C>T uc003qtl.3 - 30 5077 c.4957G>A c.(4957-4959)Gaa>Aaa p.E1653K NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4161 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGGTAGTTTTCTGGGGTCCTC 0.458000 38 18 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18110965 18110965 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr11:18110965G>T uc001mnq.3 - 6 732 c.682C>A c.(682-684)Cag>Aag p.Q228K SAAL1_uc001mnr.3_Missense_Mutation_p.Q228K NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA. 228 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 TCCAGAGGCTGAGCAGCCCCA 0.512000 39 19 0.000958276 0.00107041 1 1 0 MAGI2 9863 broad.mit.edu 37 7 77885617 77885617 + Silent SNP G T T rs139352828 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:77885617G>T uc003ugx.3 - 9 1944 c.1690C>A c.(1690-1692)Cgg>Agg p.R564R MAGI2_uc003ugy.3_Silent_p.R564R|MAGI2_uc010ldx.1_Silent_p.R173R|MAGI2_uc010ldy.1_Silent_p.R173R|MAGI2_uc011kgr.1_Silent_p.R396R|MAGI2_uc011kgs.1_Silent_p.R401R NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 564 cell junction|synapse|synaptosome phosphatase binding p.R564Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGAGGCGGCCGATCTGTTATA 0.502000 35 6 0.0293803 0.0305439 1 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259555 24259555 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:24259555G>T uc003xdz.2 + 11 1490 c.1270G>T c.(1270-1272)Ggg>Tgg p.G424W ADAMDEC1_uc010lub.2_Missense_Mutation_p.G345W|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G345W NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 424 Disintegrin. 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) ACCAGTGTGTGGGAACCACCT 0.393000 26 3 0.184627 0.188212 1 1 0 XKR6 286046 broad.mit.edu 37 8 10755649 10755649 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:10755649G>T uc003wtk.1 - 2 1766 c.1739C>A c.(1738-1740)cCa>cAa p.P580Q NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 580 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GGGCCCTTCTGGGAGGTAAGG 0.522000 21 3 0.004672 0.00505732 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45815342 45815342 + Missense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr21:45815342C>A uc010gpt.1 + 11 1940 c.1840C>A c.(1840-1842)Cat>Aat p.H614N TRPM2_uc002zet.1_Missense_Mutation_p.H614N|TRPM2_uc002zeu.1_Missense_Mutation_p.H614N|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.H614N|TRPM2_uc002zex.1_Missense_Mutation_p.H400N|TRPM2_uc002zey.1_Missense_Mutation_p.H127N NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 614 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTCCTCAGGCCATGTGACCTT 0.597000 107 22 3.83957e-06 4.79946e-06 1 1 0 MAPRE3 22924 broad.mit.edu 37 2 27247084 27247084 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:27247084C>T uc002rhw.3 + 3 541 c.388C>T c.(388-390)Cgg>Tgg p.R130W NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA. 130 cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGCTGGCGCGGCAGGGCCA 0.473000 26 22 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91226241 91226241 + Missense_Mutation SNP C G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:91226241C>G uc003pnz.1 - 16 2105 c.1800G>C c.(1798-1800)caG>caC p.Q600H MAP3K7_uc003pny.1_Missense_Mutation_p.Q137H|MAP3K7_uc003pob.1_Missense_Mutation_p.Q573H|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 600 I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTTGTCGTTTCTGCTGCTGAC 0.353000 46 22 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110817227 110817227 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr13:110817227C>T uc001vqw.4 - 45 4254 c.4132G>A c.(4132-4134)Ggc>Agc p.G1378S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1378 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) CCTTTCGGGCCTGGCAGTCCC 0.642000 10 4 0 0 1 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806804 97806804 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:97806804G>A uc011bgs.2 + 0 788 c.788G>A c.(787-789)cGt>cAt p.R263H NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R263H(2) endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATGTATGTGCGTCCTGCATCT 0.428000 1 15 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15584429 15584429 + Silent SNP T A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chrX:15584429T>A uc004cxa.1 - 15 2229 c.2061A>T c.(2059-2061)gcA>gcT p.A687A ACE2_uc004cxb.2_Silent_p.A687A NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA. 687 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CATTTTTAGGTGCAGTGACAA 0.398000 6 57 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C T T rs150656642 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:21221024C>T uc010bwn.1 - 3 457 c.375G>A c.(373-375)ccG>ccA p.P125P ZP2_uc002dii.2_Silent_p.P86P|ZP2_uc010bwo.3_Silent_p.P125P NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 86 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) AAGTGCAGTTCGGCATGTCGA 0.498000 32 25 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22922632 22922632 + Silent SNP G T T rs144628022 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:22922632G>T uc001bfx.1 + 8 1856 c.1731G>T c.(1729-1731)tcG>tcT p.S577S NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 577 integral to plasma membrane ATP binding|ephrin receptor activity 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) TCCAGGACTCGGACGAGGAGA 0.667000 22 12 5.50884e-06 6.80503e-06 1 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823055 38823055 + Silent SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr22:38823055C>A uc003avs.1 - 1 1180 c.1083G>T c.(1081-1083)ctG>ctT p.L361L KCNJ4_uc003avt.1_Silent_p.L361L|KCNJ4_uc021wpp.1_Silent_p.L361L NM_004981 NP_690607 P48050 IRK4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA. 361 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex PDZ domain binding|inward rectifier potassium channel activity endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTGGGGCGGGCAGCACGGTGA 0.642000 62 6 0.0293803 0.0305439 1 1 0 EIF2C2 27161 broad.mit.edu 37 8 141595255 141595255 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:141595255C>T uc003yvn.3 - 1 219 c.178G>A c.(178-180)Gat>Aat p.D60N EIF2C2_uc010meo.3_Missense_Mutation_p.D60N|EIF2C2_uc010men.3_Intron NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 60 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GGCTTGATATCCAATTCATAA 0.448000 64 7 0 0 1 0 0 AK302306 0 broad.mit.edu 37 15 28599954 28599954 + Silent SNP A G G rs144345425 by1000genomes TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr15:28599954A>G uc010uaf.1 - 3 306 c.288T>C c.(286-288)ctT>ctC p.L96L DQ595648_uc021sgj.1_5'Flank SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA; GGCTGTAGTAAAGTGCCATCT 0.478000 50 3 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156756826 156756826 + Missense_Mutation SNP G C C rs142005569 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:156756826G>C uc001fqa.3 + 2 1233 c.943G>C c.(943-945)Gat>Cat p.D315H NM_005973 NP_005964 Q92733 PRCC_HUMAN Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA. 315 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTTCCAGGACGATGCAGCCAA 0.577000 T TFE3 papillary renal 121 11 0 0 1 0 0 TMEM38B 55151 broad.mit.edu 37 9 108467983 108467983 + Missense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:108467983C>A uc004bcu.1 + 1 335 c.218C>A c.(217-219)cCa>cAa p.P73Q TMEM38B_uc010mtn.1_Missense_Mutation_p.P73Q NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN Homo sapiens transmembrane protein 38B (TMEM38B), mRNA. 73 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 GCAGAGCCTCCATTGAAGTTT 0.418000 49 14 1.45105e-14 2.00474e-14 1 1 0 ZAN 7455 broad.mit.edu 37 7 100385659 100385659 + Silent SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:100385659C>T uc003uwj.3 + 38 7290 c.7125C>T c.(7123-7125)cgC>cgT p.R2375R ZAN_uc003uwk.3_Silent_p.R2375R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.R426R NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 2376 VWFD 4. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.R2375H(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGGAAGGACGCAACAAGATGG 0.567000 44 8 0 0 1 0 0 CROCCP3 114819 broad.mit.edu 37 1 16809824 16809824 + RNA SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:16809824C>T uc001ays.2 - 6 c.897G>A CROCCP3_uc001ayt.2_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA. CTGCACCTCGCGCTGGGCGTC 0.662000 9 3 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933207 44933207 + Silent SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:44933207C>T uc002oze.1 - 5 2183 c.1749G>A c.(1747-1749)cgG>cgA p.R583R ZNF229_uc010ejk.1_Silent_p.R237R|ZNF229_uc010ejl.1_Silent_p.R577R NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGTCTGAATTCCGCCGGAAGC 0.572000 19 31 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122432362 122432362 + Silent SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:122432362G>A uc003efq.4 + 9 3770 c.3711G>A c.(3709-3711)acG>acA p.T1237T PARP14_uc021xdc.1_Silent_p.T1101T|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.T954T|PARP14_uc003efs.1_Silent_p.T954T NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 1237 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GAGATATCACGAAAGAAGAGG 0.383000 2 21 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53787666 53787666 + Missense_Mutation SNP T C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:53787666T>C uc003dgv.4 + 28 3906 c.3743T>C c.(3742-3744)tTc>tCc p.F1248S CACNA1D_uc003dgu.4_Missense_Mutation_p.F1268S|CACNA1D_uc003dgy.4_Missense_Mutation_p.F1248S|CACNA1D_uc003dgw.4_Missense_Mutation_p.F915S|CACNA1D_uc003dgx.1_Missense_Mutation_p.F396S NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1248 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACCGGGGTGTTCACCGTCGAG 0.478000 4 20 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106687 55106687 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:55106687G>A uc002qgh.1 + 4 663 c.481G>A c.(481-483)Gaa>Aaa p.E161K LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.E161K NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 161 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TAAGGAAGGAGAAGATGAACA 0.592000 67 94 0 0 1 0 0 CYP2S1 29785 broad.mit.edu 37 19 41700534 41700534 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:41700534G>T uc002opw.3 + 1 318 c.263G>T c.(262-264)cGg>cTg p.R88L CYP2S1_uc010xvx.2_5'UTR NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA. 88 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GAGGCTGTGCGGGAGGCCCTG 0.632000 27 15 1.49906e-05 1.7489e-05 1 1 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:129116038C>T uc003eme.1 - 0 c.760G>A RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA. lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 57 5 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91226264 91226264 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:91226264C>T uc003pnz.1 - 16 2082 c.1777G>A c.(1777-1779)Gag>Aag p.E593K MAP3K7_uc003pny.1_Missense_Mutation_p.E130K|MAP3K7_uc003pob.1_Missense_Mutation_p.E566K|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 593 I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding p.E566K(1)|p.E593K(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGATGACCTCTAGTTGTTTT 0.378000 50 21 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19612766 19612766 + Silent SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:19612766G>A uc001bbv.1 - 1 392 c.315C>T c.(313-315)ccC>ccT p.P105P NM_012067 NP_036199 O95154 ARK73_HUMAN Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA. 105 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGTCCACTCGGGGACACTGCA 0.592000 45 28 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286355 152286355 + Missense_Mutation SNP G C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:152286355G>C uc001ezu.1 - 2 1043 c.1007C>G c.(1006-1008)cCc>cGc p.P336R AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 336 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) ATGGGACCTGGGGTGTCTGGA 0.562000 Ichthyosis 145 28 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335488 20335488 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:20335488G>T uc002dgv.3 - 2 268 c.185C>A c.(184-186)cCc>cAc p.P62H GP2_uc002dgw.3_Missense_Mutation_p.P62H|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 62 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATTCTGACAGGGGTCAAAACA 0.552000 34 11 1.61879e-10 2.15156e-10 1 1 0 RYR1 6261 broad.mit.edu 37 19 38993211 38993211 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:38993211C>T uc002oit.3 + 47 7809 c.7679C>T c.(7678-7680)cCg>cTg p.P2560L RYR1_uc002oiu.3_Missense_Mutation_p.P2560L|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2560 6 X approximate repeats. 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 p.P2560L(2) 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) GCCGTGCTGCCGCTCATCACC 0.647000 11 18 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91226396 91226396 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:91226396C>T uc003pnz.1 - 16 1950 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K MAP3K7_uc003pny.1_Missense_Mutation_p.E86K|MAP3K7_uc003pob.1_Missense_Mutation_p.E522K|MAP3K7_uc003poa.1_Missense_Mutation_p.R510K|MAP3K7_uc003poc.1_Missense_Mutation_p.R483K NM_145331 NP_663304 O43318 M3K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA. 549 I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GCAACTAGTTCTTGCCTACAA 0.353000 19 12 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16640497 16640497 + Missense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:16640497C>A uc003sti.3 - 9 1459 c.1215G>T c.(1213-1215)aaG>aaT p.K405N ANKMY2_uc010ktz.3_Non-coding_Transcript NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA. 405 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GATTGGAATCCTTTTGAGAGA 0.423000 39 3 1 1 1 1 0 TEKT5 146279 broad.mit.edu 37 16 10770001 10770001 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:10770001C>T uc002czz.1 - 4 973 c.901G>A c.(901-903)Gac>Aac p.D301N NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 301 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TTGATGTTGTCGTTACTGAAC 0.552000 27 6 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100062529 100062529 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:100062529C>T uc003pqg.1 + 3 2279 c.2018C>T c.(2017-2019)cCc>cTc p.P673L NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN Homo sapiens PR domain containing 13 (PRDM13), mRNA. 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CCCGGCTATCCCCCGGAGCCT 0.716000 63 7 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118268 118268 + RNA SNP G C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chrGL000205.1:118268G>C uc002kgk.4 + 0 c.1646G>C Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AAACCAGCAAGAAATTCATCC 0.512000 16 11 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358370 10358370 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:10358370C>T uc002gmn.3 - 20 2434 c.2323G>A c.(2323-2325)Gga>Aga p.G775R AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 775 Actin-binding (By similarity).|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 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 TCTAGAGTTCCCAGCAGGCCA 0.403000 23 234 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043609 25043609 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:25043609C>T uc001wpq.3 - 3 473 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_001911 NP_001902 P08311 CATG_HUMAN Homo sapiens cathepsin G (CTSG), mRNA. 146 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CTGCCCCAGCCGGCCACAGTG 0.612000 118 25 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92472033 92472033 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92472033G>A uc001xzy.3 - 10 2661 c.2287C>T c.(2287-2289)Cat>Tat p.H763Y TRIP11_uc010auf.2_Missense_Mutation_p.H499Y NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 763 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTAATTAAATGCTCATGTTCC 0.343000 T PDGFRB AML 119 28 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45742035 45742035 + Missense_Mutation SNP A G G TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr21:45742035A>G uc002zek.3 + 16 1900 c.1499A>G c.(1498-1500)cAc>cGc p.H500R PFKL_uc002zel.3_Missense_Mutation_p.H453R|PFKL_uc002zem.3_Missense_Mutation_p.H40R|PFKL_uc002zen.3_Missense_Mutation_p.H40R P17858 K6PL_HUMAN Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA. 453 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GTAGGCTGGCACGACGTGGCC 0.701000 24 34 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160977080 160977080 + Silent SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:160977080C>T uc003qtl.3 - 30 5070 c.4950G>A c.(4948-4950)agG>agA p.R1650R NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4158 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTTCTGGGGTCCTCTGATGCC 0.468000 39 18 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50686456 50686456 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr10:50686456G>A uc001jhs.4 - 10 2384 c.2230C>T c.(2230-2232)Cgg>Tgg p.R744W ERCC6_uc009xod.3_5'Flank|ERCC6_uc010qgr.2_Missense_Mutation_p.R114W|ERCC6_uc001jhr.4_Missense_Mutation_p.R144W NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 744 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTCATTCTCCGCAGTAGGTAT 0.383000 Direct reversal of damage;Nucleotide excision repair (NER) 119 4 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691938 18691938 + Silent SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:18691938C>A uc001bau.2 + 5 1145 c.762C>A c.(760-762)ccC>ccA p.P254P IGSF21_uc001bav.2_Silent_p.P75P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 254 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCCCAGATCCCAACATCCTCC 0.637000 164 6 8.12818e-05 9.37867e-05 1 1 0 TRIP11 9321 broad.mit.edu 37 14 92471090 92471090 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92471090G>A uc001xzy.3 - 10 3604 c.3230C>T c.(3229-3231)tCa>tTa p.S1077L TRIP11_uc010auf.2_Missense_Mutation_p.S813L NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 1077 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) ATGGGAAGTTGAAGAAATTCT 0.368000 T PDGFRB AML 47 12 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471136 92471136 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr14:92471136G>T uc001xzy.3 - 10 3558 c.3184C>A c.(3184-3186)Cag>Aag p.Q1062K TRIP11_uc010auf.2_Missense_Mutation_p.Q798K NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 1062 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TCTTTCTGCTGAATAATCTGA 0.343000 T PDGFRB AML 42 8 5.4927e-09 7.20917e-09 1 1 0 THSD7A 221981 broad.mit.edu 37 7 11485803 11485803 + Silent SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:11485803C>A uc021zzo.1 - 12 3201 c.2949G>T c.(2947-2949)ctG>ctT p.L983L THSD7A_uc021zzn.1_Silent_p.L983L NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 983 TSP type-1 10. integral to membrane p.L982F(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTTTCATTCCCAGCAACACTT 0.433000 HNSCC(18;0.044) 86 4 1.23904e-05 1.46179e-05 1 1 0 BTNL8 79908 broad.mit.edu 37 5 180338480 180338480 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr5:180338480G>T uc003mmp.3 + 2 773 c.539G>T c.(538-540)aGg>aTg p.R180M BTNL8_uc003mmq.3_Missense_Mutation_p.R180M|BTNL8_uc010jll.3_Missense_Mutation_p.R180M|BTNL8_uc011dhg.2_Missense_Mutation_p.R55M|BTNL8_uc010jlm.3_Missense_Mutation_p.R64M|BTNL8_uc011dhh.2_5'UTR NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 180 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|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) ACAGACTCCAGGACAAACAGA 0.552000 91 24 2.21704e-12 3.02323e-12 1 1 0 SNX25 83891 broad.mit.edu 37 4 186180144 186180144 + Silent SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr4:186180144G>T uc003ixh.3 + 2 354 c.165G>T c.(163-165)gtG>gtT p.V55V NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN Homo sapiens sorting nexin 25 (SNX25), mRNA. 55 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) ACGTGGATGTGGTTAAAGTTG 0.468000 31 3 1 1 1 1 0 EML2 24139 broad.mit.edu 37 19 46124878 46124878 + Missense_Mutation SNP G C C TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr19:46124878G>C uc010xxm.2 - 12 1535 c.1462C>G c.(1462-1464)Cag>Gag p.Q488E EML2_uc002pcn.3_Missense_Mutation_p.Q287E|EML2_uc002pcp.3_Missense_Mutation_p.Q171E|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.Q434E|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.Q287E|EML2_uc010ekj.3_Missense_Mutation_p.H253Q NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 287 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) AGCACCGCCTGTGTGATACGG 0.667000 6 8 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31474904 31474904 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:31474904G>A uc003ntn.4 + 3 835 c.719G>A c.(718-720)cGt>cAt p.R240H MICB_uc011dnm.2_Missense_Mutation_p.R208H|MICB_uc021yuq.1_Missense_Mutation_p.R208H|MICB_uc003nto.4_Missense_Mutation_p.R197H NM_005931 NP_005922 Q29980 MICB_HUMAN Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA. 240 Ig-like C1-type. antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid MHC class I protein complex|integral to plasma membrane natural killer cell lectin-like receptor binding p.R240C(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 CTGACCTGGCGTCAGGATGGG 0.582000 31 22 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107068 121107068 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:121107068G>A uc002tmn.2 + 1 888 c.842G>A c.(841-843)cGg>cAg p.R281Q NM_002193 NP_002184 P09529 INHBB_HUMAN Homo sapiens inhibin, beta B (INHBB), mRNA. 281 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GTGCAGGCTCGGCTGGGCGAC 0.642000 58 26 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97217113 97217113 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr2:97217113G>A uc002swe.3 + 6 948 c.848G>A c.(847-849)gGg>gAg p.G283E ARID5A_uc010yuq.2_Missense_Mutation_p.G231E|ARID5A_uc002swf.3_Missense_Mutation_p.G119E|ARID5A_uc002swg.3_Missense_Mutation_p.G231E NM_212481 NP_997646 Q03989 ARI5A_HUMAN Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA. 283 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TGCCGCCATGGGGCAGAGCCC 0.652000 24 4 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37271732 37271732 + Nonsense_Mutation SNP T A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:37271732T>A uc001caz.2 - 13 2422 c.2287A>T c.(2287-2289)Aag>Tag p.K763* GRIK3_uc001cba.1_Nonsense_Mutation_p.K763* NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 763 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCGTAGCCCTTGGAGTCAATG 0.672000 46 8 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + Missense_Mutation SNP C T T rs141013110 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr6:26422353C>T uc011dkl.1 + 0 37 c.7C>T c.(7-9)Cca>Tca p.P3S BTN2A3P_uc011dkm.2_Non-coding_Transcript Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA. p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 96 4 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71715809 71715809 + Splice_Site SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr16:71715809C>T uc002fax.3 - 5 742 c.736_splice c.e5-1 p.V246_splice PHLPP2_uc002fav.3_Splice_Site|PHLPP2_uc010cgf.3_Splice_Site_p.V246_splice|PHLPP2_uc002fay.1_Splice_Site_p.V246_splice NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 246 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GGGACACCACCTGAATAATGT 0.433000 20 8 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534084 55534084 + Missense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr8:55534084C>A uc003xsd.1 + 1 706 c.558C>A c.(556-558)caC>caA p.H186Q RP1_uc011ldy.1_Missense_Mutation_p.H186Q NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 186 Doublecortin 2. 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) TTCTACAGCACCTGACAGAGG 0.602000 158 66 6.8682e-38 9.87892e-38 1 1 0 MAP1LC3C 440738 broad.mit.edu 37 1 242161837 242161837 + Missense_Mutation SNP G A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:242161837G>A uc001hzk.2 - 2 275 c.200C>T c.(199-201)aCc>aTc p.T67I NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN Homo sapiens microtubule-associated protein 1 light chain 3 gamma (MAP1LC3C), mRNA. 67 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding p.T67T(1) endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAGGAACTGGGTCATGGTCAG 0.622000 OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 18 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48426603 48426603 + Silent SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr10:48426603G>T uc001jfb.3 - 2 1832 c.1404C>A c.(1402-1404)ccC>ccA p.P468P GDF10_uc009xnp.3_Silent_p.P467P NM_004962 NP_004953 P55107 BMP3B_HUMAN Homo sapiens growth differentiation factor 10 (GDF10), mRNA. 468 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGGACATGTTGGGGTACACCT 0.587000 OREG0020165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 5 0.00116845 0.00129144 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10960063 10960063 + Missense_Mutation SNP G T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr3:10960063G>T uc003bvz.3 + 7 1079 c.1045G>T c.(1045-1047)Ggg>Tgg p.G349W NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 349 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CTTCGTGGCTGGGTTTGCCAT 0.597000 13 19 1.67942e-08 2.17702e-08 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92761033 92761033 + Nonsense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:92761033C>A uc003umh.1 - 4 5468 c.4252G>T c.(4252-4254)Gga>Tga p.G1418* SAMD9L_uc003umj.1_Nonsense_Mutation_p.G1418*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.G1418*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.G1418*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.G1418*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.G1418*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.G1418*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.G1418* NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1418 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGACTTAGTCCTACAAATTGC 0.398000 98 12 1.61879e-10 2.15156e-10 1 1 0 OR1L6 392390 broad.mit.edu 37 9 125512476 125512476 + Missense_Mutation SNP C T T TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr9:125512476C>T uc022bna.1 + 0 350 c.350C>T c.(349-351)gCc>gTc p.A117V NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TACCTGCTGGCCTCTATGGCC 0.502000 80 6 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962795 2962795 + Missense_Mutation SNP C A A rs146070546 TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr7:2962795C>A uc003smv.3 - 15 2447 c.2113G>T c.(2113-2115)Ggc>Tgc p.G705C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 705 PDZ. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCACGGAGGCCGGCTTTCTCG 0.652000 Mis DLBCL 37 3 2.56e-06 3.23855e-06 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70956768 70956768 + Missense_Mutation SNP C A A TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr12:70956768C>A uc001swb.4 - 13 3400 c.3370G>T c.(3370-3372)Ggg>Tgg p.G1124W PTPRB_uc010sto.2_Missense_Mutation_p.G1034W|PTPRB_uc010stp.2_Missense_Mutation_p.G1034W|PTPRB_uc001swc.4_Missense_Mutation_p.G1342W|PTPRB_uc001swa.4_Missense_Mutation_p.G1254W|PTPRB_uc001swd.4_Missense_Mutation_p.G1341W|PTPRB_uc009zrr.2_Missense_Mutation_p.G1221W NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1124 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGGAGATTCCCATCTGGGTTG 0.512000 27 6 0.00198382 0.0021698 1 1 0 ABL2 27 broad.mit.edu 37 1 179078493 179078493 + Frame_Shift_Del DEL C - - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr1:179078493delC uc001gmj.4 - 11 2196 c.1909delG c.(1909-1911)gaafs p.E637fs ABL2_uc010pnf.2_Frame_Shift_Del_p.E637fs|ABL2_uc010png.2_Frame_Shift_Del_p.E616fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.E616fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.E622fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.E622fs|ABL2_uc010pne.2_Frame_Shift_Del_p.E601fs NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 637 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTGGCATCTTCCAAGAGGCTG 0.542 T ETV6 AML --- 53 --- --- 65 --- LOC440434 440434 broad.mit.edu 37 17 36412964 36412964 + RNA DEL A - - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr17:36412964delA uc002hpx.2 - 1 c.231delT Homo sapiens aminopeptidase puromycin sensitive pseudogene (LOC440434), non-coding RNA. GGCTTGAGGCAAAGGCTGCAG 0.706 --- 4 --- --- 2 --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG - - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr18:34261459_34261460delAG uc021uiv.1 + 14 1993_1994 c.1896_1897delAG c.(1894-1899)gcagagfs p.A632fs FHOD3_uc002kzr.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.A457fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.A457fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.A172fs NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 457 Poly-Ser. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 --- 62 --- --- 8 --- SEL1L2 80343 broad.mit.edu 37 20 13830156 13830156 + Frame_Shift_Del DEL A - - TCGA-D9-A4Z5-01A-11D-A25O-08 TCGA-D9-A4Z5-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx D486B1EB-917D-4F21-8B9D-51D1F962B129 07157C0C-E999-48BF-865E-7AFE56A91202 g.chr20:13830156delA uc010gcf.3 - 19 2124 c.2042delT c.(2041-2043)ttgfs p.L681fs SEL1L2_uc002woq.4_Frame_Shift_Del_p.L542fs|SEL1L2_uc010zrl.2_Frame_Shift_Del_p.L568fs|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 681 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TCTAAGCAACAAAATCAGCCC 0.473 --- 22 --- --- 29 ---