Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut DEF8 54849 broad.mit.edu 37 16 90020690 90020691 + Missense_Mutation DNP CC CC TT TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:90020690_90020691CC>TT uc002fpn.2 + 2 346_347 c.213_214CC>TT c.(211-216)ttccgg>ttTTgg p.R72W DEF8_uc021tmu.1_Missense_Mutation_p.R11W|DEF8_uc002fpl.3_Missense_Mutation_p.R11W|DEF8_uc002fpm.3_Missense_Mutation_p.R11W|DEF8_uc002fpo.2_Missense_Mutation_p.R11W|DEF8_uc002fpp.2_Missense_Mutation_p.R11W|DEF8_uc021tmv.1_Missense_Mutation_p.R11W|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R11W NM_207514 NP_001229746 Q6ZN54 DEFI8_HUMAN Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA. 72 intracellular signal transduction zinc ion binding p.F71F(2) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) TGGCCCGTTTCCGGCAGGCCCA 0.644000 4 80 0 0 1 0 0 CSK 1445 broad.mit.edu 37 15 75091137 75091137 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr15:75091137G>A uc010bka.3 + 1 1201 c.408G>A c.(406-408)ctG>ctA p.L136L CSK_uc010bkb.1_Intron|CSK_uc002ays.2_Intron|CSK_uc010bkc.1_5'Flank P41240 CSK_HUMAN Homo sapiens c-src tyrosine kinase (CSK), transcript variant 1, mRNA. 0 SH2. T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway Golgi apparatus|centrosome|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 AGGTGGGCCTGAGAGCATGTC 0.617000 5 58 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670044 44670044 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr20:44670044G>C uc010zxl.1 + 7 1076 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E311Q NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 334 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGAAGGAAATGAGACGGTGAC 0.542000 6 74 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048729 180048729 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:180048729C>T uc003mlz.4 - 12 1912 c.1833G>A c.(1831-1833)aaG>aaA p.K611K FLT4_uc003mma.4_Silent_p.K611K|FLT4_uc003mmb.1_Silent_p.K144K|FLT4_uc011dgy.2_Silent_p.K611K NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 611 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GATGCACGTTCTTGCAGTCGA 0.672000 5 62 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906627 13906627 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:13906627C>T uc001rbt.2 - 2 813 c.634G>A c.(634-636)Gga>Aga p.G212R NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 212 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTAGAATCTCCATCGTCCAGG 0.473000 6 78 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244997 46244997 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:46244997C>T uc001ros.1 + 14 3091 c.3091C>T c.(3091-3093)Cag>Tag p.Q1031* ARID2_uc001ror.3_Nonsense_Mutation_p.Q1031*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q487*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q658*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q365* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1031 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGTACAAGTTCAGCAGCCCCA 0.502000 """N, S, F""" hepatocellular carcinoma 9 78 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5244672 5244672 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:5244672C>T uc003bqi.3 + 4 1012 c.880C>T c.(880-882)Cct>Tct p.P294S EDEM1_uc011asz.1_Missense_Mutation_p.P72S|EDEM1_uc021wsl.1_Missense_Mutation_p.P99S NM_014674 NP_055489 Q92611 EDEM1_HUMAN Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA. 294 ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GACAGGAGTTCCTCCTGACAC 0.512000 7 76 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134647628 134647628 + Splice_Site SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:134647628C>G uc021qbc.1 - 49 6968 c.6867_splice c.e49-1 p.R2289_splice NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 450 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGTCTGCACTCTGAAAGTCAG 0.502000 9 68 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949733 27949733 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr9:27949733C>T uc010mjf.1 - 6 1471 c.937G>A c.(937-939)Gag>Aag p.E313K LINGO2_uc003zqv.1_Missense_Mutation_p.E313K|LINGO2_uc003zqu.1_Missense_Mutation_p.E313K|LINGO2_uc022bfc.1_Missense_Mutation_p.E313K NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 313 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GAGTGAGGCTCAATGGTGCGA 0.542000 5 69 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122437591 122437591 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:122437591C>G uc003efq.4 + 13 4652 c.4593C>G c.(4591-4593)atC>atG p.I1531M PARP14_uc021xdc.1_Missense_Mutation_p.I1395M|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.I1248M|PARP14_uc003efs.1_Missense_Mutation_p.I1248M NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 1531 WWE. 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) CAGATTGTATCAGTGAGTTTA 0.388000 6 159 0 0 1 0 0 CNIH2 254263 broad.mit.edu 37 11 66050518 66050518 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:66050518G>C uc001ohi.1 + 3 443 c.211G>C c.(211-213)Gaa>Caa p.E71Q CNIH2_uc009yrb.1_Non-coding_Transcript NM_182553 NP_872359 Q6PI25 CNIH2_HUMAN Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA. 71 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 GGTGGTCCCAGAATACTCCAT 0.597000 OREG0021100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 157 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3824138 3824138 + Missense_Mutation SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:3824138T>C uc001iha.3 - 1 638 c.371A>G c.(370-372)aAg>aGg p.K124R KLF6_uc010qaj.2_Missense_Mutation_p.K124R|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.K124R|KLF6_uc001ihb.2_Missense_Mutation_p.K124R NM_001300 NP_001291 Q99612 KLF6_HUMAN Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA. 124 B cell differentiation nucleus zinc ion binding p.K124R(2) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) GGAGGTAAACTTGGCCGTGGG 0.532000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 152 0 0 1 0 0 CSDA 8531 broad.mit.edu 37 12 10862690 10862690 + Silent SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:10862690T>C uc001qyt.3 - 5 840 c.597A>G c.(595-597)gaA>gaG p.E199E CSDA_uc001qyu.3_Intron NM_003651 NP_003642 P16989 DBPA_HUMAN Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA. 199 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 19 Glioma(1;0.155) TGCCGCTCCCTTCCTCCTCCT 0.537000 2 20 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69201033 69201033 + Nonsense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:69201033C>G uc002ews.4 + 15 1985 c.1889C>G c.(1888-1890)tCa>tGa p.S630* CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.S547*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.S432* NM_032830 NP_116219 Q969X6 CIR1A_HUMAN Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA. 630 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACGAATGAATCAGATGTCATC 0.363000 4 84 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2233812 2233812 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:2233812C>T uc002fuj.3 - 9 2724 c.1767G>A c.(1765-1767)caG>caA p.Q589Q SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA. 589 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 AATTTACCTTCTGTTCATGAG 0.433000 4 75 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064628 7064628 + Silent SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:7064628C>G uc001mfb.1 + 3 1694 c.1371C>G c.(1369-1371)gtC>gtG p.V457V NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 457 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AATCTGATGTCTCTAGTTTTA 0.408000 4 84 0 0 1 0 0 EBPL 84650 broad.mit.edu 37 13 50237326 50237326 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr13:50237326C>T uc001vdg.3 - 2 310 c.247G>A c.(247-249)Gaa>Aaa p.E83K EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.E83K NM_032565 NP_115954 Q9BY08 EBPL_HUMAN Homo sapiens emopamil binding protein-like (EBPL), mRNA. 83 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) TTGCCATATTCTTTCCCTAAA 0.398000 6 81 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597776 36597776 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:36597776C>T uc001mwu.4 + 1 3046 c.2922C>T c.(2920-2922)ttC>ttT p.F974F RAG1_uc001mwt.3_Intron|RAG1_uc021qgb.1_Silent_p.F974F NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 974 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.R973S(1)|p.R973C(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTAGGCGCTTCCGGAAAATGA 0.468000 Familial Hemophagocytic Lymphohistiocytosis 8 86 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43616136 43616136 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:43616136G>A uc003joe.3 + 3 823 c.568G>A c.(568-570)Gat>Aat p.D190N NNT_uc003jof.3_Missense_Mutation_p.D190N NM_012343 NP_892022 Q13423 NNTM_HUMAN Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 190 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TCAGGGATATGATGCGCTAAG 0.443000 9 83 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3523039 3523039 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:3523039G>A uc010dtk.2 + 0 86 c.52G>A c.(52-54)Gag>Aag p.E18K FZR1_uc002lxt.2_Missense_Mutation_p.E18K|FZR1_uc002lxv.2_Missense_Mutation_p.E18K NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA. 18 DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CATCCAGAATGAGAACACGAT 0.687000 16 120 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451644 19451644 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:19451644C>G uc002dgc.4 + 2 1033 c.284C>G c.(283-285)tCt>tGt p.S95C TMC5_uc010vaq.2_Missense_Mutation_p.S95C|TMC5_uc002dgb.4_Missense_Mutation_p.S95C|TMC5_uc010var.2_Missense_Mutation_p.S95C NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 95 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCTGCAGCCTCTAGAACAAGC 0.483000 16 149 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18119799 18119799 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:18119799G>A uc002nhv.3 + 2 504 c.361G>A c.(361-363)Gag>Aag p.E121K ARRDC2_uc002nhu.3_Missense_Mutation_p.E116K NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA. 121 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 GACATCCTTCGAGGGCAAACA 0.617000 6 134 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47177807 47177807 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:47177807C>T uc010xye.2 - 18 2982 c.2640G>A c.(2638-2640)ggG>ggA p.G880G PRKD2_uc010eks.3_Silent_p.G273G|PRKD2_uc010ekt.3_Silent_p.G137G|PRKD2_uc002pfg.3_Silent_p.G713G|PRKD2_uc002pfh.3_Silent_p.G870G|PRKD2_uc002pfi.3_Silent_p.G870G|PRKD2_uc002pfj.3_Silent_p.G870G|PRKD2_uc002pfk.3_Silent_p.G713G|LOC100506068_uc021uwh.1_Intron NM_016457 NP_057541 Q9BZL6 KPCD2_HUMAN Homo sapiens protein kinase D2 (PRKD2), transcript variant 1, mRNA. 870 T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCTCCGCCAGCCCCTGCATGT 0.632000 5 36 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19195026 19195026 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:19195026G>A uc002dfw.3 + 4 839 c.508G>A c.(508-510)Gat>Aat p.D170N SYT17_uc002dfx.3_Missense_Mutation_p.D109N|SYT17_uc002dfy.3_Missense_Mutation_p.D166N NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN Homo sapiens synaptotagmin XVII (SYT17), mRNA. 170 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CAACAGCGACGATGTGGACTC 0.567000 9 75 0 0 1 0 0 CBX1 10951 broad.mit.edu 37 17 46148811 46148811 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:46148811C>G uc002ind.4 - 4 1025 c.544G>C c.(544-546)Gat>Cat p.D182H CBX1_uc002ine.4_Missense_Mutation_p.D182H NM_006807 NP_006798 P83916 CBX1_HUMAN Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA. 182 nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 TTCTTGTCATCTTTTTTGTCA 0.493000 3 43 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7979610 7979610 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:7979610G>A uc002gjy.1 - 10 1676 c.1415C>T c.(1414-1416)tCg>tTg p.S472L NM_001139 NP_001130 O75342 LX12B_HUMAN Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA. 472 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGTGAGCTCCGACAGAGCCCG 0.607000 Multiple Myeloma(8;0.094) 5 26 0 0 1 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42976211 42976211 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:42976211C>T uc003oth.3 + 8 1110 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Nonsense_Mutation_p.Q236*|PPP2R5D_uc011dva.2_Nonsense_Mutation_p.Q191*|PPP2R5D_uc003oti.3_Nonsense_Mutation_p.Q191*|PPP2R5D_uc021yzq.1_Nonsense_Mutation_p.Q310*|PPP2R5D_uc003otj.3_Nonsense_Mutation_p.Q191* NM_006245 NP_006236 Q14738 2A5D_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA. 342 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTACCACCCTCAGGTGAGCTG 0.532000 5 54 0 0 1 0 0 NASP 4678 broad.mit.edu 37 1 46080813 46080813 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:46080813C>T uc001coi.2 + 9 1954 c.1795C>T c.(1795-1797)Cag>Tag p.Q599* NASP_uc021omz.1_Nonsense_Mutation_p.Q601*|NASP_uc001coj.2_Nonsense_Mutation_p.Q260*|NASP_uc010olr.2_Nonsense_Mutation_p.Q535*|NASP_uc001col.2_Nonsense_Mutation_p.Q107* NM_002482 NP_002473 P49321 NASP_HUMAN Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA. 599 Glu-rich (acidic). DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding p.Q601*(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GTACAACTCTCAGTATGATGA 0.512000 4 85 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43680121 43680121 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:43680121G>C uc002ovu.3 - 2 741 c.610C>G c.(610-612)Cta>Gta p.L204V PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.L204V NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 204 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ACACTGGGTAGAATGAGGATC 0.507000 13 131 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173337561 173337561 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:173337561G>A uc003mcs.4 + 1 2567 c.1161G>A c.(1159-1161)gaG>gaA p.E387E CPEB4_uc010jju.2_Silent_p.E387E|CPEB4_uc010jjv.3_Silent_p.E387E|CPEB4_uc011dfg.2_Silent_p.E387E|CPEB4_uc003mcu.4_Silent_p.E5E NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA. 387 RNA binding|nucleotide binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACTCACTGGAGAGTTCACTCA 0.343000 9 115 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43858536 43858536 + Splice_Site SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:43858536C>T uc010skx.2 - 10 1368 c.1368_splice c.e10-1 p.D456_splice NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 456 Peptidase M12B. D -> E (in Ref. 2; CAD56159/CAD56160). proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTAACCAGTACTGTAACAGTG 0.343000 4 20 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172573902 172573902 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:172573902C>G uc003mci.4 + 1 222 c.118C>G c.(118-120)Ctt>Gtt p.L40V BNIP1_uc003mcj.4_Missense_Mutation_p.L40V|BNIP1_uc003mck.4_Missense_Mutation_p.L40V|BNIP1_uc003mcl.4_Missense_Mutation_p.L40V|BNIP1_uc021yhw.1_5'UTR NM_013979 NP_053582 Q12981 SEC20_HUMAN Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA. 40 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTTAAGTGCTCTTACTGAACT 0.408000 6 46 0 0 1 0 0 EIF3D 8664 broad.mit.edu 37 22 36920659 36920659 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr22:36920659C>T uc003apr.3 - 3 455 c.290G>A c.(289-291)cGa>cAa p.R97Q EIF3D_uc011amt.2_Intron|EIF3D_uc011ams.2_5'UTR NM_003753 NP_003744 O15371 EIF3D_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA. 97 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 AAATCTCATTCGATTCCGCTG 0.512000 14 114 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67979417 67979417 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:67979417C>G uc010vkj.1 - 20 2933 c.2893G>C c.(2893-2895)Gag>Cag p.E965Q LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E957Q|SLC12A4_uc010vkh.1_Missense_Mutation_p.E932Q|SLC12A4_uc002euz.2_Missense_Mutation_p.E963Q|SLC12A4_uc010vki.1_Missense_Mutation_p.E957Q|SLC12A4_uc002eva.2_Missense_Mutation_p.E963Q NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 963 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TACAGGCTCTCCAGCCGCAGG 0.597000 5 76 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 2 50 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125780318 125780318 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:125780318G>A uc001qcz.4 + 6 708 c.567G>A c.(565-567)caG>caA p.Q189Q DDX25_uc010sbk.2_Silent_p.Q189Q NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA. 189 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) TGGTTGAGCAGATGGGAAAAT 0.478000 10 118 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346814 71346814 + Nonsense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr4:71346814C>G uc011cat.2 + 3 641 c.353C>G c.(352-354)tCa>tGa p.S118* MUC7_uc011cau.2_Nonsense_Mutation_p.S118*|MUC7_uc003hfj.3_Nonsense_Mutation_p.S118* NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 118 Thr-rich. extracellular region protein binding p.P117Q(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACTTTCCCATCAGCTTCCACC 0.428000 5 69 0 0 1 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567496 140567496 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:140567496C>T uc003liw.1 + 0 604 c.604C>T c.(604-606)Cgg>Tgg p.R202W NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 202 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCACTGGATCGGGAGGAGCA 0.483000 22 168 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450556 155450556 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:155450556C>T uc003qqb.3 + 5 1472 c.199C>T c.(199-201)Cac>Tac p.H67Y TIAM2_uc003qqe.3_Missense_Mutation_p.H67Y NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 67 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTGCCTTTCTCACTTTAAGAG 0.547000 5 32 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39926406 39926406 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:39926406G>A uc021olw.1 + 56 16792 c.16792G>A c.(16792-16794)Gat>Aat p.D5598N MACF1_uc021ols.1_Missense_Mutation_p.D5093N|MACF1_uc021olt.1_Missense_Mutation_p.D5096N|MACF1_uc001cde.2_5'Flank NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 7054 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCGGCGCATTGATAAGGACCA 0.428000 10 150 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125780286 125780286 + Silent SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:125780286T>C uc001qcz.4 + 6 676 c.535T>C c.(535-537)Ttg>Ctg p.L179L DDX25_uc010sbk.2_Silent_p.L179L NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA. 179 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) TACTTATGAATTGGCTCTGCA 0.448000 10 103 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73834209 73834209 + Splice_Site SNP G G T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:73834209G>T uc011dyh.2 + 9 1568 c.1221_splice c.e9-1 p.K407_splice KCNQ5_uc003pgj.4_Splice_Site_p.K407_splice|KCNQ5_uc011dyi.2_Intron|KCNQ5_uc010kat.3_Intron|KCNQ5_uc003pgk.3_Splice_Site_p.K407_splice|KCNQ5_uc011dyj.2_Splice_Site_p.K407_splice|KCNQ5_uc011dyk.2_Intron NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 407 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCACCTGAAGGAAAGAACAAG 0.383000 4 50 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48040983 48040983 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:48040983C>G uc002rwe.3 - 16 2103 c.2030G>C c.(2029-2031)aGa>aCa p.R677T FBXO11_uc010fbl.3_Missense_Mutation_p.R593T|FBXO11_uc010fbk.3_Missense_Mutation_p.R101T|FBXO11_uc021vhe.1_Missense_Mutation_p.R477T NM_001190274 NP_001177203 Q86XK2 FBX11_HUMAN Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA. 677 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTGTTGCGTCTAATTTTGGG 0.348000 """Mis, F, D""" DLBCL 6 34 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4501226 4501226 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:4501226G>A uc002mao.3 + 14 1921 c.1828G>A c.(1828-1830)Gag>Aag p.E610K HDGFRP2_uc002map.3_Missense_Mutation_p.E610K|HDGFRP2_uc002maq.1_Missense_Mutation_p.E75K|HDGFRP2_uc010dua.3_Intron NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA. 605 transcription, DNA-dependent nucleus DNA binding|protein binding AGTGAATGGCGAGGCCACATC 0.637000 9 80 0 0 1 0 0 NPRL2 10641 broad.mit.edu 37 3 50386439 50386439 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:50386439C>T uc003daj.1 - 4 854 c.451G>A c.(451-453)Gag>Aag p.E151K CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank NM_006545 NP_006536 Q8WTW4 NPRL2_HUMAN Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA. 151 negative regulation of kinase activity protein binding|protein kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 11 GTGTTGGACTCATCTGCAGGG 0.557000 9 101 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3586871 3586871 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:3586871C>T uc002lyd.4 + 2 498 c.471C>T c.(469-471)atC>atT p.I157I NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA. 157 PDZ. breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GTGACAGCATCGAAGCCATCA 0.627000 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 42 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995226 36995226 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:36995226G>C uc010jwp.1 + 14 1798 c.1627G>C c.(1627-1629)Gac>Cac p.D543H FGD2_uc003ong.2_Missense_Mutation_p.D265H|FGD2_uc011dtv.1_Missense_Mutation_p.D171H|FGD2_uc003onj.1_Missense_Mutation_p.D120H NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 543 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.P542L(1) central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGCCACGCCTGACCAGAGCCT 0.617000 18 177 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9489680 9489680 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:9489680G>C uc021uon.1 + 2 237 c.76G>C c.(76-78)Gag>Cag p.E26Q ZNF177_uc002mli.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlj.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlk.3_Missense_Mutation_p.E26Q NM_001172651 NP_001166122 Q13360 ZN177_HUMAN Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA. 26 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 CTTTTCCCAGGAGGAGTGGGC 0.458000 5 53 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43348594 43348594 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr15:43348594C>G uc001zqq.3 - 10 1295 c.1229G>C c.(1228-1230)aGa>aCa p.R410T UBR1_uc010udk.1_Missense_Mutation_p.R410T NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 410 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AGAGATACTTCTGTCATGATC 0.284000 5 88 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24078449 24078449 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:24078449C>T uc001bho.3 + 3 1492 c.1432C>T c.(1432-1434)Cag>Tag p.Q478* NM_003198 NP_003189 Q14241 ELOA1_HUMAN Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA. 478 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GGACTCAGTTCAGAAATTACC 0.433000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 72 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31543617 31543617 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:31543617C>T uc003nui.3 + 0 268 c.99C>T c.(97-99)ctC>ctT p.L33L TNF_uc003nuj.3_5'Flank NM_000594 NP_000585 P01375 TNFA_HUMAN Homo sapiens tumor necrosis factor (TNF), mRNA. 33 activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) GCTTGTTCCTCAGCCTCTTCT 0.647000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 6 103 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51172499 51172499 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:51172499C>T uc002psx.1 - 21 2737 c.2718G>A c.(2716-2718)atG>atA p.M906I SHANK1_uc002psw.1_Missense_Mutation_p.M290I NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 906 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GGCTGAATTTCATGGCTGGGG 0.647000 OREG0025642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 41 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99063014 99063014 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr13:99063014C>T uc001vnh.3 + 14 1868 c.1629C>T c.(1627-1629)ttC>ttT p.F543F FARP1_uc001vnj.3_Silent_p.F543F NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA. 543 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAGCGTACTTCATAGCTAAGG 0.408000 3 28 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151475099 151475099 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:151475099C>T uc003ezc.3 + 4 1043 c.923C>T c.(922-924)tCa>tTa p.S308L MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.S95L NM_207365 NP_997248 Q6P093 ADCL2_HUMAN Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA. 308 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTTAGTTATTCATTGCCAGGA 0.363000 8 105 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10209302 10209302 + Silent SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:10209302T>C uc021ogc.1 + 20 3493 c.2805T>C c.(2803-2805)taT>taC p.Y935Y UBE4B_uc001aqs.4_Silent_p.Y884Y|UBE4B_uc001aqr.4_Silent_p.Y755Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.Y339Y NM_001105562 NP_001099032 O95155 UBE4B_HUMAN Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA. 884 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTGAGTTTTATGTAGAAGATG 0.274000 5 53 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128036808 128036808 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:128036808C>G uc002toh.1 - 9 1766 c.1671G>C c.(1669-1671)aaG>aaC p.K557N ERCC3_uc002toe.1_Missense_Mutation_p.K312N|ERCC3_uc002tof.1_Missense_Mutation_p.K493N|ERCC3_uc002tog.1_Missense_Mutation_p.K493N NM_000122 NP_000113 P19447 ERCC3_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA. 557 Helicase C-terminal. DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AGACAATAATCTTGTCATTCC 0.398000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 29 0 0 1 0 0 PHF16 9767 broad.mit.edu 37 X 46898446 46898446 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:46898446G>A uc004dgx.3 + 7 1002 c.951G>A c.(949-951)ttG>ttA p.L317L PHF16_uc004dgy.3_Silent_p.L317L NM_001077445 NP_055550 Q92613 JADE3_HUMAN Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA. 317 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TGTGCAAGTTGAAGACGGGGG 0.532000 6 24 0 0 1 0 0 TPT1 7178 broad.mit.edu 37 13 45914212 45914212 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr13:45914212G>A uc001uzy.1 - 2 303 c.210C>T c.(208-210)gtC>gtT p.V70V TPT1_uc001uzz.1_Silent_p.V36V|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank NM_003295 NP_003286 P13693 TCTP_HUMAN Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA. 70 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TGACAATATCGACACCAGTGA 0.458000 7 76 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45799002 45799002 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr21:45799002C>G uc010gpt.1 + 7 1237 c.1137C>G c.(1135-1137)atC>atG p.I379M TRPM2_uc002zet.1_Missense_Mutation_p.I379M|TRPM2_uc002zeu.1_Missense_Mutation_p.I379M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.I379M|TRPM2_uc002zex.1_Missense_Mutation_p.I165M NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 379 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 TCTCCCTGATCCAGCAGAAAC 0.597000 4 79 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45889407 45889407 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:45889407G>A uc002pbn.3 - 8 1924 c.1847C>T c.(1846-1848)tCc>tTc p.S616F PPP1R13L_uc002pbm.3_Missense_Mutation_p.S195F|PPP1R13L_uc002pbo.3_Missense_Mutation_p.S616F NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 616 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CTTGCGCGGGGAGCCCGCCTT 0.662000 4 10 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81122505 81122505 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr4:81122505C>T uc010ijo.3 + 6 1120 c.281C>T c.(280-282)tCg>tTg p.S94L PRDM8_uc003hmb.4_Missense_Mutation_p.S94L|PRDM8_uc003hmc.4_Missense_Mutation_p.S94L NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 94 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TTGGTCCAATCGGCCAGAGAT 0.483000 8 33 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821796 156821796 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:156821796G>A uc010pht.2 - 2 1124 c.825C>T c.(823-825)gtC>gtT p.V275V NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.V275V NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 275 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCAGCTGTGACACAGCGCC 0.657000 5 35 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15780234 15780234 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr4:15780234G>A uc003gol.1 + 0 304 c.197G>A c.(196-198)cGa>cAa p.R66Q CD38_uc021xmk.1_Non-coding_Transcript NM_001775 NP_001766 P28907 CD38_HUMAN Homo sapiens CD38 molecule (CD38), mRNA. 66 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane NAD+ nucleosidase activity|binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 GTCCTGGCGCGATGCGTCAAG 0.672000 11 62 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458006 42458006 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:42458006G>A uc002igt.1 - 13 1433 c.1401C>T c.(1399-1401)atC>atT p.I467I ITGA2B_uc002igu.1_5'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 467 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.I467I(2) biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) AAGCTCCCACGATCAGGTCTA 0.602000 12 77 0 0 1 0 0 PACSIN3 29763 broad.mit.edu 37 11 47200728 47200728 + Missense_Mutation SNP C C A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:47200728C>A uc001ndw.3 - 7 1225 c.882G>T c.(880-882)atG>atT p.M294I ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.M294I|PACSIN3_uc001ndx.3_Missense_Mutation_p.M294I NM_001184975 NP_057307 Q9UKS6 PACN3_HUMAN Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA. 294 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 GTGGCCAGTTCATGGCCATGC 0.627000 26 265 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 104851270 104851270 + Silent SNP C C A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:104851270C>A uc001tkz.3 + 0 579 c.81C>A c.(79-81)atC>atA p.I27I CHST11_uc001tky.3_Silent_p.I27I NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA. 27 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GATCCTTTATCCTGGTCATCT 0.532000 6 91 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59947626 59947626 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr18:59947626G>A uc002lil.3 + 22 3216 c.3001G>A c.(3001-3003)Gac>Aac p.D1001N KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron NM_020854 NP_065905 Q9P260 K1468_HUMAN Homo sapiens KIAA1468 (KIAA1468), mRNA. 1001 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) AGCGTTAGTTGACAAGCGGGT 0.448000 9 127 0 0 1 0 0 C17orf28 283987 broad.mit.edu 37 17 72959073 72959073 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:72959073C>T uc002jmj.4 - 3 640 c.491G>A c.(490-492)cGg>cAg p.R164Q C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.R163Q NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 164 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) AGTGCTCCTCCGGTGGCTCTG 0.662000 8 72 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464395 25464395 + Missense_Mutation SNP C C A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:25464395C>A uc001isj.3 + 0 106 c.46C>A c.(46-48)Cag>Aag p.Q16K LOC100128811_uc010qde.1_Intron NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 16 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCTGCTTGCTCAGCTGGGATT 0.637000 6 92 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229567331 229567331 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:229567331G>C uc001htm.3 - 6 1154 c.1049C>G c.(1048-1050)tCg>tGg p.S350W NM_001100 NP_001091 P68133 ACTS_HUMAN Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA. 350 S -> L (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGTGGACAGCGAGGCCAGGAT 0.627000 11 194 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48395650 48395650 + Silent SNP A A G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:48395650A>G uc002efn.1 - 1 1179 c.783T>C c.(781-783)caT>caC p.H261H MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efo.1_Silent_p.H230H|SIAH1_uc021ths.1_Silent_p.H230H|LOC100507577_uc021tht.1_5'Flank NM_001006610 NP_003022 Q8IUQ4 SIAH1_HUMAN Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 2, mRNA. 230 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) ATCGTCGCCTATGACCATTTA 0.443000 3 34 0 0 1 0 0 LAMP2 3920 broad.mit.edu 37 X 119573020 119573020 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:119573020G>C uc010nqp.1 - 8 1402 c.1222C>G c.(1222-1224)Cag>Gag p.Q408E LAMP2_uc004est.4_Intron|LAMP2_uc004ess.4_Intron|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.Q361E NM_013995 NP_054701 P13473 LAMP2_HUMAN Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant B, mRNA. 408 platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 TACAGAGTCTGATATCCAGCA 0.348000 7 33 0 0 1 0 0 COPZ1 22818 broad.mit.edu 37 12 54741787 54741787 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:54741787G>A uc009znm.1 + 6 520 c.423G>A c.(421-423)gtG>gtA p.V141V COPZ1_uc001sfs.1_Silent_p.V133V|COPZ1_uc001sft.2_Silent_p.V82V|COPZ1_uc010sot.1_Silent_p.V110V NM_016057 NP_057141 P61923 COPZ1_HUMAN Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA. 133 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 TTTGCAGGGTGATCCTAGAGA 0.512000 8 69 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380398 114380398 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:114380398G>A uc001eds.3 - 12 1754 c.1624C>T c.(1624-1626)Cca>Tca p.P542S PTPN22_uc021orx.1_Missense_Mutation_p.P542S|PTPN22_uc009wgq.3_Missense_Mutation_p.P487S|PTPN22_uc021ory.1_Missense_Mutation_p.P518S|PTPN22_uc010owo.2_Missense_Mutation_p.P298S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P542S|PTPN22_uc009wgs.2_Missense_Mutation_p.P415S|PTPN22_uc001edu.2_Missense_Mutation_p.P542S NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. 542 T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm SH3 domain binding|kinase binding|protein tyrosine phosphatase activity NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACCACTTGGAGGCCATGAT 0.393000 5 66 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662792 227662792 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:227662792G>A uc002voh.4 - 0 715 c.663C>T c.(661-663)ttC>ttT p.F221F IRS1_uc021vxn.1_Silent_p.F221F NM_005544 NP_005535 P35568 IRS1_HUMAN Homo sapiens insulin receptor substrate 1 (IRS1), mRNA. 221 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCTCGATGAAGAAGAAGTTTT 0.607000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 114 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7798683 7798683 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:7798683G>C uc002gjd.2 + 9 1709 c.1707G>C c.(1705-1707)caG>caC p.Q569H CHD3_uc002gje.2_Missense_Mutation_p.Q510H|CHD3_uc002gjf.2_Missense_Mutation_p.Q510H|CHD3_uc002gjg.1_Missense_Mutation_p.Q338H NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 510 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GTCGAGTGCAGAAGATCCTAC 0.557000 8 138 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67663340 67663340 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:67663340G>C uc002etl.3 + 9 2185 c.1741G>C c.(1741-1743)Gat>Cat p.D581H CTCF_uc010cek.3_Missense_Mutation_p.D253H|CTCF_uc002etm.1_Missense_Mutation_p.D70H NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 581 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.P580T(1) breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TGCTGGCCCAGATGGCGTAGA 0.408000 7 57 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027623 37027623 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:37027623G>A uc004ddl.2 + 0 1192 c.1140G>A c.(1138-1140)ccG>ccA p.P380P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 380 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATCTCTGCCCGGAACCTCCCA 0.617000 3 48 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65731499 65731499 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:65731499C>T uc009yqy.1 + 1 428 c.336C>T c.(334-336)ttC>ttT p.F112F SART1_uc010rot.1_Intron|SART1_uc001ogl.3_Intron O43290 SNUT1_HUMAN Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA. 0 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATGCTGGCTTCTTGGCCCTGT 0.567000 3 14 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10533478 10533478 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:10533478C>T uc002gmq.2 - 37 5581 c.5493G>A c.(5491-5493)caG>caA p.Q1831Q NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1831 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGTTCTTCTTCTGCTCTCCCT 0.552000 19 226 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97817702 97817702 + Nonsense_Mutation SNP C C T rs149060787 TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:97817702C>T uc010qoq.2 + 5 1215 c.856C>T c.(856-858)Cag>Tag p.Q286* LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Nonsense_Mutation_p.Q275*|CCNJ_uc001kln.3_Nonsense_Mutation_p.Q274* NM_001134375 NP_001127847 Q5T5M9 CCNJ_HUMAN Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA. 275 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) AGTTCACTTTCAGCAACCTCA 0.502000 14 159 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78437190 78437190 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:78437190C>T uc001ozl.4 - 22 3947 c.3484G>A c.(3484-3486)Gaa>Aaa p.E1162K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1162 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GCGTCAATTTCATAGCCCTGC 0.443000 26 234 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820385 178820385 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:178820385C>T uc001gma.3 - 5 1831 c.1355G>A c.(1354-1356)gGa>gAa p.G452E RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G452E NM_004673 NP_004664 O95841 ANGL1_HUMAN Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA. 452 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 GTACCATACTCCATTTAGGTT 0.438000 6 76 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52238848 52238848 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:52238848C>T uc011bec.2 + 5 1088 c.768C>T c.(766-768)ctC>ctT p.L256L ALAS1_uc003dcy.2_Silent_p.L239L|ALAS1_uc003dcz.2_Silent_p.L239L NM_199166 NP_954635 P13196 HEM1_HUMAN Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 239 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGACTCCCTCATCACCAAAA 0.473000 7 91 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12240312 12240312 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:12240312C>G uc001rac.3 + 2 800 c.599C>G c.(598-600)tCt>tGt p.S200C ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.S200C|BCL2L14_uc001rae.3_Missense_Mutation_p.S200C NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA. 200 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) GCTTCAAGTTCTAAGAAAGGT 0.532000 5 57 0 0 1 0 0 KCNIP2 30819 broad.mit.edu 37 10 103587154 103587154 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:103587154C>T uc001kuc.3 - 9 1166 c.814G>A c.(814-816)Gag>Aag p.E272K LOC100289509_uc021pxh.1_Intron|KCNIP2_uc010qqg.2_Missense_Mutation_p.E201K|KCNIP2_uc001ktx.3_Non-coding_Transcript|KCNIP2_uc001kty.3_Missense_Mutation_p.E155K|KCNIP2_uc001ktz.3_Missense_Mutation_p.E212K|KCNIP2_uc009xwv.3_Missense_Mutation_p.E203K|KCNIP2_uc001kub.3_Missense_Mutation_p.E257K|KCNIP2_uc001kue.3_Missense_Mutation_p.E239K|KCNIP2_uc001kud.3_Missense_Mutation_p.E214K|KCNIP2_uc001kuf.3_Missense_Mutation_p.E207K|KCNIP2_uc001kua.3_Missense_Mutation_p.E188K|KCNIP2_uc009xwu.3_Missense_Mutation_p.E206K NM_014591 NP_055406 Q9NS61 KCIP2_HUMAN Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA. 257 clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) ATGATGTTCTCATCCTGTGGC 0.527000 10 176 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74300217 74300217 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr9:74300217C>G uc011lsa.1 - 23 4588 c.4048G>C c.(4048-4050)Gaa>Caa p.E1350Q TMEM2_uc011lrz.1_Missense_Mutation_p.E343Q|TMEM2_uc010mos.2_Missense_Mutation_p.E1287Q|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.E184Q NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 1350 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ATGAATTGTTCAAGCACCCCA 0.458000 7 84 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4715019 4715019 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:4715019G>A uc003bqc.3 + 19 2709 c.2359G>A c.(2359-2361)Gtg>Atg p.V787M ITPR1_uc021wsi.1_Missense_Mutation_p.V802M|ITPR1_uc021wsj.1_Missense_Mutation_p.V787M|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 802 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGTCACCCCCGTGAAATATGC 0.562000 12 124 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18150552 18150552 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:18150552C>G uc002gsr.1 - 20 2658 c.2607G>C c.(2605-2607)aaG>aaC p.K869N FLII_uc002gsq.1_Missense_Mutation_p.K740N|FLII_uc010vxn.1_Missense_Mutation_p.K838N|FLII_uc010vxo.1_Missense_Mutation_p.K814N|FLII_uc002gss.1_Missense_Mutation_p.K868N NM_002018 NP_002009 Q13045 FLII_HUMAN Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA. 869 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TCTGGTCTTTCTTCTCGGCGT 0.667000 7 55 0 0 1 0 0 DNAJC25 548645 broad.mit.edu 37 9 114393996 114393996 + Frame_Shift_Del DEL G G - TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr9:114393996delG uc004bfl.3 + 0 365 c.309delG c.(307-309)ctgfs p.L103fs DNAJC25_uc004bfn.3_Frame_Shift_Del_p.L103fs|DNAJC25_uc004bfm.3_5'UTR NM_001015882 NP_001015882 Q9H1X3 DJC25_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA. 103 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 CTTTCCTGCTGGTGGCAACCG 0.741 2 4 --- --- --- ---