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 ZNF207 7756 broad.mit.edu 37 17 30678932 30678932 + Splice_Site SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:30678932G>T ENST00000394670.4 + 2 337 c.e2+1 ZNF207_ENST00000321233.6_Splice_Site|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Splice_Site|ZNF207_ENST00000394673.2_Splice_Site|ZNF207_ENST00000577908.1_Splice_Site|RP11-227G15.3_ENST00000581915.1_RNA NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTGCATGCAGGTAAGGATTTT 0.348000 5 237 1.23904e-05 1.30018e-05 1 1 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 412 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32502566 32502566 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr21:32502566G>A ENST00000286827.3 - 26 4481 c.4010C>T c.(4009-4011)aCg>aTg p.T1337M TIAM1_ENST00000541036.1_Missense_Mutation_p.T1277M NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1337 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CAGCGCTTCCGTGGGGATCAT 0.483000 6 711 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990830 21990830 + Missense_Mutation SNP A A C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:21990830A>C ENST00000594012.1 - 7 2505 c.1991T>G c.(1990-1992)aTa>aGa p.I664R ZNF43_ENST00000354959.4_Missense_Mutation_p.I670R|ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AGTATGAATTATCTTATGTTT 0.368000 6 397 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6853988 6853988 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:6853988A>T ENST00000304076.2 + 25 2391 c.2297A>T c.(2296-2298)aAa>aTa p.K766I VAV1_ENST00000599806.1_Missense_Mutation_p.K733I|VAV1_ENST00000596764.1_Missense_Mutation_p.K756I|VAV1_ENST00000539284.1_Missense_Mutation_p.K691I|VAV1_ENST00000602142.1_Missense_Mutation_p.K788I NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 788 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GGCACAGCCAAAGCCCGCTAT 0.542000 47 556 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72411216 72411216 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:72411216G>A ENST00000272427.6 - 21 2427 c.2297C>T c.(2296-2298)aCc>aTc p.T766I EXOC6B_ENST00000490919.1_5'UTR NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 766 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 CTCAAGCAGGGTCAGAGCAGT 0.507000 3 16 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739536 41739536 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:41739536G>A ENST00000352645.4 + 13 1672 c.1415G>A c.(1414-1416)cGg>cAg p.R472Q ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R472Q NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 488 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ATCCGGCCCCGGCCCACTAAG 0.682000 11 142 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59339 59339 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:59339G>A ENST00000509152.2 + 2 205 c.20G>A c.(19-21)aGg>aAg p.R7K ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R7K zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GTAACATTCAGGGATGTGGCC 0.418000 41 1688 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3829444 3829444 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:3829444G>C ENST00000324333.10 - 9 2250 c.2057C>G c.(2056-2058)tCc>tGc p.S686C GLIS3_ENST00000381971.3_Missense_Mutation_p.S841C|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 686 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AATTCTCTGGGAATCGGGGTA 0.532000 16 251 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 273 0 0 1 0 0 CRTAM 56253 broad.mit.edu 37 11 122726507 122726507 + Nonsense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:122726507C>T ENST00000227348.4 + 5 642 c.595C>T c.(595-597)Cga>Tga p.R199* NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 199 Ig-like C2-type. cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CTGCATTATCCGACACAGAGG 0.393000 116 153 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296384 62296384 + Silent SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:62296384A>G ENST00000378024.4 - 5 5779 c.5505T>C c.(5503-5505)gaT>gaC p.D1835D AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1835 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAACTTTGCATCAGGACACT 0.522000 9 1045 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536585 5536585 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:5536585T>C ENST00000380184.1 - 1 1350 c.1087A>G c.(1087-1089)Att>Gtt p.I363V HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 363 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TTGGTGGAAATCATAGCAGTG 0.488000 68 391 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263712 263712 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:263712G>A ENST00000360127.6 + 2 1094 c.1078G>A c.(1078-1080)Gag>Aag p.E360K AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 390 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCCGACCCCGAGGCCCTCAA 0.682000 5 415 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32546430 32546430 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:32546430C>G ENST00000382097.3 - 7 602 c.530G>C c.(529-531)tGt>tCt p.C177S NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 177 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GTCTTCAAGACAGACAGATAG 0.463000 6 588 0 0 1 0 0 WASH4P 0 broad.mit.edu 37 16 66940 66940 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:66940G>A ENST00000326592.9 - 5 1354 c.696C>T c.(694-696)agC>agT p.S232S p.S232S(1) GCTCTCTCTTGCTGATGGACA 0.597000 10 167 0 0 1 0 0 ZNF17 7565 broad.mit.edu 37 19 57931756 57931756 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:57931756C>T ENST00000307658.7 + 4 1165 c.902C>T c.(901-903)cCa>cTa p.P301L ZNF17_ENST00000601808.1_Missense_Mutation_p.P299L|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CACACCAGGCCAAGGCCTTAT 0.468000 28 449 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 10 506 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766286 43766286 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:43766286C>T ENST00000244293.7 - 3 501 c.435G>A c.(433-435)gaG>gaA p.E145E PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Silent_p.E145E|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.E145E Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 145 female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCTTGGGAGTCTCCACTGTGC 0.527000 8 947 0 0 1 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84532244 84532244 + RNA SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:84532244G>A ENST00000527857.1 + 0 2266 NR_026851.1 AGGGTCAGAGGTGCAATGTTC 0.448000 14 134 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50724643 50724643 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:50724643T>C ENST00000404971.1 - 15 4166 c.2827A>G c.(2827-2829)Ata>Gta p.I943V NRXN1_ENST00000401669.2_Missense_Mutation_p.I903V|NRXN1_ENST00000405472.3_Missense_Mutation_p.I895V|NRXN1_ENST00000406859.3_Missense_Mutation_p.I903V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.I895V|NRXN1_ENST00000406316.2_Missense_Mutation_p.I903V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 903 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGATCTGCTATGATGTTCCTG 0.418000 13 135 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56742351 56742351 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:56742351C>G ENST00000314128.4 - 19 1709 c.1686G>C c.(1684-1686)gaG>gaC p.E562D STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E558D P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 562 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CATGTACCAACTCCAGAATTT 0.532000 203 230 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276168 186276168 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:186276168C>T ENST00000445192.2 + 7 1362 c.1317C>T c.(1315-1317)acC>acT p.T439T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 439 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGAAGC 0.657000 5 313 0 0 1 0 0 NMBR 4829 broad.mit.edu 37 6 142399897 142399897 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:142399897C>T ENST00000258042.1 - 2 706 c.566G>A c.(565-567)aGc>aAc p.S189N NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 189 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) ATTATCCAAGCTACTGATGCG 0.483000 13 498 0 0 1 0 0 CMTM8 152189 broad.mit.edu 37 3 32398865 32398865 + Splice_Site SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:32398865G>T ENST00000307526.3 + 2 442 c.147_splice c.e2-1 p.V50_splice CMTM8_ENST00000458535.2_Intron NM_178868.3 NP_849199.2 Q8IZV2 CKLF8_HUMAN CKLF-like MARVEL transmembrane domain containing 8 50 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 CACTTTACAGGTTCTGGGGCT 0.448000 46 528 3.28156e-27 3.73863e-27 1 1 0 SYNJ1 8867 broad.mit.edu 37 21 34003517 34003517 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr21:34003517G>A ENST00000382491.3 - 28 4493 c.4369C>T c.(4369-4371)Ctg>Ttg p.L1457L SYNJ1_ENST00000433931.2_Silent_p.L1543L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.L1504L NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1504 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TGATTACCCAGTAAGTCTGAA 0.423000 5 380 0 0 1 0 0 MCHR1 0 broad.mit.edu 37 22 41077549 41077549 + Missense_Mutation SNP G G A rs149149384 byFrequency TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:41077549G>A ENST00000249016.4 + 2 1582 c.886G>A c.(886-888)Gca>Aca p.A296T MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 296 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 CATCACAGCCGCATACGTGAG 0.622000 5 494 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50804981 50804981 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:50804981C>T ENST00000440075.2 + 40 5580 c.5533C>T c.(5533-5535)Cgg>Tgg p.R1845W MYH14_ENST00000262269.8_Missense_Mutation_p.R1845W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1837W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1812W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1804W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1845W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1812W Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1804 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AGAGAGCGGGCGGCAGCAGCT 0.622000 39 299 0 0 1 0 0 MAL2 114569 broad.mit.edu 37 8 120255673 120255673 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:120255673C>T ENST00000276681.6 + 5 578 c.476C>T c.(475-477)aCg>aTg p.T159M RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR NM_052886.2 NP_443118.1 Q969L2 MAL2_HUMAN mal, T-cell differentiation protein 2 (gene/pseudogene) 159 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) GCCTTTATGACGACAGCTTGT 0.378000 5 55 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52975368 52975368 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:52975368G>C ENST00000371544.3 - 4 1161 c.899C>G c.(898-900)aCc>aGc p.T300S ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T300S|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 300 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CCGACAATTGGTATATTCTGG 0.299000 10 495 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152729 149152729 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:149152729C>T ENST00000247930.4 - 2 708 c.385G>A c.(385-387)Gtt>Att p.V129I NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGGAGTGAACGGGGGCTTCC 0.617000 83 1147 0 0 1 0 0 STAM 8027 broad.mit.edu 37 10 17746472 17746472 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr10:17746472C>T ENST00000377524.3 + 10 1170 c.955C>T c.(955-957)Ccc>Tcc p.P319S STAM_ENST00000540523.1_Missense_Mutation_p.P208S NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 319 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 AAGTACAGACCCCAGTGATGA 0.373000 15 639 0 0 1 0 0 SPRR2E 6704 broad.mit.edu 37 1 153066012 153066012 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:153066012C>A ENST00000368751.1 - 2 290 c.216G>T c.(214-216)aaG>aaT p.K72N SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.K72N P22531 SPR2E_HUMAN small proline-rich protein 2E 72 keratinization cornified envelope|cytoplasm protein binding|structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAAGCTGTTACTTGCTCTTGG 0.512000 81 767 3.33908e-46 3.84536e-46 1 1 0 FRS2 10818 broad.mit.edu 37 12 69968596 69968596 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:69968596C>T ENST00000299293.2 + 10 1898 c.1388C>T c.(1387-1389)aCc>aTc p.T463I FRS2_ENST00000550389.1_Missense_Mutation_p.T463I|FRS2_ENST00000549921.1_Missense_Mutation_p.T463I|FRS2_ENST00000397997.2_Missense_Mutation_p.T463I NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 463 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTTCCACAAACCCCTACCAGG 0.493000 5 317 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22696443 22696443 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:22696443C>T ENST00000454584.2 + 2 333 c.28C>T c.(28-30)Cgc>Tgc p.R10C GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Missense_Mutation_p.R10C|GAS2_ENST00000278187.3_Missense_Mutation_p.R10C NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 10 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 CCCAAAGGTACGCAGTGGACC 0.423000 105 143 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 542 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182606 140182606 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:140182606G>A ENST00000522353.2 + 1 1824 c.1824G>A c.(1822-1824)tcG>tcA p.S608S PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S608S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 p.S608S(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGCTTTCGTATGAGCTGC 0.677000 128 283 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1115519 1115519 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:1115519A>T ENST00000379290.1 + 6 478 c.305A>T c.(304-306)gAg>gTg p.E102V TTLL10_ENST00000379289.1_Missense_Mutation_p.E102V|TTLL10_ENST00000379288.3_Missense_Mutation_p.E29V Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 102 protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCGGACCTGGAGGGGGCAGAA 0.682000 59 32 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16068200 16068200 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:16068200T>C ENST00000352083.6 - 12 1560 c.1483A>G c.(1483-1485)Aca>Gca p.T495A SOX6_ENST00000527619.1_Missense_Mutation_p.T471A|SOX6_ENST00000528252.1_Missense_Mutation_p.T468A|SOX6_ENST00000396356.3_Missense_Mutation_p.T495A|SOX6_ENST00000316399.6_Missense_Mutation_p.T495A|SOX6_ENST00000528429.1_Missense_Mutation_p.T495A P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 495 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TTCATCACTGTATCCTGATCC 0.502000 14 255 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879250 39879250 + Missense_Mutation SNP A A G rs783822 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:39879250A>G ENST00000530275.1 + 1 3100 c.2905A>G c.(2905-2907)Acc>Gcc p.T969A MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 969 Ala-rich. T -> A (in dbSNP:rs783822). central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) AGAGGAGCCCACCTCCCCAGC 0.726000 6 83 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39446905 39446905 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr13:39446905G>A ENST00000280481.7 + 17 8226 c.8010G>A c.(8008-8010)gtG>gtA p.V2670V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2670 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTCCTATGTGACCCTTCGAG 0.443000 6 266 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95506861 95506861 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:95506861C>T ENST00000317968.4 + 6 992 c.856C>T c.(856-858)Ctt>Ttt p.L286F PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 286 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TTTCCGAATCCTTGCCCAGAT 0.468000 13 212 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227872866 227872866 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:227872866G>C ENST00000396625.3 - 47 4884 c.4677C>G c.(4675-4677)atC>atG p.I1559M COL4A4_ENST00000329662.7_Missense_Mutation_p.I1556M NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1559 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CATAGGGGCGGATCGCCTCTT 0.657000 21 100 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70824002 70824002 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:70824002C>G ENST00000373695.1 + 7 1412 c.875C>G c.(874-876)tCg>tGg p.S292W ACRC_ENST00000373696.3_Missense_Mutation_p.S292W Q96QF7 ACRC_HUMAN acidic repeat containing 292 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AGTGATGATTCGGAAGCTTCC 0.527000 22 959 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24593539 24593539 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:24593539A>T ENST00000264463.4 - 2 568 c.61T>A c.(61-63)Tct>Act p.S21T RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 21 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATTTCTGGAGAGCAGAAATGT 0.408000 HNSCC(23;0.051) 40 591 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96704950 96704950 + Silent SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:96704950T>C ENST00000261211.3 - 5 1026 c.423A>G c.(421-423)ttA>ttG p.L141L CDK17_ENST00000542666.1_Silent_p.L88L|CDK17_ENST00000543119.2_Silent_p.L141L NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 141 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 ACCGCTTATTTAAATCCTTAA 0.343000 18 206 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 16 65 0 0 1 0 0 RABGGTB 5876 broad.mit.edu 37 1 76253257 76253257 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:76253257A>G ENST00000319942.3 + 2 150 c.79A>G c.(79-81)Atc>Gtc p.I27V RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.I27V|RABGGTB_ENST00000496055.1_3'UTR NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 27 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 TGCAGATTATATCGCATCCTA 0.343000 251 219 0 0 1 0 0 SPATA25 128497 broad.mit.edu 37 20 44515437 44515437 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:44515437G>C ENST00000372519.3 - 2 447 c.403C>G c.(403-405)Cta>Gta p.L135V NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 135 integral to membrane GGTACCGGTAGAACCCGTGGT 0.642000 9 644 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 223 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87150105 87150105 + Nonsense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:87150105G>A ENST00000265724.3 - 23 3190 c.2773C>T c.(2773-2775)Cag>Tag p.Q925* ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q861* NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 925 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TATGGTACCTGCAAACTCTGA 0.403000 5 368 0 0 1 0 0 ARFIP2 23647 broad.mit.edu 37 11 6498495 6498495 + Missense_Mutation SNP T T G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:6498495T>G ENST00000254584.2 - 8 957 c.874A>C c.(874-876)Aag>Cag p.K292Q ARFIP2_ENST00000445086.2_Missense_Mutation_p.K207Q|ARFIP2_ENST00000423813.2_Missense_Mutation_p.K254Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.K292Q NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 292 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGCATCACCTTGATCTGGGGG 0.582000 46 45 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186435487 186435487 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:186435487C>A ENST00000265023.4 + 1 368 c.156C>A c.(154-156)aaC>aaA p.N52K KNG1_ENST00000447445.1_Missense_Mutation_p.N52K|KNG1_ENST00000287611.2_Missense_Mutation_p.N52K|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 52 Cystatin 1. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) AAAGTAACAACCAGTTTGTAT 0.398000 12 317 5.50884e-06 5.79973e-06 1 1 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 8 293 0 0 1 0 0 HOXA10 3206 broad.mit.edu 37 7 27213854 27213854 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:27213854G>A ENST00000283921.4 - 1 71 c.72C>T c.(70-72)ccC>ccT p.P24P RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 24 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 AGTTCGCGGCGGGGCTCTCCG 0.592000 136 233 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151857487 151857487 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:151857487C>T ENST00000367290.5 + 2 181 c.92C>T c.(91-93)aCg>aTg p.T31M CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 31 p.T31M(1) GTCCCGGTCACGCGGGAGCAG 0.433000 47 331 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110230501 110230501 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:110230501G>A ENST00000418703.2 - 10 1874 c.1780C>T c.(1780-1782)Cgt>Tgt p.R594C TRPV4_ENST00000536838.1_Missense_Mutation_p.R560C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534C NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 594 R -> H (in SMDK and PSTD). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TTCAGCCCACGGGTGAAGTAA 0.597000 37 135 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50310602 50310602 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:50310602G>A ENST00000338821.5 - 7 851 c.587C>T c.(586-588)aCg>aTg p.T196M ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 196 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTTCCAGTCCGTCTCCCCATC 0.632000 209 313 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3611456 3611456 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:3611456G>C ENST00000602557.1 - 6 1482 c.927C>G c.(925-927)ttC>ttG p.F309L CSMD1_ENST00000537824.1_Missense_Mutation_p.F309L|CSMD1_ENST00000520002.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F309L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F309L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F309L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F309L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 309 CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTACCTTGGAACTGAGCGT 0.403000 8 200 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 725 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874370 31874370 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr21:31874370G>A ENST00000334151.2 - 1 65 c.39C>T c.(37-39)taC>taT p.Y13Y NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 13 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CTCCGTAGCCGTAGCCCAGGC 0.572000 5 418 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2676769 2676769 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:2676769G>A ENST00000399655.1 + 13 1969 c.1704G>A c.(1702-1704)acG>acA p.T568T CACNA1C_ENST00000399617.1_Silent_p.T568T|CACNA1C_ENST00000335762.5_Silent_p.T593T|CACNA1C_ENST00000399601.1_Silent_p.T568T|CACNA1C_ENST00000399644.1_Silent_p.T568T|CACNA1C_ENST00000399638.1_Silent_p.T568T|CACNA1C_ENST00000399603.1_Silent_p.T568T|CACNA1C_ENST00000399637.1_Silent_p.T568T|CACNA1C_ENST00000399597.1_Silent_p.T568T|CACNA1C_ENST00000480911.1_Silent_p.T568T|CACNA1C_ENST00000399595.1_Silent_p.T568T|CACNA1C_ENST00000344100.3_Silent_p.T568T|CACNA1C_ENST00000402845.3_Silent_p.T568T|CACNA1C_ENST00000406454.3_Silent_p.T568T|CACNA1C_ENST00000399629.1_Silent_p.T568T|CACNA1C_ENST00000399591.1_Silent_p.T568T|CACNA1C_ENST00000347598.4_Silent_p.T568T|CACNA1C_ENST00000399641.1_Silent_p.T568T|CACNA1C_ENST00000399606.1_Silent_p.T568T|CACNA1C_ENST00000399649.1_Silent_p.T568T|CACNA1C_ENST00000399634.1_Silent_p.T568T|CACNA1C_ENST00000399621.1_Silent_p.T568T|CACNA1C_ENST00000327702.7_Silent_p.T568T NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 568 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCCTGTTCACGGCAGAGATGC 0.622000 8 48 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8555235 8555235 + Silent SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:8555235A>G ENST00000423345.4 - 9 2482 c.1962T>C c.(1960-1962)gaT>gaC p.D654D PRAM1_ENST00000255612.3_Silent_p.D653D Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 702 SH3. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 AGAAGTCGACATCATCGTACA 0.667000 4 189 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 9 60 2.17888e-05 2.27889e-05 1 1 0 MACROD2 140733 broad.mit.edu 37 20 14066290 14066290 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:14066290C>A ENST00000217246.4 + 3 582 c.187C>A c.(187-189)Cag>Aag p.Q63K MACROD2_ENST00000310348.4_Missense_Mutation_p.Q63K NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 63 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) GGAAACATCCCAGGTGAAGAA 0.303000 5 280 0.000602214 0.000619698 1 1 0 FDXR 2232 broad.mit.edu 37 17 72860052 72860052 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:72860052G>A ENST00000455107.2 - 10 1504 c.1088C>T c.(1087-1089)tCc>tTc p.S363F FDXR_ENST00000413947.2_Silent_p.I411I|FDXR_ENST00000581530.1_Silent_p.I386I|FDXR_ENST00000583917.1_Silent_p.I352I|FDXR_ENST00000582944.1_Silent_p.I372I|FDXR_ENST00000544854.1_Silent_p.I328I|FDXR_ENST00000420580.2_Silent_p.I340I|FDXR_ENST00000293195.5_Silent_p.I380I|FDXR_ENST00000442102.2_Silent_p.I423I P22570 ADRO_HUMAN ferredoxin reductase 0 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCACATTGGGGATGACCCCAA 0.587000 60 606 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142650922 142650922 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:142650922A>T ENST00000355265.2 - 9 1520 c.1046T>A c.(1045-1047)cTg>cAg p.L349Q KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 349 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CTCCTCCACCAGTTGTGACAT 0.532000 10 1739 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50213427 50213427 + RNA SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:50213427T>A ENST00000376025.2 - 0 310 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) tgtggctggttctggggtcgg 0.642000 8 652 0 0 1 0 0 FAM13B 0 broad.mit.edu 37 5 137289964 137289964 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:137289964C>T ENST00000033079.3 - 14 1994 c.1543G>A c.(1543-1545)Gac>Aac p.D515N FAM13B_ENST00000420893.2_Missense_Mutation_p.D515N|FAM13B_ENST00000425075.2_Missense_Mutation_p.D419N NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 515 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 GGAGGACAGTCCTCTTCCAAG 0.468000 39 281 0 0 1 0 0 HIST1H4C 8364 broad.mit.edu 37 6 26104209 26104209 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:26104209G>C ENST00000377803.2 + 1 106 c.34G>C c.(34-36)Ggg>Cgg p.G12R NM_003542.3 NP_003533.1 P62805 H4_HUMAN histone cluster 1, H4c 12 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 AAAAGGCTTGGGGAAGGGTGG 0.532000 6 315 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36043993 36043993 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:36043993C>T ENST00000262623.3 - 18 2725 c.2697G>A c.(2695-2697)gcG>gcA p.A899A NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 899 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CCTCCCACTGCGCCCGCAGCC 0.647000 38 619 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651162 1651162 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:1651162G>T ENST00000399676.2 + 1 130 c.92G>T c.(91-93)tGt>tTt p.C31F NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 31 C -> R (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) tgtggaggctgtggctctggc 0.716000 6 295 0.217242 0.218613 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 259 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:7577547C>T ENST00000420246.2 - 7 866 c.734G>A c.(733-735)gGc>gAc p.G245D TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGGTTCATGCCGCCCATGCA 0.582000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 170 117 0 0 1 0 0 PDE1B 0 broad.mit.edu 37 12 54960852 54960852 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:54960852G>A ENST00000243052.3 + 3 644 c.208G>A c.(208-210)Gtc>Atc p.V70I PDE1B_ENST00000538346.1_Missense_Mutation_p.V29I|PDE1B_ENST00000550620.1_Missense_Mutation_p.V50I|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 70 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GCTGGAAGCCGTCTACATAGA 0.478000 10 83 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205904836 205904836 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:205904836C>T ENST00000367135.3 - 2 226 c.113G>A c.(112-114)cGc>cAc p.R38H SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38H|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38H NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 38 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GAAGGCATTGCGAAGTTTCTC 0.552000 35 316 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276567 186276567 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:186276567C>T ENST00000445192.2 + 7 1761 c.1716C>T c.(1714-1716)acC>acT p.T572T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T479T|PRG4_ENST00000367486.3_Silent_p.T529T|PRG4_ENST00000367483.4_Silent_p.T531T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGAAGC 0.642000 5 326 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890089 55890089 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:55890089A>G ENST00000313472.3 + 1 241 c.241A>G c.(241-243)Aaa>Gaa p.K81E NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CGTCACACCTAAAACCTTAGC 0.428000 131 1141 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102974161 102974161 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:102974161G>A ENST00000372617.4 - 7 1177 c.757C>T c.(757-759)Cgg>Tgg p.R253W NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 253 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CCCATCTGCCGTTCCAGGTGA 0.557000 7 608 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4824814 4824814 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:4824814C>T ENST00000380382.1 - 1 1033 c.1034G>A c.(1033-1035)cGc>cAc p.R345H MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.R266H Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGCCAAAGCGGTAGGTGAG 0.473000 8 580 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55464881 55464881 + Missense_Mutation SNP C C T rs74315285 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:55464881C>T ENST00000371265.4 + 1 276 c.22C>T c.(22-24)Cgg>Tgg p.R8W NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 8 R -> L (in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER).|R -> W (in BS4A; completely abolishes CLCNKA activation). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GAAGACCTTCCGGATCGGCTT 0.622000 14 420 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48563497 48563497 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:48563497C>T ENST00000358350.4 - 33 4457 c.3853G>A c.(3853-3855)Gcc>Acc p.A1285T FRYL_ENST00000503238.1_Missense_Mutation_p.A1285T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A1285T|FRYL_ENST00000537810.1_Missense_Mutation_p.A1285T NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 1285 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GAGAATATGGCGAGAGTTAGC 0.358000 245 158 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620499 14620499 + Nonsense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:14620499G>A ENST00000403951.2 - 19 2019 c.1600C>T c.(1600-1602)Cga>Tga p.R534* DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534* Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 534 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CCTCCCCATCGCAGGCATCTT 0.428000 81 492 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215848571 215848571 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:215848571C>T ENST00000272895.7 - 29 4401 c.4182G>A c.(4180-4182)ctG>ctA p.L1394L ABCA12_ENST00000389661.4_Silent_p.L1076L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1394 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGCCCCAAACAGCCCAGTTA 0.403000 62 114 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26377224 26377224 + Silent SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr10:26377224T>C ENST00000265944.5 + 15 1618 c.1452T>C c.(1450-1452)tcT>tcC p.S484S MYO3A_ENST00000543632.1_Silent_p.S484S NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 484 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATGACAATTCTAGCAGATTTG 0.378000 5 300 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151121990 151121990 + Silent SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:151121990T>C ENST00000367328.1 + 7 1077 c.765T>C c.(763-765)taT>taC p.Y255Y PLEKHG1_ENST00000358517.2_Silent_p.Y255Y NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 255 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TTCTCAAGTATCATCTCCTTC 0.448000 9 316 0 0 1 0 0 LINC00966 0 broad.mit.edu 37 8 65291725 65291725 + RNA SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:65291725C>A ENST00000521441.1 + 0 655 MIR124-2_ENST00000385081.1_RNA AGAGGCTCTGCTCTCCGTGTT 0.527000 5 244 0.248553 0.249334 1 1 0 ZNF519 162655 broad.mit.edu 37 18 14105291 14105291 + Silent SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr18:14105291A>G ENST00000590202.1 - 3 1400 c.1248T>C c.(1246-1248)gcT>gcC p.A416A ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TAAGGTGTGAAGCTCTGTTAA 0.413000 6 475 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 201 0 0 1 0 0 TIGD5 84948 broad.mit.edu 37 8 144681662 144681662 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:144681662C>T ENST00000504548.2 + 1 1589 c.1589C>T c.(1588-1590)gCg>gTg p.A530V TIGD5_ENST00000321385.3_Missense_Mutation_p.A481V NM_032862.4 NP_116251.4 E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 530 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GAGGAGGTTGCGGAGTGGCTG 0.731000 11 32 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130881264 130881264 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:130881264C>T ENST00000383366.4 + 11 1268 c.975C>T c.(973-975)atC>atT p.I325I NEK11_ENST00000511262.1_Silent_p.I325I|NEK11_ENST00000429253.2_Silent_p.I325I|NEK11_ENST00000510688.1_Silent_p.I325I|NEK11_ENST00000356918.4_Silent_p.I325I|NEK11_ENST00000507910.1_Silent_p.I325I|NEK11_ENST00000412440.2_Silent_p.I177I|NEK11_ENST00000508196.1_Silent_p.I325I|NEK11_ENST00000510769.1_Silent_p.I220I NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 325 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AAAAAAGGATCCACCTGCAGA 0.423000 108 858 0 0 1 0 0 ZNF519 162655 broad.mit.edu 37 18 14105287 14105287 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr18:14105287G>A ENST00000590202.1 - 3 1404 c.1252C>T c.(1252-1254)Cac>Tac p.H418Y ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TGAGTAAGGTGTGAAGCTCTG 0.408000 6 478 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105010418 105010418 + Missense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:105010418T>A ENST00000507740.1 + 15 2662 c.2426T>A c.(2425-2427)tTt>tAt p.F809Y RIMS2_ENST00000436393.2_Missense_Mutation_p.F795Y|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1076 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGCAGTCATTTTCTTACTCTA 0.333000 HNSCC(12;0.0054) 12 398 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292822 102292822 + RNA SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:102292822G>C ENST00000561463.1 + 0 868 GTGGGAACGAGAAGACACTCG 0.597000 5 89 0 0 1 0 0 OR2V2 285659 broad.mit.edu 37 5 180581955 180581955 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:180581955G>T ENST00000328275.1 + 1 13 c.13G>T c.(13-15)Gtg>Ttg p.V5L NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGACGTGGGTGAACCAGTC 0.493000 11 365 1.08611e-07 1.15876e-07 1 1 0 MPDZ 8777 broad.mit.edu 37 9 13224583 13224583 + Splice_Site SNP C C T rs10960971 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:13224583C>T ENST00000319217.7 - 4 431 c.e4-1 MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CAATATTTACCTAAGAGTAAT 0.333000 5 112 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715195 92715195 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:92715195G>T ENST00000257068.2 + 2 812 c.806G>T c.(805-807)tGc>tTc p.C269F NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 269 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCACTTAACTGCATCGGCCTC 0.537000 51 559 1.57914e-17 1.74307e-17 1 1 0 CACNA2D2 9254 broad.mit.edu 37 3 50417244 50417244 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:50417244A>T ENST00000435965.1 - 10 1078 c.905T>A c.(904-906)gTg>gAg p.V302E CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V302E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V233E Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 302 VWFA. energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CAGGCCGCTCACACTGCCACT 0.587000 8 218 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045691 26045691 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:26045691G>A ENST00000540144.1 + 1 53 c.53G>A c.(52-54)cGc>cAc p.R18H NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 18 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AAAGCTCCGCGCAAGCAGCTT 0.587000 5 366 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 4 177 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120312438 120312438 + Missense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:120312438T>A ENST00000397843.2 + 14 1281 c.1115T>A c.(1114-1116)tTc>tAc p.F372Y ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F353Y|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F269Y NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 372 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TGCAGCTGTTTCCAGAGCATT 0.378000 T MLL AML 9 432 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100654450 100654450 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:100654450A>G ENST00000358544.2 + 34 5818 c.5707A>G c.(5707-5709)Agc>Ggc p.S1903G VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1878G NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1903 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTCTTAAGGAGCAGCATTTC 0.428000 8 592 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35047946 35047946 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:35047946C>T ENST00000231420.6 - 1 252 c.52G>A c.(52-54)Gct>Act p.A18T NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 18 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ATCCTGGGAGCGGAAGTGACC 0.552000 5 322 0 0 1 0 0 STXBP6 0 broad.mit.edu 37 14 25325188 25325188 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:25325188C>T ENST00000323944.5 - 4 856 c.405G>A c.(403-405)acG>acA p.T135T STXBP6_ENST00000550887.1_Silent_p.T135T|STXBP6_ENST00000396700.1_Silent_p.T135T|STXBP6_ENST00000548724.1_Silent_p.T135T|STXBP6_ENST00000419632.2_Silent_p.T135T|STXBP6_ENST00000546511.1_Silent_p.T135T|STXBP6_ENST00000358326.2_Silent_p.T135T Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) 135 vesicle-mediated transport cytoplasm|integral to membrane central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) GCTTCCTGTCCGTGAGGTACC 0.443000 24 282 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20243648 20243648 + Missense_Mutation SNP G G C rs149798734 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:20243648G>C ENST00000245957.5 + 21 2453 c.2377G>C c.(2377-2379)Gag>Cag p.E793Q RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E149Q|C20orf26_ENST00000377309.2_Missense_Mutation_p.E149Q|C20orf26_ENST00000389656.3_Missense_Mutation_p.E149Q NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 793 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GACAAACAGGGAGGTTCCCAA 0.458000 10 542 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965518 123965518 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:123965518G>T ENST00000314393.4 + 3 2603 c.1768G>T c.(1768-1770)Gct>Tct p.A590S NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 590 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CATGGAACAAGCTGTCTTGGA 0.567000 5 366 0.000602214 0.000619698 1 1 0 PEG3 5178 broad.mit.edu 37 19 57328548 57328548 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:57328548T>C ENST00000326441.9 - 10 1625 c.1262A>G c.(1261-1263)gAg>gGg p.E421G ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E295G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E421G|PEG3_ENST00000598410.1_Missense_Mutation_p.E297G|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 421 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTTTCTCATCTCACTACCACA 0.493000 69 592 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49937267 49937267 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:49937267G>C ENST00000221485.3 - 6 845 c.674C>G c.(673-675)gCc>gGc p.A225G SLC17A7_ENST00000543531.1_Missense_Mutation_p.A213G|SLC17A7_ENST00000600601.1_Missense_Mutation_p.A158G NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 225 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) AAGGACCCCGGCGAGGGGCAT 0.657000 76 86 0 0 1 0 0 TIGD6 81789 broad.mit.edu 37 5 149375208 149375208 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:149375208G>C ENST00000296736.3 - 2 1478 c.704C>G c.(703-705)cCa>cGa p.P235R TIGD6_ENST00000515406.2_Missense_Mutation_p.P235R NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 235 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GAGGCAGTGTGGGCTGGCTGA 0.502000 46 212 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11618812 11618812 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:11618812T>C ENST00000270517.7 - 5 925 c.790A>G c.(790-792)Atc>Gtc p.I264V ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.I264V|ECSIT_ENST00000592312.1_Missense_Mutation_p.I148V|ECSIT_ENST00000417981.2_Missense_Mutation_p.I50V|ECSIT_ENST00000252440.7_Missense_Mutation_p.I264V|ECSIT_ENST00000588998.1_Missense_Mutation_p.I50V NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 264 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TTACCTACGATGTGGGGCTGG 0.592000 42 295 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747253 19747253 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:19747253C>T ENST00000507958.1 - 6 1311 c.321G>A c.(319-321)acG>acA p.T107T CDH18_ENST00000506372.1_Silent_p.T107T|CDH18_ENST00000382275.1_Silent_p.T107T|CDH18_ENST00000274170.4_Silent_p.T107T|CDH18_ENST00000502796.1_Silent_p.T107T|CDH18_ENST00000511273.1_Silent_p.T107T Q13634 CAD18_HUMAN cadherin 18, type 2 107 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T107T(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GGATATCACCCGTGGTATCGT 0.443000 36 496 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 8 405 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154570940 154570940 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:154570940C>A ENST00000368474.4 - 3 1922 c.1723G>T c.(1723-1725)Gcc>Tcc p.A575S ADAR_ENST00000292205.5_Missense_Mutation_p.A618S|ADAR_ENST00000368471.3_Missense_Mutation_p.A280S NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 575 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CTGTCCTTGGCTTTGGCTTCC 0.498000 57 381 2.18419e-29 2.49734e-29 1 1 0 OR10H2 26538 broad.mit.edu 37 19 15839203 15839203 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:15839203T>C ENST00000305899.3 + 1 370 c.350T>C c.(349-351)gTc>gCc p.V117A NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CTGCTCACCGTCATGGGCTAC 0.647000 12 147 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137524808 137524808 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:137524808C>T ENST00000394886.2 - 16 1683 c.1653G>A c.(1651-1653)cgG>cgA p.R551R NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 551 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTAGGATTTGCCGGAGTAAGG 0.488000 5 333 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066355 23066355 + Nonsense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:23066355T>A ENST00000246006.4 - 1 622 c.475A>T c.(475-477)Aag>Tag p.K159* NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 159 C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCAGACCACTTGGGGAGGCGG 0.627000 23 247 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19805853 19805853 + Splice_Site SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:19805853T>C ENST00000311322.8 + 2 719 c.e2+2 LPL_ENST00000521994.1_Splice_Site NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GGCTGGACGGTAAGGGAGGCT 0.562000 12 194 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51063767 51063767 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:51063767C>T ENST00000547307.1 - 8 1735 c.1330G>A c.(1330-1332)Ggt>Agt p.G444S ARSA_ENST00000216124.5_Missense_Mutation_p.G446S|ARSA_ENST00000356098.5_Missense_Mutation_p.G446S|ARSA_ENST00000453344.2_Missense_Mutation_p.G360S|ARSA_ENST00000547805.1_Missense_Mutation_p.G444S|ARSA_ENST00000395619.3_Missense_Mutation_p.G446S|ARSA_ENST00000395621.3_Missense_Mutation_p.G446S P15289 ARSA_HUMAN arylsulfatase A 444 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CCGGCCACACCCCCCAGCAGG 0.637000 50 504 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 16 182 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 5 24 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34052182 34052182 + Missense_Mutation SNP T T G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:34052182T>G ENST00000373381.4 - 46 7149 c.6973A>C c.(6973-6975)Acc>Ccc p.T2325P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2327 Sushi 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCACTAAGGTAAAGCCAGGG 0.478000 5 378 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54254644 54254644 + Missense_Mutation SNP T T G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:54254644T>G ENST00000259782.4 + 11 1448 c.1352T>G c.(1351-1353)cTt>cGt p.L451R NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 451 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTCAGGATTCTTCGAGGAGTA 0.393000 50 506 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167874317 167874317 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:167874317G>T ENST00000367851.4 - 2 246 c.62C>A c.(61-63)cCa>cAa p.P21Q ADCY10_ENST00000476818.2_Missense_Mutation_p.P21Q|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 21 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AATGAGGTCTGGTAAATGAGC 0.423000 5 372 0.0293803 0.0299435 1 1 0 TENM1 10178 broad.mit.edu 37 X 123514403 123514403 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:123514403C>T ENST00000422452.2 - 32 8245 c.8182G>A c.(8182-8184)Gaa>Aaa p.E2728K TENM1_ENST00000371130.3_Missense_Mutation_p.E2721K|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGCCTATTTCGCTCTGTCTC 0.373000 30 281 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869606 174869606 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:174869606G>T ENST00000393752.2 - 2 1489 c.497C>A c.(496-498)gCa>gAa p.A166E NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 166 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TGTGGGTTTTGCCTTGTGCCA 0.532000 30 237 6.00712e-18 6.65372e-18 1 1 0 APOB 338 broad.mit.edu 37 2 21256298 21256298 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:21256298T>C ENST00000233242.1 - 9 1124 c.997A>G c.(997-999)Aaa>Gaa p.K333E APOB_ENST00000399256.4_Missense_Mutation_p.K333E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 333 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTAGTTTTTTCAGTTCCTGG 0.458000 9 491 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7727300 7727300 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:7727300G>A ENST00000338316.4 + 14 1886 c.1797G>A c.(1795-1797)gcG>gcA p.A599A RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 599 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CACTGCCAGCGTTCAAGTATT 0.502000 101 273 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62654185 62654185 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:62654185A>T ENST00000535781.1 + 13 1834 c.1723A>T c.(1723-1725)Agt>Tgt p.S575C ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 575 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CAGCAAGAAGAGTGTGTGGCT 0.577000 127 273 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88967194 88967194 + Missense_Mutation SNP A A C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:88967194A>C ENST00000556564.1 - 8 981 c.697T>G c.(697-699)Tcc>Gcc p.S233A RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.S233A|PTPN21_ENST00000554628.1_5'UTR NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 233 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GCTCCAATGGATATGTCACTT 0.423000 10 406 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 12 497 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984296 41984296 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:41984296C>T ENST00000333141.5 + 1 584 c.487C>T c.(487-489)Cgg>Tgg p.R163W NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 163 p.R163W(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 CCCAGCGTCGCGGTTCTTAAG 0.587000 39 547 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31842799 31842799 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:31842799C>T ENST00000544672.1 - 5 317 c.21G>A c.(19-21)aaG>aaA p.K7K SLC44A4_ENST00000229729.6_Silent_p.K83K|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Silent_p.K83K NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 83 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GGAGATACGGCTTATCTCTGT 0.572000 107 285 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50779289 50779289 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:50779289C>A ENST00000440075.2 + 28 3556 c.3509C>A c.(3508-3510)tCc>tAc p.S1170Y MYH14_ENST00000262269.8_Missense_Mutation_p.S1170Y|MYH14_ENST00000376970.2_Missense_Mutation_p.S1162Y|MYH14_ENST00000425460.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000596571.1_Missense_Mutation_p.S1129Y|MYH14_ENST00000601313.1_Missense_Mutation_p.S1170Y|MYH14_ENST00000598205.1_Missense_Mutation_p.S1137Y Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1129 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CTGCTGAAATCCCTGCGGGAG 0.667000 76 69 1.21457e-23 1.36425e-23 1 1 0 EVX2 344191 broad.mit.edu 37 2 176947163 176947163 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:176947163C>T ENST00000308618.4 - 2 578 c.442G>A c.(442-444)Ggc>Agc p.G148S NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GCAGCCGAGCCGCTCTCTGCG 0.721000 4 134 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180043443 180043443 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:180043443C>T ENST00000261937.6 - 23 3221 c.3143G>A c.(3142-3144)aGc>aAc p.S1048N FLT4_ENST00000502649.1_Missense_Mutation_p.S1048N|FLT4_ENST00000393347.3_Missense_Mutation_p.S1048N NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1048 Protein kinase. 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) CACCACGTCGCTTTCCGACAG 0.612000 8 294 0 0 1 0 0 LSM14B 149986 broad.mit.edu 37 20 60701382 60701382 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:60701382C>A ENST00000253001.4 + 3 520 c.314C>A c.(313-315)gCc>gAc p.A105D LSM14B_ENST00000279068.6_Missense_Mutation_p.A105D|LSM14B_ENST00000370915.1_Missense_Mutation_p.A105D Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 105 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) TCTGCCTCCGCCTCGCCCTTC 0.662000 7 258 2.74318e-10 2.96635e-10 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23526354 23526354 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:23526354A>G ENST00000296682.3 + 11 1339 c.1157A>G c.(1156-1158)gAg>gGg p.E386G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 386 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCAAAGCCAGAGATCCATCCA 0.428000 HNSCC(3;0.000094) 37 680 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003851 34003851 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:34003851C>T ENST00000374181.3 - 8 2205 c.2036G>A c.(2035-2037)cGc>cAc p.R679H GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000544773.1_Missense_Mutation_p.R510H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000538487.1_Missense_Mutation_p.R679H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000545715.1_Missense_Mutation_p.R371H NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 679 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTCGAAGATGCGGTAGATGCG 0.627000 5 403 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32504185 32504185 + Nonsense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:32504185C>A ENST00000327300.7 + 7 1307 c.1140C>A c.(1138-1140)taC>taA p.Y380* KHDRBS1_ENST00000492989.1_Nonsense_Mutation_p.Y341*|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 380 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AACAAAGTTACGAAGGCTACG 0.398000 5 259 1.06961e-07 1.14499e-07 1 1 0 ACKR3 57007 broad.mit.edu 37 2 237489598 237489598 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:237489598G>A ENST00000272928.3 + 2 800 c.490G>A c.(490-492)Gtc>Atc p.V164I NM_020311.2 NP_064707.1 atypical chemokine receptor 3 ACGCCGTGTCGTCTGCATCCT 0.572000 7 398 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115677 15115677 + Missense_Mutation SNP C C T rs147577833 byFrequency TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:15115677C>T ENST00000253699.3 - 14 2580 c.1967G>A c.(1966-1968)cGc>cAc p.R656H ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 656 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TTTCAGGATGCGGGCTGAAGG 0.562000 6 851 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364535 5364535 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:5364535T>C ENST00000300773.2 - 1 274 c.220A>G c.(220-222)Acc>Gcc p.T74A HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T74A(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCATTGTGGTCAGGGCCAGC 0.542000 24 171 0 0 1 0 0 MYL3 4634 broad.mit.edu 37 3 46902236 46902236 + Silent SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:46902236G>T ENST00000395869.1 - 3 288 c.237C>A c.(235-237)gtC>gtA p.V79V MYL3_ENST00000292327.4_Silent_p.V79V P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 79 EF-hand 1. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) GCGCCCGCAGGACATCCCCAC 0.607000 53 385 1.39843e-22 1.56526e-22 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41400107 41400107 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:41400107T>C ENST00000373198.3 - 5 887 c.652A>G c.(652-654)Aag>Gag p.K218E PTPRT_ENST00000373184.1_Missense_Mutation_p.K218E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K218E|PTPRT_ENST00000373187.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K218E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K218E NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 218 Ig-like C2-type. K -> T (in a gastric cancer). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGAGACCACTTCCCACCAGCA 0.483000 479 919 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72618261 72618261 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:72618261A>G ENST00000273951.8 - 11 1712 c.1369T>C c.(1369-1371)Tca>Cca p.S457P GC_ENST00000504199.1_Missense_Mutation_p.S476P|GC_ENST00000513476.1_Missense_Mutation_p.S457P|GC_ENST00000503472.1_5'UTR NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 457 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AGAGGAGGTGAGTTTATGGAA 0.438000 5 350 0 0 1 0 0 ERRFI1 54206 broad.mit.edu 37 1 8073413 8073413 + Nonsense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:8073413C>A ENST00000377482.5 - 4 1469 c.1246G>T c.(1246-1248)Gaa>Taa p.E416* ERRFI1_ENST00000474874.1_Intron NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 416 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CCATTTGTTTCTTCTGCTTCC 0.413000 9 721 5.4927e-09 5.89957e-09 1 1 0 CD5L 922 broad.mit.edu 37 1 157804321 157804321 + Silent SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:157804321T>C ENST00000368174.4 - 4 690 c.594A>G c.(592-594)cgA>cgG p.R198R NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 198 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGATGGGTTTTCGGCCATAGG 0.587000 27 262 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179297387 179297387 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:179297387G>A ENST00000356834.3 - 16 2630 c.2593C>T c.(2593-2595)Cgg>Tgg p.R865W TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R23W|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R41W|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R865W NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 865 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGAGTTCCCGGAACTGGCTG 0.647000 152 258 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62948259 62948259 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:62948259G>A ENST00000561311.1 + 7 864 c.634G>A c.(634-636)Gtg>Atg p.V212M TLN2_ENST00000306829.6_Missense_Mutation_p.V212M Q9Y4G6 TLN2_HUMAN talin 2 212 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GAGAGACCCCGTGCAGCTGAA 0.463000 36 288 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976197 131976197 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:131976197G>A ENST00000356920.5 + 1 316 c.222G>A c.(220-222)ggG>ggA p.G74G PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.G74G|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 74 ATP binding GCTGCAGGGGGAGTGGCAAGA 0.587000 44 870 0 0 1 0 0 RNF44 22838 broad.mit.edu 37 5 175956566 175956566 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:175956566G>A ENST00000274811.4 - 9 1618 c.1094C>T c.(1093-1095)tCg>tTg p.S365L RNF44_ENST00000537487.1_Missense_Mutation_p.S284L NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 365 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAGCGGTACGACGGGAGCTG 0.662000 30 230 0 0 1 0 0 TSPAN5 10098 broad.mit.edu 37 4 99399943 99399943 + Missense_Mutation SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:99399943A>T ENST00000305798.3 - 5 871 c.469T>A c.(469-471)Ttt>Att p.F157I TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.F86I NM_005723.3 NP_005714.2 P62079 TSN5_HUMAN tetraspanin 5 157 integral to membrane kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) TCAGCTCCAAAAGCCCCACAG 0.483000 14 174 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13883067 13883067 + Nonsense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:13883067G>T ENST00000265104.4 - 20 3224 c.3120C>A c.(3118-3120)tgC>tgA p.C1040* CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1040 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CACTGATGATGCACTCCACGG 0.532000 Kartagener syndrome 40 634 9.14704e-12 9.99283e-12 1 1 0 POTEH 23784 broad.mit.edu 37 22 16287662 16287662 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:16287662C>A ENST00000343518.6 - 1 275 c.224G>T c.(223-225)aGc>aTc p.S75I NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 75 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 GCTCTTGCCGCTCCCCCTGCA 0.582000 13 1329 0.000602214 0.000619698 1 1 0 RUVBL2 10856 broad.mit.edu 37 19 49513093 49513093 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:49513093G>A ENST00000413176.2 + 7 1536 c.388G>A c.(388-390)Ggc>Agc p.G130S RUVBL2_ENST00000601968.1_Missense_Mutation_p.G130S|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G175S Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 175 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CTACGACCTGGGCACCAAGAT 0.632000 6 567 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115143483 115143483 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:115143483G>A ENST00000393274.1 - 14 2539 c.1914C>T c.(1912-1914)cgC>cgT p.R638R DENND2C_ENST00000393277.1_Silent_p.R638R|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.R581R NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 638 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTGATGGTGCGTCCAGGAG 0.448000 14 423 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212498 62212498 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:62212498G>T ENST00000519846.1 + 3 584 c.112G>T c.(112-114)Gct>Tct p.A38S CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.A38S Q8IUQ0 CLVS1_HUMAN clavesin 1 38 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TATAGAGAAAGCTCGCCTGGA 0.438000 8 255 0.000274275 0.000284996 1 1 0 TMPRSS6 164656 broad.mit.edu 37 22 37485772 37485772 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:37485772C>A ENST00000381792.2 - 7 822 c.682G>T c.(682-684)Ggg>Tgg p.G228W TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G237W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G237W Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 237 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TGGTCAGGCCCCTTCAGCCGG 0.667000 4 92 0.150653 0.152084 1 1 0 NXF5 55998 broad.mit.edu 37 X 101091708 101091708 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:101091708G>T ENST00000361708.2 - 16 1537 c.1178C>A c.(1177-1179)cCa>cAa p.P393Q NXF5_ENST00000473265.2_Intron|NXF5_ENST00000537026.1_Intron Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 393 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 GCACTAACCTGGAATTGCGGC 0.522000 9 398 2.74318e-10 2.96635e-10 1 1 0 IL36G 56300 broad.mit.edu 37 2 113742500 113742500 + Silent SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:113742500C>A ENST00000259205.4 + 5 453 c.384C>A c.(382-384)tcC>tcA p.S128S IL36G_ENST00000376489.2_Silent_p.S93S NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 128 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GTAGGACCTCCACCCTTGAGT 0.517000 312 241 1.20034e-152 1.39239e-152 1 1 0 KLHL14 57565 broad.mit.edu 37 18 30349623 30349623 + Missense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr18:30349623T>A ENST00000359358.4 - 2 1370 c.932A>T c.(931-933)cAg>cTg p.Q311L KLHL14_ENST00000358095.4_Missense_Mutation_p.Q311L NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 311 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GGCCAGGCTCTGCCTGCAGTG 0.647000 23 232 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72317017 72317017 + Splice_Site SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:72317017C>T ENST00000340595.3 + 8 1385 c.1190_splice c.e8+1 p.R397_splice SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Splice_Site_p.R441_splice|SLC4A4_ENST00000425175.1_Splice_Site_p.R441_splice|SLC4A4_ENST00000351898.6_Splice_Site_p.R441_splice|SLC4A4_ENST00000512686.1_Splice_Site_p.R397_splice NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 441 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity p.R397W(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GCGAACTGGACGGTAACTGAC 0.438000 10 211 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5783697 5783697 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:5783697G>A ENST00000419421.2 - 3 665 c.561C>T c.(559-561)ccC>ccT p.P187P NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 185 Pro-rich. endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 TCTCCTTGGGGGGTGGGGGTG 0.701000 6 19 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4621608 4621608 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:4621608C>G ENST00000269260.2 + 9 907 c.674C>G c.(673-675)tCc>tGc p.S225C ARRB2_ENST00000381488.6_Missense_Mutation_p.S210C|ARRB2_ENST00000575877.1_Missense_Mutation_p.S225C|ARRB2_ENST00000571206.1_Missense_Mutation_p.S33C|ARRB2_ENST00000412477.3_Missense_Mutation_p.S246C|ARRB2_ENST00000574954.1_Missense_Mutation_p.S33C|ARRB2_ENST00000346341.2_Missense_Mutation_p.S210C|ARRB2_ENST00000572457.1_Missense_Mutation_p.S33C NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 225 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 ACCAACAACTCCACCAAGACC 0.537000 80 43 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81952666 81952666 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:81952666C>T ENST00000336735.4 - 17 1881 c.1765G>A c.(1765-1767)Gca>Aca p.A589T NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 589 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding p.A589T(1) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) TTGCTTTGTGCCACTTCATAG 0.428000 8 1295 0 0 1 0 0 MNS1 55329 broad.mit.edu 37 15 56735721 56735721 + Silent SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:56735721T>C ENST00000260453.3 - 7 1082 c.918A>G c.(916-918)ttA>ttG p.L306L TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron NM_018365.2 NP_060835.1 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 306 Glu-rich. meiosis breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 20 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) GCATTTCTTCTAATTTCTGTG 0.289000 19 261 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 5 295 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50071192 50071192 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:50071192T>C ENST00000371564.3 - 6 1961 c.1742A>G c.(1741-1743)gAa>gGa p.E581G NFATC2_ENST00000396009.3_Missense_Mutation_p.E581G|NFATC2_ENST00000414705.1_Missense_Mutation_p.E561G NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 581 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GTCTTGTCTTTCAACCATGGG 0.507000 95 912 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999078 143999078 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:143999078C>T ENST00000323110.2 - 1 181 c.179G>A c.(178-180)gGt>gAt p.G60D NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 60 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GTGCTCATAACCCTGCTCCCT 0.632000 Familial Hyperaldosteronism type I 30 285 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69933955 69933955 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr10:69933955G>A ENST00000358913.5 + 11 2594 c.2106G>A c.(2104-2106)gcG>gcA p.A702A MYPN_ENST00000540630.1_Silent_p.A702A|MYPN_ENST00000354393.2_Silent_p.A427A NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 702 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CTCCCCCAGCGGTGACAACAT 0.507000 7 400 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106811110 106811110 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:106811110T>C ENST00000407775.2 + 7 1148 c.898T>C c.(898-900)Ttc>Ctc p.F300L RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F31L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F168L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 300 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCTGTGCCCCTTCCCACAGTG 0.498000 10 760 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43624207 43624207 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:43624207G>A ENST00000264663.5 + 6 982 c.761G>A c.(760-762)cGa>cAa p.R254Q NNT_ENST00000512996.2_Missense_Mutation_p.R123Q|NNT_ENST00000344920.4_Missense_Mutation_p.R254Q NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 254 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) GCAATTGTTCGAGGATTTGAC 0.418000 89 2205 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161027656 161027656 + Missense_Mutation SNP G G C rs145350443 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:161027656G>C ENST00000447678.1 - 18 2758 c.2638C>G c.(2638-2640)Cct>Gct p.P880A LPA_ENST00000316300.5_Missense_Mutation_p.P880A NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3388 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCTGCCACAGGATCTGGATTC 0.542000 8 817 0 0 1 0 0 SNX10 29887 broad.mit.edu 37 7 26400616 26400616 + Nonsense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:26400616C>T ENST00000338523.4 + 3 233 c.46C>T c.(46-48)Cga>Tga p.R16* SNX10_ENST00000409367.1_5'UTR|SNX10_ENST00000396376.1_Nonsense_Mutation_p.R16*|SNX10_ENST00000446848.2_Nonsense_Mutation_p.R42* NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 16 PX. cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 TGTCTGGGTTCGAGATCCTAG 0.368000 133 357 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 57057995 57057995 + Missense_Mutation SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:57057995G>C ENST00000308249.2 + 7 2000 c.1871G>C c.(1870-1872)gGa>gCa p.G624A NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 633 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) AGTGGTGCTGGAGAGTTTCCC 0.423000 5 573 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117232055 117232055 + Missense_Mutation SNP A A G rs121908777 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:117232055A>G ENST00000003084.6 + 14 1966 c.1834A>G c.(1834-1836)Aaa>Gaa p.K612E CFTR_ENST00000454343.1_Missense_Mutation_p.K551E NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 612 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACATTTAAAGAAAGCTGACAA 0.303000 Cystic Fibrosis 5 387 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692132 31692132 + Silent SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr21:31692132G>T ENST00000360542.3 - 1 475 c.222C>A c.(220-222)ggC>ggA p.G74G NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 74 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TTTCAAGATTGCCGGTCTCAC 0.542000 11 485 5.50884e-06 5.79973e-06 1 1 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 5 344 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 7 794 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 155937 155937 + RNA SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:155937T>C ENST00000510175.1 + 0 1372 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TGGGAGCCTTTAAGTCTTCCT 0.363000 9 58 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166201075 166201075 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:166201075T>C ENST00000375437.2 + 16 2863 c.2573T>C c.(2572-2574)tTc>tCc p.F858S SCN2A_ENST00000283256.6_Missense_Mutation_p.F858S|SCN2A_ENST00000357398.3_Missense_Mutation_p.F858S|SCN2A_ENST00000375427.2_Missense_Mutation_p.F858S NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 858 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CTCCGAGTTTTCAAGTTGGCA 0.328000 35 219 0 0 1 0 0 LILRB4 0 broad.mit.edu 37 19 55175822 55175822 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:55175822C>T ENST00000391736.1 + 6 856 c.541C>T c.(541-543)Ccc>Tcc p.P181S LILRB4_ENST00000430952.2_Missense_Mutation_p.P181S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P181S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P181S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P181S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 181 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGCTGAATTCCCCATGAGTCC 0.597000 136 217 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67066340 67066340 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:67066340C>A ENST00000315962.4 + 9 1668 c.1295C>A c.(1294-1296)gCa>gAa p.A432E TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.A432E|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 432 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CCAGTCCCTGCAGCAGCAGAA 0.493000 6 236 8.12818e-05 8.4735e-05 1 1 0 C20orf26 26074 broad.mit.edu 37 20 20278839 20278839 + Silent SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:20278839A>G ENST00000245957.5 + 25 3307 c.3231A>G c.(3229-3231)gtA>gtG p.V1077V C20orf26_ENST00000377309.2_3'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 1077 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TAGAACTAGTAACCGGCAGTG 0.403000 23 379 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604452 160604452 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:160604452G>T ENST00000302035.6 - 3 1000 c.651C>A c.(649-651)aaC>aaA p.N217K SLAMF1_ENST00000235739.5_Missense_Mutation_p.N217K|SLAMF1_ENST00000538290.1_Missense_Mutation_p.N217K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.N217K NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 217 Ig-like C2-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCTGGGAATTGTTGCTGATAG 0.592000 8 284 0.00448238 0.00459768 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38120694 38120694 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:38120694C>G ENST00000406386.3 + 7 2386 c.2131C>G c.(2131-2133)Cct>Gct p.P711A RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 711 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGCCTCCTCTCCTAACAGAAC 0.582000 7 515 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 6 37 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 156963025 156963025 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:156963025C>G ENST00000348165.5 + 4 583 c.223C>G c.(223-225)Cgc>Ggc p.R75G UBE3C_ENST00000389103.4_Missense_Mutation_p.R32G NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 75 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TGCATTTGATCGCTGTGCTAC 0.388000 461 392 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128721077 128721077 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:128721077C>T ENST00000371113.4 + 20 2403 c.2238C>T c.(2236-2238)ttC>ttT p.F746F OCRL_ENST00000357121.5_Silent_p.F738F NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 746 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 ATCACCTATTCAAATACGCCT 0.468000 8 509 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2195869 2195869 + Silent SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:2195869A>G ENST00000544865.1 - 6 2731 c.2221T>C c.(2221-2223)Ttg>Ctg p.L741L SMG6_ENST00000263073.5_Silent_p.L772L Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 772 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGCAAAGCCAACTGGTTATAG 0.438000 8 785 0 0 1 0 0 PRPF38B 55119 broad.mit.edu 37 1 109242415 109242415 + Silent SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:109242415C>A ENST00000370021.1 + 7 1718 c.1081C>A c.(1081-1083)Cga>Aga p.R361R PRPF38B_ENST00000370025.4_Silent_p.R472R Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 472 Arg-rich. mRNA processing|RNA splicing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TAAACGAAGTCGAAGTGGCAG 0.353000 42 432 3.54561e-26 4.02508e-26 1 1 0 CCDC146 57639 broad.mit.edu 37 7 76885756 76885756 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:76885756C>G ENST00000285871.4 + 6 741 c.614C>G c.(613-615)tCt>tGt p.S205C AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 205 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GATTTGGCATCTAAACAAAAG 0.318000 6 268 0 0 1 0 0 NKG7 4818 broad.mit.edu 37 19 51875040 51875040 + Missense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:51875040T>A ENST00000221978.5 - 4 668 c.489A>T c.(487-489)gaA>gaT p.E163D NKG7_ENST00000595217.1_3'UTR|NKG7_ENST00000600427.1_Missense_Mutation_p.E83D NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 163 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTCACAAGGTTTCATAGCCAG 0.582000 87 1095 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37725121 37725121 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:37725121G>A ENST00000265107.4 + 16 1839 c.1683G>A c.(1681-1683)tcG>tcA p.S561S NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 561 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCTGAAGTCGCATAAACCTG 0.527000 7 676 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 5 761 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3101038 3101038 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:3101038G>A ENST00000381951.1 + 1 226 c.226G>A c.(226-228)Gta>Ata p.V76I NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V76I(1) breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CTTCTCATCCGTAACCATCCC 0.488000 8 780 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141298554 141298554 + Missense_Mutation SNP T T G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:141298554T>G ENST00000389484.3 - 45 8472 c.7501A>C c.(7501-7503)Aac>Cac p.N2501H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2501 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACACATCTGTTGTCCTCTAGC 0.398000 TSP Lung(27;0.18) 42 346 0 0 1 0 0 SHISA3 152573 broad.mit.edu 37 4 42403193 42403193 + Missense_Mutation SNP A A C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:42403193A>C ENST00000319234.4 + 2 660 c.442A>C c.(442-444)Atg>Ctg p.M148L NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 148 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 GACCCTGCCCATGATCCTGAC 0.607000 8 1331 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72228134 72228134 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr18:72228134C>A ENST00000582365.1 + 3 284 c.218C>A c.(217-219)gCc>gAc p.A73D CNDP1_ENST00000358821.3_Missense_Mutation_p.A116D|CNDP1_ENST00000585136.1_Intron Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 116 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) ATCATCCTGGCCGAACTGGGG 0.547000 9 545 2.80697e-09 3.02508e-09 1 1 0 ITCH 83737 broad.mit.edu 37 20 33045269 33045269 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:33045269A>G ENST00000374864.4 + 13 1498 c.1285A>G c.(1285-1287)Aga>Gga p.R429G ITCH_ENST00000262650.6_Missense_Mutation_p.R470G|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.R319G NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 470 Required for interaction with FYN. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GGAAGACCCCAGAAGTCAAGG 0.388000 10 207 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 14 198 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152330000 152330000 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:152330000C>T ENST00000388718.5 - 3 334 c.262G>A c.(262-264)Gtc>Atc p.V88I FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 88 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGCTGAGGACCTTGTTGCAG 0.438000 93 77 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124753 12124753 + Silent SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:12124753T>C ENST00000379388.2 + 4 5057 c.4725T>C c.(4723-4725)tcT>tcC p.S1575S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1575 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CTTGCTCTTCTAATCCTGTGC 0.383000 31 483 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3721480 3721480 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:3721480C>T ENST00000254963.2 + 3 207 c.62C>T c.(61-63)tCc>tTc p.S21F HSPA12B_ENST00000542646.1_Intron NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 21 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 CCGGAGCGGTCCCCAGTGCCT 0.662000 13 115 0 0 1 0 0 SIGIRR 59307 broad.mit.edu 37 11 408737 408737 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:408737G>A ENST00000431843.2 - 3 470 c.164C>T c.(163-165)cCa>cTa p.P55L SIGIRR_ENST00000382520.2_Missense_Mutation_p.P55L|SIGIRR_ENST00000332725.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000397632.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P55L|SIGIRR_ENST00000529486.1_Intron NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 55 Ig-like C2-type. acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AATTCCCAATGGAAGCCCGTC 0.607000 220 703 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234788 21234788 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:21234788C>T ENST00000233242.1 - 26 5079 c.4952G>A c.(4951-4953)gGa>gAa p.G1651E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1651 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTAGATATTCCATCTTGGCC 0.448000 9 217 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178257339 178257339 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:178257339G>T ENST00000264596.3 + 4 609 c.491G>T c.(490-492)aGa>aTa p.R164I NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 164 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) AGTTTCTTGAGAGCAGAAAGT 0.358000 Base excision repair (BER), DNA glycosylases 7 277 0.27861 0.27861 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 5 80 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50406795 50406795 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:50406795G>T ENST00000217086.4 - 2 2338 c.2227C>A c.(2227-2229)Ctg>Atg p.L743M SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 743 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGCGCTGCAGGTTAAAAGGG 0.587000 6 249 0.0215528 0.0220363 1 1 0 ACVR1C 130399 broad.mit.edu 37 2 158397669 158397669 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:158397669G>T ENST00000243349.7 - 7 1518 c.1158C>A c.(1156-1158)ttC>ttA p.F386L ACVR1C_ENST00000348328.5_Missense_Mutation_p.F229L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.F336L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.F306L NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 386 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CAGCTCGTTTGAAGGACTCAA 0.378000 19 435 1.40151e-16 1.54166e-16 1 1 0 DMBX1 127343 broad.mit.edu 37 1 46977796 46977796 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:46977796C>A ENST00000371956.4 + 4 794 c.779C>A c.(778-780)cCg>cAg p.P260Q DMBX1_ENST00000360032.3_Missense_Mutation_p.P255Q NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 260 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) TCCTCGTCCCCGCTGAGCCTC 0.642000 8 653 5.18039e-06 5.49018e-06 1 1 0 CLEC12B 387837 broad.mit.edu 37 12 10167245 10167245 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:10167245A>G ENST00000396502.1 + 3 442 c.314A>G c.(313-315)gAg>gGg p.E105G CLEC12B_ENST00000338896.5_Missense_Mutation_p.E105G NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 105 integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 TTGTCCATGGAGGAGGAATTT 0.433000 31 176 0 0 1 0 0 TOR4A 54863 broad.mit.edu 37 9 140173477 140173477 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:140173477C>T ENST00000357503.2 + 2 532 c.336C>T c.(334-336)cgC>cgT p.R112R NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 112 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity ATCGGCCGCGCGTGGAGCACA 0.667000 4 52 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 7 311 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226175604 226175604 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:226175604C>T ENST00000272091.7 - 6 1145 c.1127G>A c.(1126-1128)gGa>gAa p.G376E SDE2_ENST00000366817.1_Missense_Mutation_p.G281E NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) TACTGCGTTTCCTGGCTGGCT 0.443000 27 265 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148457556 148457556 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:148457556C>G ENST00000325222.4 + 7 1036 c.757C>G c.(757-759)Cag>Gag p.Q253E CUL1_ENST00000602748.1_Missense_Mutation_p.Q253E|CUL1_ENST00000409469.1_Missense_Mutation_p.Q253E NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 253 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGAATTCTTGCAGCAGAACCC 0.343000 7 1273 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 183 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5923907 5923907 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:5923907C>T ENST00000340578.6 - 12 1072 c.1015G>A c.(1015-1017)Gag>Aag p.E339K RANBP3_ENST00000541471.1_Missense_Mutation_p.E211K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E271K|RANBP3_ENST00000439268.2_Missense_Mutation_p.E334K|RANBP3_ENST00000591092.1_Missense_Mutation_p.E266K NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 339 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 GAACTGACCTCGTTTAATTTT 0.562000 36 230 0 0 1 0 0 ABHD3 171586 broad.mit.edu 37 18 19283559 19283559 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr18:19283559C>T ENST00000289119.2 - 2 451 c.312G>A c.(310-312)ccG>ccA p.P104P ABHD3_ENST00000580981.1_Silent_p.P104P|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR NM_138340.4 NP_612213.2 Q8WU67 ABHD3_HUMAN abhydrolase domain containing 3 104 integral to membrane carboxylesterase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2) 10 TGTACTGCACCGGGGGCTTCG 0.483000 229 186 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4735395 4735395 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:4735395C>T ENST00000354582.6 + 33 4601 c.4251C>T c.(4249-4251)cgC>cgT p.R1417R ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.R1393R|ITPR1_ENST00000443694.2_Silent_p.R1402R|ITPR1_ENST00000423119.2_Silent_p.R1408R|ITPR1_ENST00000357086.4_Silent_p.R1408R|ITPR1_ENST00000302640.8_Silent_p.R1402R Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1417 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) ACATCGTTCGCGTGGTGACCC 0.592000 10 81 0 0 1 0 0 TIGD5 84948 broad.mit.edu 37 8 144681772 144681772 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:144681772G>A ENST00000504548.2 + 1 1699 c.1699G>A c.(1699-1701)Gcc>Acc p.A567T TIGD5_ENST00000321385.3_Missense_Mutation_p.A518T NM_032862.4 NP_116251.4 E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 567 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TCTGCCCTCTGCCATGGGGGG 0.726000 16 30 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 10 223 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111618120 111618120 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:111618120G>A ENST00000374667.3 - 1 1119 c.91C>T c.(91-93)Cgg>Tgg p.R31W NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 31 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCTGTGTCCCGGAGGCTGGCG 0.652000 6 343 0 0 1 0 0 ARL17A 51326 broad.mit.edu 37 17 44594556 44594556 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:44594556G>A ENST00000337845.7 - 5 707 c.569C>T c.(568-570)gCg>gTg p.A190V LRRC37A2_ENST00000333412.3_Intron|LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000445552.2_Silent_p.C101C|ARL17A_ENST00000329240.4_Silent_p.C101C Q8IVW1 ARL17_HUMAN ADP-ribosylation factor-like 17A 0 protein transport|vesicle-mediated transport Golgi apparatus GTP binding lung(1) 1 CGGTGACCCCGCATAATTTCT 0.413000 7 774 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189622 11189622 + Missense_Mutation SNP T T A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:11189622T>A ENST00000382435.4 + 1 1226 c.1007T>A c.(1006-1008)gTg>gAg p.V336E NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 336 integral to membrane ACAGGGAAGGTGGAGGAGTGA 0.483000 76 194 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612452 20612452 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:20612452G>A ENST00000333629.1 + 1 558 c.558G>A c.(556-558)aaG>aaA p.K186K NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AGGTCATCAAGCTGGCCTGCA 0.522000 252 168 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104245101 104245101 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:104245101T>C ENST00000202556.9 - 4 617 c.335A>G c.(334-336)gAa>gGa p.E112G NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 112 E -> D (in Ref. 1; CAC83011). apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) AGTACGTTTTTCTCCAGGTAC 0.388000 37 298 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81111297 81111297 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr10:81111297C>T ENST00000225174.3 + 4 441 c.370C>T c.(370-372)Cgc>Tgc p.R124C PPIF_ENST00000394579.3_Missense_Mutation_p.R124C NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 124 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) CTACGGAAGCCGCTTTCCTGA 0.607000 54 92 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25232196 25232196 + Missense_Mutation SNP G G A rs143325687 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:25232196G>A ENST00000354454.3 + 6 872 c.43G>A c.(43-45)Gtg>Atg p.V15M LRMP_ENST00000548766.1_Missense_Mutation_p.V15M|LRMP_ENST00000547044.1_Missense_Mutation_p.V15M NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 71 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TGTTGAACGCGTGTGTCCTGA 0.373000 48 398 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158449944 158449944 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:158449944T>C ENST00000368152.1 + 1 277 c.277T>C c.(277-279)Tac>Cac p.Y93H RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TGAGACCTTCTACACCTTTGT 0.438000 69 608 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085442 9085442 + Missense_Mutation SNP C C A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:9085442C>A ENST00000397910.4 - 1 6576 c.6373G>T c.(6373-6375)Gca>Tca p.A2125S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2125 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCGAGGATGCATCAGTGTTC 0.488000 193 377 4.54062e-68 5.24804e-68 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 7 42 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100169875 100169875 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr13:100169875T>C ENST00000376387.4 + 2 369 c.179T>C c.(178-180)aTa>aCa p.I60T TM9SF2_ENST00000463709.1_3'UTR NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 60 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CAGGCCGAAATAGAACTATTT 0.313000 5 284 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63915945 63915945 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:63915945G>A ENST00000443617.2 - 73 13677 c.13590C>T c.(13588-13590)gaC>gaT p.D4530D NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4530 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGTGATGGTGTCATCAAACA 0.512000 9 747 0 0 1 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617958 111617958 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:111617958C>T ENST00000374667.3 - 1 1281 c.253G>A c.(253-255)Gag>Aag p.E85K NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 85 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TCGGCCGCCTCGGGGCAGCGT 0.652000 52 333 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15603621 15603621 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:15603621C>T ENST00000427411.1 - 8 1093 c.877G>A c.(877-879)Gtt>Att p.V293I ACE2_ENST00000252519.3_Missense_Mutation_p.V293I NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 293 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) GCATCAGTAACATCTATGTTT 0.323000 29 604 0 0 1 0 0 HSP90AB2P 0 broad.mit.edu 37 4 13339134 13339134 + RNA SNP G G C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:13339134G>C ENST00000602906.1 + 0 862 kidney(3)|lung(1) 4 TCATCTTTTTGAGAACAAGAA 0.428000 26 310 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346935 29346935 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:29346935C>T ENST00000558402.1 + 5 1447 c.848C>T c.(847-849)tCg>tTg p.S283L APBA2_ENST00000561069.1_Missense_Mutation_p.S283L|APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 283 nervous system development|protein transport protein binding p.S283L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGGCCCAAGTCGCTGAACCTC 0.672000 13 72 0 0 1 0 0 RGPD1 400966 broad.mit.edu 37 2 87140987 87140987 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:87140987G>A ENST00000398193.3 + 1 53 c.15G>A c.(13-15)aaG>aaA p.K5K RGPD1_ENST00000409776.2_Intron Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 1 0 intracellular transport binding breast(1)|endometrium(1)|lung(1) 3 GGCGCAGCAAGGCCTACGGGG 0.672000 4 104 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68436828 68436828 + Missense_Mutation SNP G G T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:68436828G>T ENST00000265404.2 + 2 229 c.147G>T c.(145-147)ttG>ttT p.L49F STAP1_ENST00000396225.1_Missense_Mutation_p.L49F NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 49 PH. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 GGACAGAGTTGAGAGGAACTA 0.308000 65 805 3.37205e-40 3.86937e-40 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102303120 102303120 + RNA SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:102303120C>G ENST00000561463.1 + 0 11166 CTTCTCAGAGCTGCTGTCCAA 0.592000 6 207 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465248 37465248 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:37465248C>T ENST00000381792.2 - 16 2118 c.1978G>A c.(1978-1980)Gtg>Atg p.V660M TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.V669M Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 669 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 AGCAGCGCCACGTCGTAGTCA 0.692000 18 60 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951720 130951720 + Missense_Mutation SNP C C G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:130951720C>G ENST00000312988.7 - 4 795 c.695G>C c.(694-696)gGg>gCg p.G232A NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 232 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) CACGATCTGCCCAATCAGGCG 0.557000 17 730 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144075960 144075960 + Splice_Site SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:144075960G>A ENST00000056217.5 + 14 4810 c.e14+1 ARHGEF5_ENST00000471847.2_Splice_Site NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AGCAGTGACGGTAAGCGGGAG 0.587000 7 622 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107866732 107866732 + Missense_Mutation SNP T T C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:107866732T>C ENST00000379028.3 - 9 1111 c.641A>G c.(640-642)gAa>gGa p.E214G NRCAM_ENST00000351718.4_Missense_Mutation_p.E208G|NRCAM_ENST00000413765.2_Missense_Mutation_p.E214G|NRCAM_ENST00000379022.4_Missense_Mutation_p.E214G|NRCAM_ENST00000379024.4_Missense_Mutation_p.E214G|NRCAM_ENST00000425651.2_Missense_Mutation_p.E214G Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 214 Ig-like 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GATATAGTCTTCGCGGGTGTC 0.418000 65 456 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703434 18703434 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:18703434C>T ENST00000251296.1 + 8 1625 c.1242C>T c.(1240-1242)acC>acT p.T414T NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 414 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ATCGCTGCACCGCCCAGAACC 0.657000 13 206 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172584337 172584337 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:172584337G>A ENST00000534253.2 + 12 1171 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V329M|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V327M|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.V335M|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V327M|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V329M|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V309M Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 335 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) GCAGTCAGCTGTGATGTCTGC 0.338000 67 71 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16040288 16040288 + Missense_Mutation SNP G G A rs138578304 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:16040288G>A ENST00000326742.7 - 2 323 c.322C>T c.(322-324)Cgg>Tgg p.R108W CYP4F11_ENST00000402119.3_Missense_Mutation_p.R108W|CYP4F11_ENST00000248041.7_Missense_Mutation_p.R108W Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 108 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GTGATAGGCCGGATAATGTCA 0.557000 6 684 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33089124 33089124 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:33089124G>A ENST00000306065.4 - 29 3238 c.3080C>T c.(3079-3081)gCg>gTg p.A1027V NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 1027 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity p.A1027V(1) breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GGACACGACCGCATCCTCTAC 0.617000 6 757 0 0 1 0 0 CTAG2 30848 broad.mit.edu 37 X 153880703 153880703 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:153880703C>T ENST00000247306.4 - 2 535 c.472G>A c.(472-474)Gcc>Acc p.A158T CTAG2_ENST00000369585.3_Intron NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 158 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCGGGGAGGCGGATCCCAGC 0.627000 50 574 0 0 1 0 0 CCDC64B 146439 broad.mit.edu 37 16 3079353 3079353 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:3079353C>T ENST00000573514.1 - 5 2604 c.414G>A c.(412-414)aaG>aaA p.K138K CCDC64B_ENST00000389347.4_Silent_p.K345K|CCDC64B_ENST00000572449.1_Silent_p.K345K A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 345 breast(1)|endometrium(2)|large_intestine(1) 4 ATGTTCGCTTCTTGGGGGGCT 0.607000 4 67 0 0 1 0 0 RRP8 23378 broad.mit.edu 37 11 6622651 6622651 + Silent SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:6622651G>A ENST00000254605.6 - 3 762 c.645C>T c.(643-645)gcC>gcT p.A215A RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 215 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 TCTCTGTGGGGGCCTCAGCTG 0.602000 19 194 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 330 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110146342 110146342 + Silent SNP A A C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:110146342A>C ENST00000230124.3 + 23 2722 c.2598A>C c.(2596-2598)ccA>ccC p.P866P FIG4_ENST00000441478.2_Silent_p.P560P NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 866 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TTCAGCCCCCAAGAGTAGACA 0.448000 64 563 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79351673 79351673 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:79351673G>A ENST00000350881.2 + 3 548 c.358G>A c.(358-360)Gca>Aca p.A120T CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A29T NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 120 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CCTGCAGCTGGCAGACGGAAG 0.562000 5 546 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14150430 14150430 + Missense_Mutation SNP C C A rs145198960 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:14150430C>A ENST00000263379.2 + 3 454 c.329C>A c.(328-330)gCa>gAa p.A110E NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 110 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 GGCACTAAGGCAGGCCAGCCT 0.617000 41 313 5.20837e-25 5.89174e-25 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59519753 59519753 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:59519753C>T ENST00000288235.4 - 7 946 c.547G>A c.(547-549)Gaa>Aaa p.E183K MYO1E_ENST00000558814.1_5'UTR NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 183 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CCATCTGGTTCCCCACCTGGA 0.438000 40 446 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698770 49698770 + Silent SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:49698770C>T ENST00000296452.4 + 6 9606 c.9492C>T c.(9490-9492)atC>atT p.I3164I NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3164 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATGAGGTGATCGCCAGCCCCG 0.607000 8 241 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126164112 126164112 + Missense_Mutation SNP C C T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:126164112C>T ENST00000373620.3 - 21 1877 c.1657G>A c.(1657-1659)Ggc>Agc p.G553S DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.G523S NM_024820.2 NP_079096.2 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 0 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GAGGTCCAGCCTCTCGTCGGG 0.498000 OREG0019470 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 353 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 9 105 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 535 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 13 50 --- --- --- --- CENPF 1063 broad.mit.edu 37 1 214818826 214818826 + Frame_Shift_Del DEL A A - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr1:214818826delA ENST00000366955.3 + 13 6081 c.5913delA c.(5911-5913)tcfs p.S1971fs NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2067 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATACTATGTCAAAAAAAACCA 0.408 7 293 --- --- --- --- EHBP1 23301 broad.mit.edu 37 2 63206352 63206353 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr2:63206352_63206353delGA ENST00000263991.5 + 16 3077_3078 c.2595_2596delGA c.(2593-2598)ctgafs p.LR865fs EHBP1_ENST00000354487.3_Frame_Shift_Del_p.LR830fs|EHBP1_ENST00000431489.1_Frame_Shift_Del_p.LR830fs|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Frame_Shift_Del_p.LR830fs|EHBP1_ENST00000405015.3_Frame_Shift_Del_p.LR830fs NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 865 cytoplasm|membrane p.R868fs*22(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GTCGGCAGCTGAGAGAGAGAGC 0.426 8 307 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|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) TCTGCAGGCCTTTTTCCCTGG 0.463 10 621 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 8 735 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125647339 125647339 + RNA DEL C C - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr3:125647339delC ENST00000485843.1 + 0 484 NR_024251.1 TGTTTCCAGGCCAGGCCAGGA 0.557 9 375 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 9 79 --- --- --- --- FGFBP1 9982 broad.mit.edu 37 4 15938178 15938178 + Frame_Shift_Del DEL T T - rs144178676 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:15938178delT ENST00000382333.1 - 3 372 c.78delA c.(76-78)aafs p.K26fs FGFBP1_ENST00000259988.2_Frame_Shift_Del_p.K26fs NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 26 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 CATTCTTCACTTTTTTTTTCC 0.527 15 681 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57182265 57182267 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:57182265_57182267delAGA ENST00000504228.1 + 6 2702_2704 c.2597_2599delAGA c.(2596-2601)cag>c p.QK866del KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del Q6ZU35 K1211_HUMAN KIAA1211 866 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CAGGCAGAACAGAAGAAGAAGAA 0.567 8 394 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 7 159 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 10 378 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 9 602 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129924994 129924995 + Frame_Shift_Ins INS - - T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr4:129924994_129924995insT ENST00000281142.5 - 6 830_831 c.327_328insA c.(325-330)aatggafs p.NG109fs SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 109 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 AAGGCCTCCAATTTTTTTTCAA 0.381 7 397 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 12 483 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 10 534 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 8 394 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 12 277 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 9 524 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 8 407 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 9 430 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 8 559 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24904971 24904971 + Frame_Shift_Del DEL T T - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:24904971delT ENST00000313367.2 - 7 1114 c.663delA c.(661-663)aafs p.K221fs OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K221fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 221 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 CTTTGGAGCATTTTTCCATGT 0.393 9 2087 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284914 38284917 + RNA DEL CTGA CTGA - rs147429736 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:38284914_38284917delCTGA ENST00000436911.2 - 0 330 gtgtgtgtgtctgagtgtgtctgt 0.392 12 215 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 14 104 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 gcagcagcaacagcagcagcagc 0.507 8 296 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 12 55 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 7 459 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 100990177 100990178 + Frame_Shift_Ins INS - - T rs7841915 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:100990177_100990178insT ENST00000360863.6 - 23 3680_3681 c.3486_3487insA c.(3484-3489)aatggcfs p.NG1162fs RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1162 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGGACTGCCAATTTTTTTTTCT 0.312 10 346 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 373 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560102 35560104 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:35560102_35560104delGCT ENST00000455600.1 + 10 4034_4036 c.3465_3467delGCT c.(3463-3468)gag>ga p.EL1155del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1155 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TCTTTGAAGAGCTGCTGCTGCTG 0.616 8 788 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 7 87 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 8 567 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 262 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 592586 592588 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:592586_592588delGAG ENST00000264555.5 + 6 660_662 c.532_534delGAG c.(532-534)del p.E181del PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 181 Poly-Glu. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CAAAGCGAGCGAGGAGGAGGAGG 0.616 9 877 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 23 638 --- --- --- --- LRRC32 2615 broad.mit.edu 37 11 76372197 76372198 + Frame_Shift_Ins INS - - C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:76372197_76372198insC ENST00000407242.2 - 3 681_682 c.439_440insG c.(439-441)ggcfs p.G147fs AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.G147fs|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.G147fs NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 147 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GCTGGGTGCCTCCCCCAGCAGC 0.678 7 204 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:89405323_89405326delTTTA ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aattatattgtttatttatttttg 0.230 7 6 --- --- --- --- MMP13 4322 broad.mit.edu 37 11 102818723 102818723 + Frame_Shift_Del DEL T T - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:102818723delT ENST00000260302.3 - 8 1136 c.1108delA c.(1108-1110)tafs p.I370fs MMP13_ENST00000340273.4_Frame_Shift_Del_p.I370fs NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 370 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AGTTCAGATATTTTTTTGGGA 0.388 7 810 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 10 295 --- --- --- --- SIDT2 51092 broad.mit.edu 37 11 117064645 117064647 + In_Frame_Del DEL TCT TCT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:117064645_117064647delTCT ENST00000324225.4 + 24 2819_2821 c.2288_2290delTCT c.(2287-2292)ctc>c p.LF763del SIDT2_ENST00000431081.2_In_Frame_Del_p.LF760del|SIDT2_ENST00000532062.1_In_Frame_Del_p.LF55del NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 763 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GGCTTCGCGCTCTTCTTCTTCTT 0.601 9 319 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 14 756 --- --- --- --- TAS2R50 259296 broad.mit.edu 37 12 11139432 11139432 + Frame_Shift_Del DEL A A - rs79147066 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:11139432delA ENST00000506868.1 - 1 79 c.28delT c.(28-30)cafs p.S10fs TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 10 sensory perception of taste integral to membrane G-protein coupled receptor activity p.S10fs*3(2)|p.S10fs*25(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 ATTAGAATTGAAAAAAAAATG 0.318 7 268 --- --- --- --- C12orf40 283461 broad.mit.edu 37 12 40076540 40076540 + Frame_Shift_Del DEL A A - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:40076540delA ENST00000324616.5 + 8 968 c.814delA c.(814-816)aafs p.K272fs C12orf40_ENST00000405531.3_Frame_Shift_Del_p.K272fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.K195fs NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 272 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TATTTGGGGGAAAAATGGAAA 0.353 7 793 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 798 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 11 688 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 692 --- --- --- --- IGHV4OR15-8 0 broad.mit.edu 37 15 22473268 22473268 + RNA DEL G G - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:22473268delG ENST00000557788.2 - 0 46 ATCAGAGGCAGCCTCCCCTAT 0.582 15 353 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 9 620 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 9 160 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 17 19 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 11 2761 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 9 782 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 7 253 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:72821594_72821596delGCC ENST00000268489.5 - 10 11251_11253 c.10579_10581delGGC c.(10579-10581)del p.G3527del ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3527 Poly-Gly. G -> GGG. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTGGTACGAgccgccgccgccg 0.690 14 358 --- --- --- --- RP11-150D5.2 0 broad.mit.edu 37 16 76268905 76268905 + RNA DEL T T - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:76268905delT ENST00000568714.1 - 0 135 ttttcttttctttttttttGC 0.418 8 185 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr16:85682290delC ENST00000253458.7 + 3 535 c.359delC c.(358-360)acfs p.T120fs GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) GTGCCCAGCACCCCCCCCGTG 0.687 7 409 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 13 659 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 7 147 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 7 496 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 7 253 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 12 976 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39340485 39340497 + Frame_Shift_Del DEL CCGCCGCCCGCCG CCGCCGCCCGCCG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:39340485_39340497delCCGCCGCCCGCCG ENST00000221419.5 - 1 476_488 c.110_122delCGGCGGGCGGCGG c.(109-123)gafs p.AAGGG37fs HNRNPL_ENST00000600873.1_Intron NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 37 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) accgccgcctccgccgcccgccgccgccATCTT 0.765 7 36 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 9 121 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753026 42753027 + Frame_Shift_Ins INS - - C TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:42753026_42753027insC ENST00000222329.4 - 4 1394_1395 c.1237_1238insG c.(1237-1239)aggfs p.R413fs ERF_ENST00000440177.2_Frame_Shift_Ins_p.R338fs|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 413 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) TAGCGCCCCTGCCCCCTCAGCC 0.698 13 527 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 11 488 --- --- --- --- C20orf26 26074 broad.mit.edu 37 20 20243740 20243746 + Frame_Shift_Del DEL GATTTGG GATTTGG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:20243740_20243746delGATTTGG ENST00000245957.5 + 21 2545_2551 c.2469_2475delGATTTGG c.(2467-2475)ctfs p.LIW823fs C20orf26_ENST00000389656.3_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377293.1_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377309.2_Frame_Shift_Del_p.LIW179fs|RP5-1096J16.1_ENST00000460400.1_RNA NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 823 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TTAAGGCACTGATTTGGATAAGGAATA 0.440 13 819 --- --- --- --- NCOA3 8202 broad.mit.edu 37 20 46279864 46279866 + In_Frame_Del DEL CAA CAA - rs112129664 byFrequency TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:46279864_46279866delCAA ENST00000372004.3 + 20 3994_3996 c.3778_3780delCAA c.(3778-3780)del p.Q1272del NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1276 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 gcagcagcagcaacagcaacagc 0.567 8 283 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 812 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 9 3 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 153 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 9 204 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 11 533 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 12 749 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 14 698 --- --- --- --- ZBTB33 10009 broad.mit.edu 37 X 119388276 119388278 + In_Frame_Del DEL GAT GAT - TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 662cdf99-f06e-4888-a37b-0ac40290812e 9004caef-8e7c-48c3-935f-b42764af6613 g.chrX:119388276_119388278delGAT ENST00000326624.2 + 2 1234_1236 c.1006_1008delGAT c.(1006-1008)del p.D340del ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 340 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGAAATAATAGATGATGATGATG 0.433 9 468 --- --- --- ---