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 CD1E 913 broad.mit.edu 37 1 158326366 158326366 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:158326366G>A ENST00000444681.2 + 4 979 c.686G>A c.(685-687)cGg>cAg p.R229Q CD1E_ENST00000368157.1_Missense_Mutation_p.R84Q|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R273Q|CD1E_ENST00000368156.1_Missense_Mutation_p.R238Q|CD1E_ENST00000368166.3_Missense_Mutation_p.R139Q|CD1E_ENST00000368167.3_Missense_Mutation_p.R328Q|CD1E_ENST00000368165.3_Missense_Mutation_p.R238Q|CD1E_ENST00000368155.3_Missense_Mutation_p.R183Q|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000452291.2_Missense_Mutation_p.R139Q|CD1E_ENST00000368160.3_Missense_Mutation_p.R328Q|CD1E_ENST00000368154.1_Missense_Mutation_p.R84Q NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 328 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GTTGACTCACGGTTAAAAAAA 0.368000 6 22 0 0 0.001168 0 0 ZNF292 23036 broad.mit.edu 37 6 87965604 87965604 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:87965604A>G ENST00000369577.3 + 8 2300 c.2257A>G c.(2257-2259)Ata>Gta p.I753V ZNF292_ENST00000339907.4_Missense_Mutation_p.I748V NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 753 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ATATATCTGTATACAGATGAA 0.378000 8 20 0 0 0.003080 0 0 RNF17 56163 broad.mit.edu 37 13 25433215 25433215 + Nonsense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:25433215G>A ENST00000255324.5 + 26 3739 c.3687G>A c.(3685-3687)tgG>tgA p.W1229* RNF17_ENST00000381921.1_Nonsense_Mutation_p.W1229*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.W281* NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1229 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTTATTTCTGGAAAAAAGGAG 0.373000 6 32 0 0 0.001168 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999035 27999035 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:27999035C>T ENST00000441525.1 - 1 531 c.417G>A c.(415-417)ttG>ttA p.L139L NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 139 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TCCACTCCTCCAACGCCTGAT 0.577000 8 7 0 0 0.003080 0 0 ITIH6 347365 broad.mit.edu 37 X 54781507 54781507 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:54781507G>T ENST00000218436.6 - 9 3174 c.3145C>A c.(3145-3147)Ctg>Atg p.L1049M NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1049 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GCTCCTCCCAGGATCTCCTCA 0.483000 35 15 1.43246e-33 2.5815e-33 0.007835 1 0 MYH2 4620 broad.mit.edu 37 17 10432354 10432354 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:10432354C>A ENST00000245503.5 - 27 3781 c.3397G>T c.(3397-3399)Gcc>Tcc p.A1133S MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1133S NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1133 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCCCGGGAGGCCCGCTCTGCC 0.602000 17 60 8.10497e-08 1.17226e-07 0.001523 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704114 56704114 + Nonsense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:56704114A>T ENST00000586855.2 - 2 621 c.308T>A c.(307-309)tTa>tAa p.L103* ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.L103* A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 103 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CACCTTGACTAAGACCTGGAG 0.542000 7 67 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776363 77776363 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:77776363C>A ENST00000521891.2 + 11 10861 c.10413C>A c.(10411-10413)caC>caA p.H3471Q ZFHX4_ENST00000455469.2_Missense_Mutation_p.H3426Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H3445Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H3422Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3422 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAGCTTGCACAAAGAGAAAA 0.448000 HNSCC(33;0.089) 18 39 5.01169e-05 6.32562e-05 0.004990 1 0 MED23 9439 broad.mit.edu 37 6 131924232 131924232 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:131924232G>A ENST00000403834.3 - 16 2060 c.1887C>T c.(1885-1887)ctC>ctT p.L629L MED23_ENST00000539158.1_3'UTR|MED23_ENST00000354577.4_Silent_p.L629L|MED23_ENST00000540546.1_Silent_p.L629L|MED23_ENST00000368058.1_Silent_p.L629L|MED23_ENST00000545957.1_Silent_p.L264L|MED23_ENST00000368060.3_Silent_p.L623L|MED23_ENST00000368053.4_Silent_p.L629L|MED23_ENST00000368068.3_Silent_p.L623L Q9ULK4 MED23_HUMAN mediator complex subunit 23 623 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GATGACTCAGGAGCTGAACTC 0.423000 18 40 0 0 0.007413 0 0 ABTB1 80325 broad.mit.edu 37 3 127395174 127395174 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:127395174G>A ENST00000232744.8 + 5 466 c.380G>A c.(379-381)cGg>cAg p.R127Q ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 127 BTB 1. cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 AAGCCATTCCGGGTGCATCGC 0.582000 23 91 0 0 0.003330 0 0 DCX 1641 broad.mit.edu 37 X 110654013 110654013 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:110654013G>A ENST00000338081.3 - 1 361 c.190C>T c.(190-192)Ccg>Tcg p.P64S DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 64 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGGAACTTCGGGCTAAATACA 0.423000 11 98 0 0 0.000978 0 0 ZNF629 23361 broad.mit.edu 37 16 30793208 30793208 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:30793208C>A ENST00000262525.4 - 3 2648 c.2441G>T c.(2440-2442)gGt>gTt p.G814V NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 814 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CTCGCCCTCACCTTCCTGATC 0.612000 37 86 2.51541e-25 4.43818e-25 0.004878 1 0 IL17RC 84818 broad.mit.edu 37 3 9975223 9975223 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:9975223G>T ENST00000295981.3 + 19 2540 c.2322G>T c.(2320-2322)gcG>gcT p.A774A IL17RC_ENST00000383812.4_Silent_p.A688A|IL17RC_ENST00000455057.1_Silent_p.A671A|IL17RC_ENST00000416074.2_Silent_p.A529A|IL17RC_ENST00000403601.3_Silent_p.A703A|IL17RC_ENST00000413608.1_Silent_p.A690A|IL17RC_ENST00000498214.1_3'UTR NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 774 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGACTCCCGCGCCGGGACGCG 0.687000 7 8 0.00198382 0.00230533 0.001984 1 0 SEMA3D 223117 broad.mit.edu 37 7 84628952 84628952 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:84628952T>C ENST00000284136.6 - 17 2181 c.2138A>G c.(2137-2139)tAc>tGc p.Y713C SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 713 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GTAGTCTTTGTATCTCAACCG 0.488000 18 44 0 0 0.006122 0 0 SIRPD 128646 broad.mit.edu 37 20 1532359 1532359 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:1532359C>A ENST00000381623.3 - 2 1588 c.399G>T c.(397-399)cgG>cgT p.R133R SIRPD_ENST00000381621.1_Silent_p.R133R Q9H106 SIRPD_HUMAN signal-regulatory protein delta 133 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 CCTGAGTGCCCCGACCTGATT 0.443000 16 34 1.3612e-06 1.87235e-06 0.003163 1 0 MKI67 4288 broad.mit.edu 37 10 129913665 129913665 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:129913665C>A ENST00000368654.3 - 7 1382 c.1007G>T c.(1006-1008)aGc>aTc p.S336I MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 336 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GAGAGGAAAGCTGGCGCCCAC 0.483000 49 61 6.08268e-21 1.03528e-20 0.003610 1 0 CDH22 64405 broad.mit.edu 37 20 44806656 44806656 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:44806656G>T ENST00000372262.3 - 10 2244 c.1844C>A c.(1843-1845)gCc>gAc p.A615D CDH22_ENST00000537909.1_Missense_Mutation_p.A615D NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 615 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CATGACAAAGGCCGTGGTGTT 0.652000 5 21 1.23904e-05 1.61844e-05 0.000602 1 0 DCDC1 341019 broad.mit.edu 37 11 30953443 30953443 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:30953443T>A ENST00000597505.1 - 20 2771 c.2772A>T c.(2770-2772)aaA>aaT p.K924N DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.K3N|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 277 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TACAGATGGGTTTCTTCATGG 0.413000 13 26 0 0 0.001368 0 0 GABRG2 2566 broad.mit.edu 37 5 161576310 161576310 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:161576310G>T ENST00000356592.3 + 8 1579 c.1119G>T c.(1117-1119)aaG>aaT p.K373N GABRG2_ENST00000393933.4_Missense_Mutation_p.K278N|GABRG2_ENST00000361925.4_Missense_Mutation_p.K373N|GABRG2_ENST00000414552.2_Missense_Mutation_p.K413N NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 373 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATAAAAAGAAGAAAAACCCTG 0.388000 6 39 4.096e-09 6.27433e-09 0.001168 1 0 LAS1L 81887 broad.mit.edu 37 X 64749694 64749694 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:64749694C>A ENST00000374811.3 - 5 619 c.579G>T c.(577-579)ctG>ctT p.L193L LAS1L_ENST00000312391.8_Silent_p.L193L|LAS1L_ENST00000374807.5_Silent_p.L193L|LAS1L_ENST00000374804.5_Silent_p.L151L NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 193 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 AGGTCTCTCTCAGGCTGTTCT 0.517000 42 30 4.0492e-12 6.498e-12 0.006999 1 0 ASPDH 554235 broad.mit.edu 37 19 51017748 51017748 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:51017748C>T ENST00000376916.3 - 1 199 c.19G>A c.(19-21)Ggt>Agt p.G7S ASPDH_ENST00000597030.1_5'UTR NM_001024656.2 NP_001019827.2 A6ND91 ASPD_HUMAN aspartate dehydrogenase domain containing 0 NAD biosynthetic process|NADP catabolic process aspartate dehydrogenase activity|NADP binding endometrium(1)|large_intestine(1)|lung(1) 3 GACTTGCTACCTTTCACTCTG 0.647000 50 105 0 0 0.003610 0 0 BRINP3 339479 broad.mit.edu 37 1 190067160 190067160 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:190067160T>C ENST00000367462.3 - 8 2520 c.2289A>G c.(2287-2289)aaA>aaG p.K763K FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.K661K NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 763 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AACTACATAATTTGGTCGTGT 0.378000 7 89 0 0 0.004482 0 0 CD248 57124 broad.mit.edu 37 11 66082510 66082510 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:66082510A>G ENST00000311330.3 - 1 2005 c.1989T>C c.(1987-1989)gcT>gcC p.A663A RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 663 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTGCTGTGGGAGCTGGTGAGG 0.647000 10 76 0 0 0.006214 0 0 FBN2 2201 broad.mit.edu 37 5 127666351 127666351 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:127666351C>A ENST00000508053.1 - 39 5233 c.4259G>T c.(4258-4260)aGc>aTc p.S1420I FBN2_ENST00000508989.1_Missense_Mutation_p.S1387I|FBN2_ENST00000262464.4_Missense_Mutation_p.S1420I|FBN2_ENST00000507835.1_Missense_Mutation_p.S270I P35556 FBN2_HUMAN fibrillin 2 1420 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGCATTGATGCTACACTGGTG 0.468000 5 33 0.000602214 0.000719668 0.000602 1 0 CMYA5 202333 broad.mit.edu 37 5 79025142 79025142 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:79025142A>G ENST00000446378.2 + 2 585 c.554A>G c.(553-555)tAt>tGt p.Y185C NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 185 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGAAGTCATATACTGGCATT 0.368000 12 26 0 0 0.000978 0 0 LRRC28 123355 broad.mit.edu 37 15 99828072 99828072 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:99828072G>A ENST00000301981.3 + 5 541 c.301G>A c.(301-303)Gaa>Aaa p.E101K LRRC28_ENST00000422500.2_Missense_Mutation_p.E101K|LRRC28_ENST00000442993.2_Missense_Mutation_p.E101K|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.E101K NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 101 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) CAATGCCTTAGAAATTGTTTG 0.388000 17 53 0 0 0.004990 0 0 STAP1 26228 broad.mit.edu 37 4 68436850 68436850 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:68436850T>A ENST00000265404.2 + 2 251 c.169T>A c.(169-171)Tat>Aat p.Y57N STAP1_ENST00000396225.1_Missense_Mutation_p.Y57N NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 57 PH. cellular membrane fusion|intracellular protein transport cytoplasm p.Y57H(1) NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 TCTTTTCTTTTATACCGACAA 0.313000 39 107 0 0 0.003214 0 0 RBM10 8241 broad.mit.edu 37 X 47034417 47034417 + Splice_Site SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:47034417G>A ENST00000377604.3 + 6 1244 c.e6-1 RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GCTGTCTCCAGGTCAGAGCCG 0.607000 20 8 0 0 0.001882 0 0 IFNL3 282617 broad.mit.edu 37 19 39735475 39735475 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:39735475G>A ENST00000413851.2 - 1 171 c.133C>T c.(133-135)Ctg>Ttg p.L45L NM_172139.2 NP_742151.2 interferon, lambda 3 TGTGGAGACAGGGACTTGAAC 0.632000 17 38 0 0 0.006122 0 0 KCTD14 65987 broad.mit.edu 37 11 77727957 77727957 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:77727957C>A ENST00000353172.5 - 2 494 c.450G>T c.(448-450)gaG>gaT p.E150D KCTD14_ENST00000533144.1_Missense_Mutation_p.E120D NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 150 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GCACCATGAGCTCCAGGTTCT 0.552000 5 124 1.23904e-05 1.61844e-05 0.000602 1 0 TAF3 83860 broad.mit.edu 37 10 8007139 8007139 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:8007139A>G ENST00000344293.5 + 3 1872 c.1666A>G c.(1666-1668)Aag>Gag p.K556E NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 556 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 aagtaaggagaaggataaagt 0.378000 12 18 0 0 0.000978 0 0 SCN11A 11280 broad.mit.edu 37 3 38938351 38938351 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:38938351C>A ENST00000302328.3 - 14 2586 c.2388G>T c.(2386-2388)gtG>gtT p.V796V SCN11A_ENST00000444237.2_Silent_p.V796V|SCN11A_ENST00000456224.3_Silent_p.V796V|SCN11A_ENST00000450244.1_Silent_p.V796V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 796 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTTTTCCTATCACCGTGATCA 0.353000 12 15 0.00136819 0.00160098 0.001368 1 0 EIF3D 8664 broad.mit.edu 37 22 36912753 36912753 + Splice_Site SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:36912753G>A ENST00000216190.8 - 11 1445 c.1076_splice c.e11+1 p.R359_splice EIF3D_ENST00000405442.1_Splice_Site_p.R359_splice|EIF3D_ENST00000541106.1_Splice_Site_p.R310_splice NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 359 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 GTGACCTACCGGTACGCAACA 0.502000 8 132 0 0 0.003080 0 0 KERA 11081 broad.mit.edu 37 12 91449763 91449763 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:91449763C>G ENST00000266719.3 - 2 543 c.296G>C c.(295-297)tGg>tCg p.W99S NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 99 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 TAGATTTATCCATCTTAGCTG 0.368000 27 56 0 0 0.003954 0 0 GPR35 2859 broad.mit.edu 37 2 241569575 241569575 + Missense_Mutation SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:241569575T>G ENST00000319838.5 + 6 1148 c.206T>G c.(205-207)cTg>cGg p.L69R GPR35_ENST00000438013.2_Missense_Mutation_p.L100R|GPR35_ENST00000407714.1_Missense_Mutation_p.L69R|GPR35_ENST00000403859.1_Missense_Mutation_p.L69R|GPR35_ENST00000430267.1_Missense_Mutation_p.L69R NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 69 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GACCTCTGCCTGCTGTGCACC 0.632000 18 28 0 0 0.008871 0 0 UNC93A 54346 broad.mit.edu 37 6 167721399 167721399 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:167721399G>T ENST00000230256.3 + 7 1283 c.e7+1 UNC93A_ENST00000366829.2_Splice_Site NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CAAAACAATGGTGAGTCCCCA 0.607000 11 28 4.68919e-08 6.84094e-08 0.008291 1 0 LOC100130331 100130331 broad.mit.edu 37 1 238090355 238090355 + RNA SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:238090355G>T ENST00000450451.1 + 0 1861 NR_027247.2 GCATGGCATCGTCACCAACTG 0.602000 11 65 1.08611e-07 1.55752e-07 0.000978 1 0 CYP11B1 1584 broad.mit.edu 37 8 143957227 143957227 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:143957227C>A ENST00000292427.4 - 6 1054 c.1022G>T c.(1021-1023)cGc>cTc p.R341L CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341L|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412L NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 341 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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) Mitotane(DB00648) GCTCTCCTGGCGCAGGGCCTG 0.642000 Familial Hyperaldosteronism type I 52 108 7.47603e-22 1.28542e-21 0.003610 1 0 FASN 2194 broad.mit.edu 37 17 80042140 80042140 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:80042140G>A ENST00000306749.2 - 28 5107 c.4889C>T c.(4888-4890)cCg>cTg p.P1630L NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1630 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GAGGAAGTCCGGTGACAGCAG 0.652000 9 11 0 0 0.004482 0 0 GPR156 165829 broad.mit.edu 37 3 119886746 119886746 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:119886746C>A ENST00000464295.1 - 10 2023 c.1578G>T c.(1576-1578)agG>agT p.R526S GPR156_ENST00000461057.1_Missense_Mutation_p.R522S|GPR156_ENST00000315843.3_Missense_Mutation_p.R526S Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 526 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TCTCCAGATGCCTCTGTCTCT 0.577000 55 110 5.47352e-35 9.97069e-35 0.003610 1 0 OSGEPL1 64172 broad.mit.edu 37 2 190619958 190619958 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:190619958A>T ENST00000519810.1 - 4 892 c.550T>A c.(550-552)Tca>Aca p.S184T OSGEPL1_ENST00000522700.1_Missense_Mutation_p.S184T|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.S184T Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 184 proteolysis|tRNA processing metalloendopeptidase activity large_intestine(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) AGAAAATCTGAAACTCCTTGA 0.348000 28 22 0 0 0.007291 0 0 CDH18 1016 broad.mit.edu 37 5 19473781 19473781 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:19473781G>A ENST00000507958.1 - 15 2917 c.1927C>T c.(1927-1929)Ccc>Tcc p.P643S CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.P643S|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.P643S Q13634 CAD18_HUMAN cadherin 18, type 2 643 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ATGATCAAGGGCTCTTTTTTG 0.443000 15 226 0 0 0.003163 0 0 ASXL3 80816 broad.mit.edu 37 18 31323767 31323767 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:31323767G>T ENST00000269197.5 + 12 3955 c.3955G>T c.(3955-3957)Gat>Tat p.D1319Y NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1319 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AAGCTCCATGGATGATAAGCA 0.453000 72 132 1.49723e-40 2.75719e-40 0.003610 1 0 SPTA1 6708 broad.mit.edu 37 1 158590209 158590209 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:158590209G>C ENST00000368148.3 - 44 6348 c.6168C>G c.(6166-6168)aaC>aaG p.N2056K SPTA1_ENST00000368147.3_Missense_Mutation_p.N2053K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2056 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACACCAGTTGTTCAAAGCTG 0.458000 12 30 0 0 0.002450 0 0 APBA1 320 broad.mit.edu 37 9 72055918 72055918 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:72055918A>G ENST00000265381.4 - 11 2517 c.2295T>C c.(2293-2295)aaT>aaC p.N765N NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 765 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TTACAATTCCATTCTGGACGC 0.483000 8 63 0 0 0.008291 0 0 POP1 10940 broad.mit.edu 37 8 99142321 99142321 + Nonsense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:99142321G>A ENST00000401707.2 + 5 683 c.602G>A c.(601-603)tGg>tAg p.W201* POP1_ENST00000349693.3_Nonsense_Mutation_p.W201* NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 201 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AAGAACATTTGGTTAGAAACT 0.448000 24 31 0 0 0.002780 0 0 HAS2 3037 broad.mit.edu 37 8 122641356 122641356 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:122641356T>C ENST00000303924.4 - 2 762 c.225A>G c.(223-225)ctA>ctG p.L75L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 75 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGGGGGTTTCTAGGGATTTTT 0.413000 34 184 0 0 0.002836 0 0 LRRC32 2615 broad.mit.edu 37 11 76372307 76372307 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:76372307C>T ENST00000407242.2 - 3 572 c.330G>A c.(328-330)gcG>gcA p.A110A LRRC32_ENST00000404995.1_Silent_p.A110A|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.A110A NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 110 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CAGTGGCCATCGCCAGCCGGT 0.672000 24 99 0 0 0.002299 0 0 SLC16A1 6566 broad.mit.edu 37 1 113460446 113460446 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:113460446G>A ENST00000538576.1 - 4 1413 c.582C>T c.(580-582)ctC>ctT p.L194L SLC16A1_ENST00000369626.3_Silent_p.L194L|SLC16A1_ENST00000433570.4_Silent_p.L194L NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 194 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) TTGGTCGCATGAGGGCTCCAG 0.488000 29 27 0 0 0.008361 0 0 POM121L12 285877 broad.mit.edu 37 7 53103448 53103448 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:53103448C>A ENST00000408890.4 + 1 100 c.84C>A c.(82-84)gcC>gcA p.A28A NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 28 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCCCGACGCCCTGGCGGCTC 0.706000 12 27 6.40141e-05 7.96043e-05 0.000978 1 0 AKAP13 11214 broad.mit.edu 37 15 86122780 86122780 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:86122780G>T ENST00000394518.2 + 7 1576 c.1481G>T c.(1480-1482)tGg>tTg p.W494L AKAP13_ENST00000361243.2_Missense_Mutation_p.W494L|RP11-815J21.2_ENST00000561409.1_RNA NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 494 RII-binding. W -> R (in dbSNP:rs2061822). apoptosis|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|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GCCACTGTTTGGAAGAATGTG 0.488000 32 53 3.57733e-08 5.26445e-08 0.001786 1 0 RBP3 5949 broad.mit.edu 37 10 48388863 48388863 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:48388863G>A ENST00000224600.4 - 1 2128 c.2015C>T c.(2014-2016)gCc>gTc p.A672V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 672 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGTGCGGTAGGCGCCCTGGGC 0.662000 14 25 0 0 0.001855 0 0 ERBB4 2066 broad.mit.edu 37 2 212248356 212248356 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:212248356C>A ENST00000342788.4 - 28 4221 c.3911G>T c.(3910-3912)cGg>cTg p.R1304L ERBB4_ENST00000402597.1_Missense_Mutation_p.R1294L|ERBB4_ENST00000436443.1_Missense_Mutation_p.R1288L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1304 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CACAGTATTCCGGTGTCTGTA 0.532000 TSP Lung(8;0.080) 12 42 7.93312e-07 1.10474e-06 0.002450 1 0 GBF1 8729 broad.mit.edu 37 10 104103885 104103885 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:104103885A>T ENST00000369983.3 + 4 501 c.241A>T c.(241-243)Atc>Ttc p.I81F NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 81 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CACTGGCCCTATCACTGGACT 0.458000 46 60 0 0 0.002522 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192477 132192477 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:132192477G>C ENST00000359827.3 - 2 1938 c.976C>G c.(976-978)Ctt>Gtt p.L326V PLXNA4_ENST00000321063.4_Missense_Mutation_p.L326V|PLXNA4_ENST00000423507.2_Missense_Mutation_p.L326V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L326V Q9HCM2 PLXA4_HUMAN plexin A4 326 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGGACTCCAAGGGTCCTGCCA 0.587000 17 27 0 0 0.007413 0 0 ENC1 8507 broad.mit.edu 37 5 73931234 73931234 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:73931234C>A ENST00000302351.4 - 2 2207 c.1077G>T c.(1075-1077)tgG>tgT p.W359C ENC1_ENST00000510316.1_Missense_Mutation_p.W286C|ENC1_ENST00000537006.1_Missense_Mutation_p.W359C NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 359 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TATCATAAACCCAGACATCTT 0.542000 40 68 2.52637e-11 3.99712e-11 0.005524 1 0 FASN 2194 broad.mit.edu 37 17 80051597 80051597 + Missense_Mutation SNP C C A rs145409565 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:80051597C>A ENST00000306749.2 - 4 549 c.331G>T c.(331-333)Gtg>Ttg p.V111L NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 111 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GAGCCGCTCACGCCCACCCAG 0.662000 23 61 1.96895e-08 2.936e-08 0.002780 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530196 80530196 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:80530196C>A ENST00000295057.3 - 2 1405 c.749G>T c.(748-750)aGc>aTc p.S250I CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S250I|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 250 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GTCCAGCGAGCTGACCACAAT 0.592000 HNSCC(69;0.2) 12 58 0.000978159 0.0011648 0.000978 1 0 ZNF106 64397 broad.mit.edu 37 15 42714782 42714782 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:42714782G>A ENST00000263805.4 - 15 5547 c.5221C>T c.(5221-5223)Cat>Tat p.H1741Y ZNF106_ENST00000565380.1_Missense_Mutation_p.H969Y|ZNF106_ENST00000565611.1_Missense_Mutation_p.H926Y|ZNF106_ENST00000565660.1_5'UTR NM_022473.1 NP_071918.1 zinc finger protein 106 GTCACTGCATGATTGTGACCT 0.418000 14 31 0 0 0.001855 0 0 FAM47C 442444 broad.mit.edu 37 X 37028396 37028396 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:37028396G>A ENST00000358047.3 + 1 1965 c.1913G>A c.(1912-1914)cGg>cAg p.R638Q NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 638 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCAAGACTCGGATGTACAGT 0.647000 43 32 0 0 0.003610 0 0 OR6F1 343169 broad.mit.edu 37 1 247875407 247875407 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:247875407G>T ENST00000302084.2 - 1 698 c.651C>A c.(649-651)tcC>tcA p.S217S RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGTACACATAGGAGACAAAGG 0.542000 35 64 4.31634e-10 6.6725e-10 0.002445 1 0 HIVEP1 3096 broad.mit.edu 37 6 12161872 12161872 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:12161872G>A ENST00000379388.2 + 8 7020 c.6688G>A c.(6688-6690)Gag>Aag p.E2230K HIVEP1_ENST00000541134.1_Missense_Mutation_p.E95K NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2230 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) GAGTACTGACGAGGATGTCAG 0.572000 14 15 0 0 0.001855 0 0 VPS13B 157680 broad.mit.edu 37 8 100829872 100829872 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:100829872G>A ENST00000358544.2 + 45 8388 c.8277G>A c.(8275-8277)cgG>cgA p.R2759R VPS13B_ENST00000357162.2_Silent_p.R2734R|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2759 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) CTGTAGTTCGGGAACATTTTG 0.423000 22 44 0 0 0.002299 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187634 58187634 + Nonsense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:58187634G>T ENST00000318203.5 + 3 818 c.121G>T c.(121-123)Gag>Tag p.E41* NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 41 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGGATTTCTGAGTTCTCAAG 0.398000 11 33 6.40141e-05 7.96043e-05 0.000978 1 0 SRP72 6731 broad.mit.edu 37 4 57344766 57344766 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:57344766A>T ENST00000342756.5 + 8 1497 c.776A>T c.(775-777)gAt>gTt p.D259V SRP72_ENST00000510663.1_Intron NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 259 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) AGACCAACAGATGTGGGATTA 0.348000 15 26 0 0 0.003163 0 0 PTPRN 5798 broad.mit.edu 37 2 220162011 220162011 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:220162011A>G ENST00000295718.2 - 14 2272 c.2032T>C c.(2032-2034)Tgg>Cgg p.W678R PTPRN_ENST00000423636.2_Missense_Mutation_p.W588R|PTPRN_ENST00000409251.3_Missense_Mutation_p.W649R NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 678 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCCTCGCACCAGGACGGGGTG 0.657000 20 43 0 0 0.008871 0 0 CCT7 10574 broad.mit.edu 37 2 73461511 73461511 + Splice_Site SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:73461511T>A ENST00000258091.5 + 1 146 c.6_splice c.e1+1 p.M2_splice CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000540468.1_Splice_Site_p.M2_splice|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000398422.2_Splice_Site_p.M2_splice|CCT7_ENST00000473786.1_3'UTR NM_006429.3 NP_006420.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 2 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 TCCAAAATGATGGTGAGTGGC 0.627000 12 21 0 0 0.000978 0 0 AMPH 273 broad.mit.edu 37 7 38500890 38500890 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:38500890G>T ENST00000356264.2 - 11 1225 c.1010C>A c.(1009-1011)cCt>cAt p.P337H AMPH_ENST00000428293.2_Missense_Mutation_p.P337H|AMPH_ENST00000325590.5_Missense_Mutation_p.P337H NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 337 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TACCTGGGAAGGTGTTGTCAC 0.502000 51 91 1.32667e-27 2.36554e-27 0.003610 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146825897 146825897 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:146825897C>A ENST00000361727.3 + 7 1568 c.1052C>A c.(1051-1053)gCc>gAc p.A351D NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 351 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTGATCTTGCCAGAAGGAAG 0.393000 HNSCC(39;0.1) 20 73 2.89027e-11 4.5515e-11 0.002299 1 0 CYP26B1 56603 broad.mit.edu 37 2 72360433 72360433 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:72360433C>G ENST00000001146.2 - 5 1068 c.865G>C c.(865-867)Ggg>Cgg p.G289R CYP26B1_ENST00000412253.1_Missense_Mutation_p.G98R|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G214R NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 289 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 TCCAGGGTCCCGTCCTGCAGG 0.632000 10 20 0 0 0.001368 0 0 SLC2A9 56606 broad.mit.edu 37 4 9982247 9982247 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:9982247T>A ENST00000506583.1 - 7 780 c.563A>T c.(562-564)cAg>cTg p.Q188L SLC2A9_ENST00000264784.3_Missense_Mutation_p.Q217L|SLC2A9_ENST00000309065.3_Missense_Mutation_p.Q188L Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 217 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 GCCCAGAAGCTGCCCAGTGAA 0.567000 21 28 0 0 0.002299 0 0 FHOD3 80206 broad.mit.edu 37 18 34298499 34298499 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:34298499A>G ENST00000257209.4 + 16 2835 c.2713A>G c.(2713-2715)Act>Gct p.T905A FHOD3_ENST00000445677.1_Missense_Mutation_p.T867A|FHOD3_ENST00000359247.4_Missense_Mutation_p.T888A|FHOD3_ENST00000590592.1_Missense_Mutation_p.T1080A|FHOD3_ENST00000591635.1_Missense_Mutation_p.T101A NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 888 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GCCCACATTCACTAAGAAAAA 0.507000 25 74 0 0 0.003954 0 0 AIF1L 83543 broad.mit.edu 37 9 133986984 133986984 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:133986984G>T ENST00000372309.3 + 4 326 c.171_splice c.e4-1 p.E58_splice AIF1L_ENST00000372300.1_Splice_Site_p.E32_splice|AIF1L_ENST00000372297.2_5'UTR|AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000372301.2_5'UTR|AIF1L_ENST00000372302.1_Splice_Site_p.E32_splice|AIF1L_ENST00000372298.1_Splice_Site_p.E32_splice|AIF1L_ENST00000247291.3_Splice_Site_p.E32_splice|AIF1L_ENST00000372312.3_Splice_Site_p.E37_splice NM_001185095.1 NP_001172024.1 Q9BQI0 AIF1L_HUMAN allograft inflammatory factor 1-like 32 EF-hand 1. actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane actin filament binding|calcium ion binding lung(2) 2 ACCTCTTTAGGAGTTTCTGTG 0.547000 84 124 1.58411e-63 2.94942e-63 0.003610 1 0 TEX11 56159 broad.mit.edu 37 X 69890292 69890292 + Silent SNP G G A rs148392671 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:69890292G>A ENST00000395889.2 - 17 1515 c.1360C>T c.(1360-1362)Ctg>Ttg p.L454L TEX11_ENST00000344304.3_Silent_p.L454L|TEX11_ENST00000374333.2_Silent_p.L439L|TEX11_ENST00000374320.2_Silent_p.L129L NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 454 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) GTGAAGTCCAGATCCATTTCA 0.353000 19 3 0 0 0.001523 0 0 TEX13A 56157 broad.mit.edu 37 X 104464957 104464957 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:104464957G>T ENST00000372578.3 - 2 236 c.125C>A c.(124-126)tCc>tAc p.S42Y TEX13A_ENST00000372575.1_Missense_Mutation_p.S42Y|TEX13A_ENST00000413579.1_Missense_Mutation_p.S42Y|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 42 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CTTCTCCCAGGATAAGGATAT 0.567000 11 23 1.61879e-10 2.52561e-10 0.001368 1 0 RNFT2 84900 broad.mit.edu 37 12 117271635 117271635 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:117271635G>C ENST00000257575.4 + 8 1154 c.921G>C c.(919-921)ctG>ctC p.L307L RNFT2_ENST00000407967.3_Silent_p.L307L|RNFT2_ENST00000392549.2_Silent_p.L307L|RNFT2_ENST00000319176.7_Intron Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 307 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) TGAGCCAGCTGTTCCGATCCC 0.512000 19 29 0 0 0.008871 0 0 HCN1 348980 broad.mit.edu 37 5 45645551 45645551 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:45645551C>A ENST00000303230.4 - 2 642 c.585G>T c.(583-585)agG>agT p.R195S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 195 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CAGTCCCAGTCCTAAAATTCA 0.373000 15 33 1.49906e-05 1.94301e-05 0.002450 1 0 PTDSS1 9791 broad.mit.edu 37 8 97296350 97296350 + Silent SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:97296350A>T ENST00000517309.1 + 3 611 c.285A>T c.(283-285)cgA>cgT p.R95R PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 95 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CGTTCACTCGACCTCATCCAG 0.353000 4 67 0 0 0.000248 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744733 70744733 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:70744733G>T ENST00000260126.3 - 2 882 c.176C>A c.(175-177)cCg>cAg p.P59Q SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P59Q|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P59Q NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 59 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCCAAAGGCCGGGTTGGCGTC 0.657000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 46 9.31168e-06 1.24525e-05 0.001855 1 0 CDH19 28513 broad.mit.edu 37 18 64202248 64202248 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:64202248G>T ENST00000262150.2 - 8 1603 c.1311C>A c.(1309-1311)aaC>aaA p.N437K CDH19_ENST00000540086.1_Missense_Mutation_p.N437K NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 437 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TAATACTTAGGTTGTACCAAG 0.328000 21 36 8.10497e-08 1.17226e-07 0.001523 1 0 ZNF697 90874 broad.mit.edu 37 1 120165529 120165529 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:120165529C>T ENST00000421812.2 - 3 1556 c.1437G>A c.(1435-1437)acG>acA p.T479T NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GCTGCGTGAGCGTGGAGAAGT 0.652000 10 4 0 0 0.006214 0 0 LRRCC1 85444 broad.mit.edu 37 8 86025216 86025216 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:86025216A>G ENST00000414626.2 + 3 1255 c.366A>G c.(364-366)ctA>ctG p.L122L LRRCC1_ENST00000360375.3_Silent_p.L142L Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 142 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ATATTGATCTACATAGTAATC 0.343000 20 24 0 0 0.002299 0 0 ROBO2 6092 broad.mit.edu 37 3 77607285 77607285 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:77607285G>T ENST00000461745.1 + 9 2322 c.1422G>T c.(1420-1422)caG>caT p.Q474H ROBO2_ENST00000332191.8_Missense_Mutation_p.Q474H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Q490H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 474 Ig-like C2-type 5. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GCACACTGCAGATTAAGAATT 0.378000 7 37 5.18039e-06 7.03948e-06 0.003080 1 0 C7orf10 79783 broad.mit.edu 37 7 40277289 40277289 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:40277289G>C ENST00000309930.5 + 7 585 c.561G>C c.(559-561)tcG>tcC p.S187S C7orf10_ENST00000401647.2_Silent_p.S187S|C7orf10_ENST00000335693.4_Silent_p.S187S NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 187 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CTGTTGCCTCGGCTGTTTCTG 0.428000 18 50 0 0 0.007413 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923360 9923360 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:9923360C>T ENST00000396573.2 - 10 2236 c.1927G>A c.(1927-1929)Gct>Act p.A643T GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 643 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.A643S(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTGTAGCTAGCCAGGAATATG 0.507000 18 52 0 0 0.006122 0 0 GRM5 2915 broad.mit.edu 37 11 88338052 88338052 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:88338052C>A ENST00000418177.2 - 5 1595 c.1228G>T c.(1228-1230)Ggg>Tgg p.G410W GRM5_ENST00000455756.2_Missense_Mutation_p.G410W|GRM5_ENST00000305432.5_Missense_Mutation_p.G410W|GRM5_ENST00000305447.4_Missense_Mutation_p.G410W|GRM5_ENST00000393297.1_Missense_Mutation_p.G410W P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 410 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTGTGGAGCCCATAGGCCATC 0.463000 38 30 2.75727e-19 4.66935e-19 0.004878 1 0 LRRC28 123355 broad.mit.edu 37 15 99828097 99828097 + Missense_Mutation SNP G G T rs146950856 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:99828097G>T ENST00000301981.3 + 5 566 c.326G>T c.(325-327)cGt>cTt p.R109L LRRC28_ENST00000422500.2_Missense_Mutation_p.R109L|LRRC28_ENST00000442993.2_Missense_Mutation_p.R109L|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.R109L NM_144598.2 NP_653199.2 Q86X40 LRC28_HUMAN leucine rich repeat containing 28 109 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) GAAATTGGTCGTCTGAGAGCT 0.398000 12 50 7.03913e-09 1.06376e-08 0.001368 1 0 UNC5C 8633 broad.mit.edu 37 4 96469940 96469940 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:96469940G>T ENST00000453304.1 - 1 417 c.69C>A c.(67-69)ctC>ctA p.L23L UNC5C_ENST00000504962.1_Silent_p.L23L|UNC5C_ENST00000506749.1_Silent_p.L23L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 23 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CAGGTAGCACGAGCATTTGCA 0.677000 30 58 1.30988e-24 2.2872e-24 0.002096 1 0 ZNRF3 84133 broad.mit.edu 37 22 29445929 29445929 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:29445929G>T ENST00000544604.2 + 8 1935 c.1760G>T c.(1759-1761)cGc>cTc p.R587L ZNRF3_ENST00000402174.1_Missense_Mutation_p.R487L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.R487L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R487L NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 587 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TCCACCTTCCGCAGCTCCCTC 0.667000 24 92 2.21704e-12 3.57484e-12 0.002780 1 0 ZNF226 7769 broad.mit.edu 37 19 44680673 44680673 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:44680673A>G ENST00000590089.1 + 7 1625 c.1258A>G c.(1258-1260)Aaa>Gaa p.K420E ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.K420E|ZNF226_ENST00000337433.5_Missense_Mutation_p.K420E Q9NYT6 ZN226_HUMAN zinc finger protein 226 420 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GAAACCATACAAATGTGAGGA 0.418000 24 48 0 0 0.002299 0 0 BCAN 63827 broad.mit.edu 37 1 156622210 156622210 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:156622210G>A ENST00000329117.4 + 8 1804 c.1468G>A c.(1468-1470)Ggc>Agc p.G490S RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G490S NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 490 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGCAGCCCGGGCCCTGAGGC 0.607000 3 16 0 0 0.004672 0 0 TENM2 57451 broad.mit.edu 37 5 167589629 167589629 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:167589629C>A ENST00000519204.1 + 12 2191 c.2073C>A c.(2071-2073)gaC>gaA p.D691E TENM2_ENST00000403607.2_Missense_Mutation_p.D636E|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.D580E|TENM2_ENST00000518659.1_Missense_Mutation_p.D812E|TENM2_ENST00000545108.1_Missense_Mutation_p.D812E teneurin transmembrane protein 2 GCTGCCCTGACTTGTGCAACG 0.617000 12 23 5.50884e-06 7.39633e-06 0.001368 1 0 TIAM1 7074 broad.mit.edu 37 21 32493002 32493002 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr21:32493002T>C ENST00000286827.3 - 29 4931 c.4460A>G c.(4459-4461)cAg>cGg p.Q1487R TIAM1_ENST00000541036.1_Missense_Mutation_p.Q1427R NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1487 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 AAGATCAAACTGCTCCTCTAC 0.547000 17 26 0 0 0.004990 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807324 133807324 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:133807324C>G ENST00000321016.8 - 5 856 c.626G>C c.(625-627)cGa>cCa p.R209P IGSF9B_ENST00000533871.2_Missense_Mutation_p.R209P Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 209 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTGTACGCTCGGCAGGTGTA 0.617000 10 8 0 0 0.001368 0 0 KCNG1 3755 broad.mit.edu 37 20 49621081 49621081 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:49621081C>T ENST00000371571.4 - 3 1322 c.1037G>A c.(1036-1038)cGg>cAg p.R346Q RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 346 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCGCAGCGCCCGCAGCACGCG 0.736000 9 8 0 0 0.006214 0 0 TMEM117 84216 broad.mit.edu 37 12 44781917 44781917 + Missense_Mutation SNP C C T rs141562455 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:44781917C>T ENST00000266534.3 + 8 1134 c.1007C>T c.(1006-1008)cCg>cTg p.P336L TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.P232L|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 336 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TATATCGGCCCGGGGCAGAAG 0.378000 4 32 0 0 0.000248 0 0 MYCBP2 23077 broad.mit.edu 37 13 77831856 77831856 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:77831856T>C ENST00000407578.2 - 14 2392 c.2126A>G c.(2125-2127)aAt>aGt p.N709S MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N671S|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N671S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGTCCTTTATTATTTACACC 0.383000 48 79 0 0 0.003610 0 0 OCA2 4948 broad.mit.edu 37 15 28231765 28231765 + Missense_Mutation SNP C C G rs140703213 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:28231765C>G ENST00000354638.3 - 12 1362 c.1207G>C c.(1207-1209)Gaa>Caa p.E403Q OCA2_ENST00000353809.5_Missense_Mutation_p.E379Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E403Q NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 403 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AATCCCGTTTCTGAAAATATG 0.313000 Oculocutaneous Albinism 34 61 0 0 0.006230 0 0 ACTN2 88 broad.mit.edu 37 1 236902780 236902780 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:236902780T>A ENST00000366578.4 + 10 1221 c.1055T>A c.(1054-1056)cTg>cAg p.L352Q ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.L352Q NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 352 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CAGACCAAGCTGCGGATCAGC 0.607000 13 44 0 0 0.001368 0 0 TRAJ9 28746 broad.mit.edu 37 14 23004542 23004542 + RNA SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:23004542C>A ENST00000390528.1 + 0 41 GGAGCAGGAACAAGACTATTT 0.363000 9 23 1.12685e-05 1.48339e-05 0.004482 1 0 OR4P4 81300 broad.mit.edu 37 11 55406128 55406128 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:55406128C>G ENST00000314612.2 + 1 295 c.295C>G c.(295-297)Ctc>Gtc p.L99V NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TATGATACAACTCTTTACCAC 0.443000 16 76 0 0 0.003163 0 0 C2orf71 388939 broad.mit.edu 37 2 29295617 29295617 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:29295617G>T ENST00000331664.5 - 1 1510 c.1511C>A c.(1510-1512)gCc>gAc p.A504D NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 504 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTCCTGCCAGGCACACAGACT 0.562000 31 92 2.81731e-10 4.37528e-10 0.002096 1 0 DDI1 414301 broad.mit.edu 37 11 103907872 103907872 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:103907872C>G ENST00000302259.3 + 1 565 c.322C>G c.(322-324)Cgt>Ggt p.R108G PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 108 proteolysis aspartic-type endopeptidase activity p.R108C(2) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GTCCAGCTCCCGTCCACAGCA 0.667000 47 45 0 0 0.003610 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115540429 115540429 + Silent SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:115540429C>G ENST00000354462.3 + 6 644 c.486C>G c.(484-486)ccC>ccG p.P162P PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P pleckstrin homology domain containing, family S member 1 GTATGTGTCCCTCAAAATGCC 0.453000 15 20 0 0 0.003163 0 0 ZNF423 23090 broad.mit.edu 37 16 49671140 49671140 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:49671140G>C ENST00000561648.1 - 4 1976 c.1923C>G c.(1921-1923)ttC>ttG p.F641L ZNF423_ENST00000562520.1_Missense_Mutation_p.F581L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F524L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F524L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F641L|ZNF423_ENST00000563137.2_Missense_Mutation_p.F581L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F581L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 641 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CAAAGTTGGAGAACTTGAGGT 0.582000 4 44 0 0 0.000602 0 0 RFC1 5981 broad.mit.edu 37 4 39291518 39291518 + Nonsense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:39291518G>A ENST00000381897.1 - 24 3446 c.3313C>T c.(3313-3315)Caa>Taa p.Q1105* RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q1104* NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 1105 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TCATCAGATTGAGAGTCATCT 0.398000 20 89 0 0 0.007413 0 0 CALHM2 51063 broad.mit.edu 37 10 105209508 105209508 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:105209508G>T ENST00000393235.1 - 3 1388 c.191C>A c.(190-192)cCc>cAc p.P64H CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Missense_Mutation_p.P64H|CALHM2_ENST00000260743.5_Missense_Mutation_p.P64H Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 64 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 CACCAGGGCGGGCACGCCGAT 0.667000 6 75 3.59834e-05 4.59333e-05 0.001168 1 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259973 71259973 + Silent SNP A A T rs35547146 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:71259973A>T ENST00000528743.2 + 1 508 c.270A>T c.(268-270)tcA>tcT p.S90S NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 90 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GTTGCTCTTCAGGCTGTGGGT 0.632000 140 191 0 0 0.003610 0 0 TRIM52 84851 broad.mit.edu 37 5 180687006 180687006 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:180687006T>C ENST00000327767.4 - 1 1113 c.809A>G c.(808-810)tAc>tGc p.Y270C CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 270 intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) TCTCACCTGGTACTCCTGCAC 0.542000 56 157 0 0 0.003610 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48183951 48183951 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:48183951G>T ENST00000396720.3 + 6 1718 c.1524G>T c.(1522-1524)caG>caT p.Q508H CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 508 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CAGGTGGACAGCTCATCGCGA 0.731000 27 27 3.65163e-15 6.00292e-15 0.006320 1 0 WNT10B 7480 broad.mit.edu 37 12 49359933 49359933 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:49359933C>A ENST00000301061.4 - 5 1463 c.1115G>T c.(1114-1116)tGc>tTc p.C372F WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 372 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 CAGCACATAGCAGCACCAGTG 0.592000 18 53 9.7654e-05 0.000120547 0.007413 1 0 ATP9A 10079 broad.mit.edu 37 20 50329578 50329578 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:50329578C>A ENST00000338821.5 - 4 627 c.363G>T c.(361-363)gcG>gcT p.A121A ATP9A_ENST00000311637.5_Silent_p.A106A|ATP9A_ENST00000402822.1_Silent_p.A121A NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 121 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 TCTCCTCCACCGCCTCACGGA 0.627000 6 20 0.00116845 0.00137201 0.001168 1 0 MUC17 140453 broad.mit.edu 37 7 100679577 100679577 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:100679577G>T ENST00000306151.4 + 3 4944 c.4880G>T c.(4879-4881)aGt>aTt p.S1627I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1627 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S1627I(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCAACTCCTAGTGAAGGAAGT 0.493000 71 244 2.36135e-34 4.27837e-34 0.003610 1 0 CDH26 60437 broad.mit.edu 37 20 58569452 58569452 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:58569452C>T ENST00000348616.4 + 11 1874 c.1574C>T c.(1573-1575)cCg>cTg p.P525L CDH26_ENST00000244047.5_Missense_Mutation_p.P525L|CDH26_ENST00000497614.1_3'UTR NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 525 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GCAGAGGATCCGGACCTGGAG 0.542000 3 32 0 0 0.004672 0 0 NIM1K 167359 broad.mit.edu 37 5 43280133 43280133 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:43280133A>G ENST00000512796.1 + 4 2112 c.613A>G c.(613-615)Acc>Gcc p.T205A NIM1_ENST00000326035.2_Missense_Mutation_p.T205A Q8IY84 NIM1_HUMAN 205 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity TGTATTCTATACCAGTAATAC 0.378000 17 42 0 0 0.004990 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416636 57416636 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:57416636A>T ENST00000565912.1 + 2 3478 c.772A>T c.(772-774)Acc>Tcc p.T258S CX3CL1_ENST00000006053.6_Missense_Mutation_p.T296S|CX3CL1_ENST00000563383.1_Missense_Mutation_p.T302S P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 296 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CTCAGAAGGGACCCCCAGCAG 0.657000 7 67 0 0 0.004482 0 0 SCUBE1 80274 broad.mit.edu 37 22 43616542 43616542 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:43616542C>A ENST00000360835.3 - 14 1727 c.1601G>T c.(1600-1602)aGg>aTg p.R534M NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 534 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GCCACGGCGCCTCTTCTTGGA 0.582000 12 58 0.00010058 0.000123706 0.001368 1 0 OR4K2 390431 broad.mit.edu 37 14 20345265 20345265 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:20345265C>A ENST00000298642.2 + 1 875 c.839C>A c.(838-840)cCc>cAc p.P280H NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTTTACTCCCACTCTGAAC 0.378000 29 56 8.58068e-18 1.43153e-17 0.007291 1 0 ATRX 546 broad.mit.edu 37 X 76891476 76891476 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:76891476T>C ENST00000373344.5 - 16 4843 c.4629A>G c.(4627-4629)gaA>gaG p.E1543E ATRX_ENST00000395603.3_Silent_p.E1505E|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1543 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTTTGGTTTCTTCATCTTCAT 0.333000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 13 7 0 0 0.001368 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83350667 83350667 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:83350667G>C ENST00000295470.5 - 1 352 c.177C>G c.(175-177)cgC>cgG p.R59R HNRNPDL_ENST00000502762.1_Silent_p.R59R NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like CGGTGACGTGGCGCTGGGCCC 0.751000 3 3 0 0 0.004672 0 0 ACAN 176 broad.mit.edu 37 15 89398733 89398733 + Missense_Mutation SNP C C A rs141525827 by1000genomes TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:89398733C>A ENST00000439576.2 + 12 3291 c.2917C>A c.(2917-2919)Ctc>Atc p.L973I ACAN_ENST00000352105.7_Missense_Mutation_p.L973I|ACAN_ENST00000561243.1_Missense_Mutation_p.L973I|ACAN_ENST00000559004.1_Missense_Mutation_p.L973I NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 973 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTAGGAGACCTCAGTGGGCT 0.557000 101 185 1.35424e-50 2.50757e-50 0.003610 1 0 SLC32A1 140679 broad.mit.edu 37 20 37356572 37356572 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:37356572C>A ENST00000217420.1 + 2 1131 c.868C>A c.(868-870)Cgc>Agc p.R290S NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 290 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ATCGCGGGCGCGCGACTGGGC 0.532000 19 34 2.35188e-11 3.7386e-11 0.006122 1 0 GABRA4 2557 broad.mit.edu 37 4 46930594 46930594 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:46930594C>T ENST00000264318.3 - 9 2295 c.1313G>A c.(1312-1314)cGt>cAt p.R438H NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 438 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGCATTTGCACGGCTGAATGG 0.463000 5 69 0 0 0.001168 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591064 11591064 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:11591064C>T ENST00000294484.6 + 16 3341 c.3203C>T c.(3202-3204)cCg>cTg p.P1068L PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1068L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1068 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTGGTGAAGCCGGGTGGGGCC 0.622000 41 75 0 0 0.007835 0 0 XIRP2 129446 broad.mit.edu 37 2 168074801 168074801 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:168074801A>G ENST00000409195.1 + 5 938 c.849A>G c.(847-849)agA>agG p.R283R XIRP2_ENST00000409273.1_Silent_p.R61R|XIRP2_ENST00000295237.9_Silent_p.R283R|XIRP2_ENST00000409756.2_Silent_p.R283R|XIRP2_ENST00000409605.1_Silent_p.R61R|XIRP2_ENST00000420519.1_Silent_p.R316R|XIRP2_ENST00000409728.1_Silent_p.R316R|XIRP2_ENST00000409043.1_Silent_p.R283R NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 108 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCAGAACAGATCTGAGCAGG 0.408000 6 36 0 0 0.001168 0 0 EPS8L3 79574 broad.mit.edu 37 1 110293370 110293370 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:110293370C>T ENST00000369805.3 - 18 1914 c.1685G>A c.(1684-1686)cGc>cAc p.R562H RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.R531H|EPS8L3_ENST00000361965.4_Missense_Mutation_p.R561H NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 561 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGTCTTATGCGAAGTAGCTG 0.607000 16 19 0 0 0.004990 0 0 DISP1 84976 broad.mit.edu 37 1 223178804 223178804 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:223178804T>C ENST00000284476.6 + 8 4229 c.4065T>C c.(4063-4065)ttT>ttC p.F1355F NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1355 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTAGGAATTTTTTCCTCCACC 0.512000 24 48 0 0 0.002780 0 0 GRM5 2915 broad.mit.edu 37 11 88337921 88337921 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:88337921C>A ENST00000418177.2 - 5 1726 c.1359G>T c.(1357-1359)acG>acT p.T453T GRM5_ENST00000455756.2_Silent_p.T453T|GRM5_ENST00000305432.5_Silent_p.T453T|GRM5_ENST00000305447.4_Silent_p.T453T|GRM5_ENST00000393297.1_Silent_p.T453T P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 453 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CGAATAGGATCGTATCTCCAG 0.443000 26 21 7.92952e-12 1.26647e-11 0.003954 1 0 TNR 7143 broad.mit.edu 37 1 175365760 175365760 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:175365760G>T ENST00000367674.1 - 5 1868 c.1160C>A c.(1159-1161)cCa>cAa p.P387Q TNR_ENST00000263525.2_Missense_Mutation_p.P387Q NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 387 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGTGAGACCTGGCTCCAGCTC 0.592000 21 48 1.00905e-13 1.64275e-13 0.008871 1 0 SCUBE1 80274 broad.mit.edu 37 22 43614412 43614412 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:43614412G>T ENST00000360835.3 - 15 1866 c.1740C>A c.(1738-1740)gcC>gcA p.A580A NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 580 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) TCTTGATGGCGGCCTGCAGGC 0.612000 63 74 6.8682e-38 1.25793e-37 0.003610 1 0 BZRAP1 9256 broad.mit.edu 37 17 56400737 56400737 + Silent SNP C C A rs140181266 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:56400737C>A ENST00000355701.3 - 7 1896 c.1026G>T c.(1024-1026)tcG>tcT p.S342S BZRAP1_ENST00000268893.6_Silent_p.S282S|BZRAP1_ENST00000343736.4_Silent_p.S342S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 342 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCTGAGCTCCGATTCCTGAG 0.582000 13 153 4.3838e-07 6.15559e-07 0.001855 1 0 FAM181A 90050 broad.mit.edu 37 14 94394694 94394694 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:94394694C>T ENST00000267594.5 + 3 556 c.249C>T c.(247-249)atC>atT p.I83I FAM181A_ENST00000556222.1_Silent_p.I21I|FAM181A_ENST00000557719.1_Silent_p.I21I|FAM181A_ENST00000557000.2_Silent_p.I21I NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 83 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 CCAGCGACATCAAGGCAGCCC 0.597000 12 37 0 0 0.001368 0 0 MX1 4599 broad.mit.edu 37 21 42807878 42807878 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr21:42807878G>A ENST00000398600.2 + 8 1245 c.220G>A c.(220-222)Gcc>Acc p.A74T MX1_ENST00000455164.2_Missense_Mutation_p.A74T|MX1_ENST00000288383.6_Missense_Mutation_p.A74T|MX1_ENST00000398598.3_Missense_Mutation_p.A74T NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 74 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GCCAGCCATCGCCGTCATCGG 0.612000 5 60 0 0 0.000602 0 0 LAMB4 22798 broad.mit.edu 37 7 107708521 107708521 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:107708521C>G ENST00000388781.3 - 19 2469 c.2386G>C c.(2386-2388)Ggg>Cgg p.G796R LAMB4_ENST00000388780.3_Missense_Mutation_p.G796R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G796R NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 796 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAGCAGCGCCCGACCACAAGA 0.567000 7 174 0 0 0.001984 0 0 LCE3D 84648 broad.mit.edu 37 1 152552345 152552345 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:152552345G>T ENST00000368787.3 - 2 124 c.68C>A c.(67-69)cCa>cAa p.P23Q NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 23 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) TGGGCTCTTTGGGGGACACTT 0.612000 8 145 0.00307968 0.00354216 0.003080 1 0 SYCP2L 221711 broad.mit.edu 37 6 10911057 10911057 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:10911057G>T ENST00000283141.6 + 12 1169 c.872_splice c.e12-1 p.R291_splice SYCP2L_ENST00000543878.1_Splice_Site_p.R132_splice|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 291 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TATTTTGCAGGGTGTATTCAT 0.408000 24 90 6.44725e-10 9.92111e-10 0.002299 1 0 C3 718 broad.mit.edu 37 19 6712321 6712321 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:6712321C>G ENST00000245907.6 - 11 1308 c.1216G>C c.(1216-1218)Gtg>Ctg p.V406L NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 406 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AGTTTGGCCACGCCATCTCCC 0.617000 25 19 0 0 0.003330 0 0 COL9A1 1297 broad.mit.edu 37 6 70942411 70942411 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:70942411C>A ENST00000357250.6 - 36 2536 c.2378G>T c.(2377-2379)gGa>gTa p.G793V COL9A1_ENST00000320755.7_Missense_Mutation_p.G550V|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.G550V NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 793 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GCCAGGCCTTCCAGGAAGCCC 0.567000 9 30 0.000274275 0.000333685 0.004482 1 0 MEN1 4221 broad.mit.edu 37 11 64575538 64575538 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:64575538G>T ENST00000337652.1 - 3 997 c.494C>A c.(493-495)gCt>gAt p.A165D MEN1_ENST00000377321.1_Missense_Mutation_p.A160D|MEN1_ENST00000394374.2_Missense_Mutation_p.A165D|MEN1_ENST00000394376.1_Missense_Mutation_p.A165D|MEN1_ENST00000377313.1_Missense_Mutation_p.A165D|MEN1_ENST00000315422.4_Missense_Mutation_p.A160D|MEN1_ENST00000443283.1_Missense_Mutation_p.A165D|MEN1_ENST00000312049.6_Missense_Mutation_p.A160D|MEN1_ENST00000377326.3_Missense_Mutation_p.A160D|MEN1_ENST00000377316.2_Missense_Mutation_p.A160D NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 165 A -> P (in MEN1; strong decrease in JUND- binding).|A -> T (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CCCAACCACAGCAAAGGCCAC 0.602000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 8 9 1.12685e-05 1.48339e-05 0.004482 1 0 ARHGAP33 115703 broad.mit.edu 37 19 36279099 36279099 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:36279099G>A ENST00000007510.4 + 21 3776 c.3632G>A c.(3631-3633)cGg>cAg p.R1211Q ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R1050Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R1047Q O14559 RHG33_HUMAN Rho GTPase activating protein 33 1211 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CAGAAACAACGGGCACCCTGG 0.697000 5 75 0 0 0.001168 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228319 74228319 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:74228319G>A ENST00000316292.9 - 5 1778 c.787C>T c.(787-789)Cct>Tct p.P263S EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P263S|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P263S NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 263 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CGGCCAACAGGAACAGTACCA 0.413000 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 47 0 0 0.003080 0 0 PTH2R 5746 broad.mit.edu 37 2 209309504 209309504 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:209309504A>G ENST00000272847.2 + 7 958 c.745A>G c.(745-747)Aca>Gca p.T249A PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 249 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CTTCCTGGCTACAAATTATTA 0.383000 9 120 0 0 0.006214 0 0 ZNF606 80095 broad.mit.edu 37 19 58490705 58490705 + Missense_Mutation SNP C C G rs138065835 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:58490705C>G ENST00000341164.4 - 7 1963 c.1343G>C c.(1342-1344)cGg>cCg p.R448P ZNF606_ENST00000536132.1_Missense_Mutation_p.R358P NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) AGTGTGAGTCCGTTCATGTTT 0.353000 6 22 0 0 0.001168 0 0 INSC 387755 broad.mit.edu 37 11 15212246 15212246 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:15212246G>T ENST00000379554.3 + 6 766 c.e6-1 INSC_ENST00000379556.3_Splice_Site|INSC_ENST00000528567.1_Splice_Site|INSC_ENST00000424273.1_Splice_Site|INSC_ENST00000530161.1_Splice_Site|INSC_ENST00000447214.2_Splice_Site|INSC_ENST00000525218.1_Splice_Site NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TCTCTTCTTAGGCACTGGTGA 0.512000 37 87 4.62619e-21 7.91384e-21 0.004289 1 0 AGBL1 123624 broad.mit.edu 37 15 86702217 86702217 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:86702217G>C ENST00000441037.2 + 4 405 c.310G>C c.(310-312)Gtt>Ctt p.V104L AGBL1_ENST00000421325.2_Missense_Mutation_p.V104L NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 104 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCTTTTCAAGGTTATTACTCC 0.448000 27 72 0 0 0.004656 0 0 SMAD9 4093 broad.mit.edu 37 13 37427691 37427691 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:37427691C>A ENST00000379826.4 - 6 1467 c.1125G>T c.(1123-1125)aaG>aaT p.K375N SMAD9_ENST00000350148.5_Missense_Mutation_p.K338N|SMAD9_ENST00000399275.2_Missense_Mutation_p.K375N NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 375 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CGCTGGGGATCTTGCAGACGG 0.567000 13 34 4.3838e-07 6.15559e-07 0.001855 1 0 CCL23 6368 broad.mit.edu 37 17 34340812 34340812 + Missense_Mutation SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:34340812T>A ENST00000293280.2 - 3 344 c.274A>T c.(274-276)Aac>Tac p.N92Y CCL23_ENST00000591423.1_Missense_Mutation_p.N75Y NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 75 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CACTCGCTGTTCGTTTCAAAG 0.522000 20 22 0 0 0.007413 0 0 ITGB8 3696 broad.mit.edu 37 7 20441744 20441744 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:20441744G>T ENST00000222573.3 + 10 2366 c.1682G>T c.(1681-1683)tGt>tTt p.C561F ITGB8_ENST00000537992.1_Missense_Mutation_p.C426F NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 561 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GGAAATCTGTGTGCTGGTGAG 0.333000 17 32 9.16793e-09 1.37928e-08 0.004990 1 0 MMP19 4327 broad.mit.edu 37 12 56236185 56236185 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:56236185A>G ENST00000322569.4 - 2 216 c.125T>C c.(124-126)cTa>cCa p.L42P MMP19_ENST00000409200.3_Missense_Mutation_p.L42P|MMP19_ENST00000548629.1_Missense_Mutation_p.L42P|MMP19_ENST00000547487.1_5'UTR NM_002429.4 NP_002420.1 Q99542 MMP19_HUMAN matrix metallopeptidase 19 42 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 AGATCCTTCTAGAGGCTTCTG 0.453000 7 110 0 0 0.004482 0 0 RAB6C 84084 broad.mit.edu 37 2 130738011 130738011 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:130738011T>C ENST00000410061.2 + 1 777 c.323T>C c.(322-324)aTt>aCt p.I108T AC079776.7_ENST00000412425.1_RNA NM_032144.2 NP_115520.2 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 108 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) ACAAAGTGGATTGATGATGTC 0.433000 21 196 0 0 0.006320 0 0 KMT2D 8085 broad.mit.edu 37 12 49444044 49444044 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:49444044G>A ENST00000301067.7 - 11 3326 c.3327C>T c.(3325-3327)gcC>gcT p.A1109A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAGGGCTGGGGCAGGGCTGG 0.622000 3 19 0 0 0.000248 0 0 EML5 161436 broad.mit.edu 37 14 89087624 89087624 + Silent SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:89087624T>G ENST00000554922.1 - 38 5283 c.5035A>C c.(5035-5037)Agg>Cgg p.R1679R EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Silent_p.R1671R|EML5_ENST00000352093.5_Silent_p.R1633R NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1671 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCAGCATTCCTTGTCCCAACA 0.398000 51 73 0 0 0.003610 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38651210 38651210 + RNA SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:38651210G>A ENST00000494540.1 + 0 357 NR_003086.1 TAAATGCTGGGATCATGCCTA 0.363000 14 33 0 0 0.002450 0 0 RYR2 6262 broad.mit.edu 37 1 237947539 237947539 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:237947539T>C ENST00000366574.2 + 90 12844 c.12527T>C c.(12526-12528)gTg>gCg p.V4176A RYR2_ENST00000542537.1_Missense_Mutation_p.V4160A|RYR2_ENST00000360064.6_Missense_Mutation_p.V4182A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4176 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATATTTGACGTGGTCAACGAA 0.502000 27 73 0 0 0.006320 0 0 RAD54B 25788 broad.mit.edu 37 8 95392404 95392404 + Missense_Mutation SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:95392404T>G ENST00000336148.5 - 12 2340 c.2216A>C c.(2215-2217)gAc>gCc p.D739A NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) CCAATCAATGTCATAGAGAAT 0.338000 Direct reversal of damage;Homologous recombination 17 26 0 0 0.004007 0 0 AMOT 154796 broad.mit.edu 37 X 112024174 112024174 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:112024174G>A ENST00000371959.3 - 9 2412 c.2413C>T c.(2413-2415)Ctg>Ttg p.L805L AMOT_ENST00000371958.1_Silent_p.L573L|AMOT_ENST00000371962.1_Silent_p.L573L|AMOT_ENST00000304758.1_Silent_p.L396L|AMOT_ENST00000524145.1_Silent_p.L805L NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 805 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GAGCCAGTCAGGGTGGATGAG 0.527000 5 83 0 0 0.000602 0 0 RYR3 6263 broad.mit.edu 37 15 33962744 33962744 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:33962744G>A ENST00000389232.4 + 38 5917 c.5847G>A c.(5845-5847)gaG>gaA p.E1949E RYR3_ENST00000415757.3_Silent_p.E1949E NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1949 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CGGAGGAGGAGGAGAGATGCC 0.443000 23 55 0 0 0.003954 0 0 TARBP1 6894 broad.mit.edu 37 1 234606997 234606997 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:234606997C>T ENST00000040877.1 - 3 1035 c.1036G>A c.(1036-1038)Gtt>Att p.V346I NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 346 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) GGCTTTATAACATGTATCTAA 0.279000 7 10 0 0 0.004482 0 0 HBA2 3040 broad.mit.edu 37 16 223583 223583 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:223583C>T ENST00000251595.6 + 3 479 c.413C>T c.(412-414)aCc>aTc p.T138I HBA2_ENST00000397806.1_Missense_Mutation_p.T106I NM_000517.4 NP_000508.1 P69905 HBA_HUMAN hemoglobin, alpha 2 138 hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468) ACCGTGCTGACCTCCAAATAC 0.677000 OREG0003686 type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 28 0 0 0.008291 0 0 LILRA2 11027 broad.mit.edu 37 19 55085802 55085802 + Silent SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:55085802A>T ENST00000251377.3 + 4 238 c.105A>T c.(103-105)ccA>ccT p.P35P LILRA2_ENST00000391737.1_Silent_p.P23P|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.P35P|LILRA2_ENST00000391738.3_Silent_p.P35P leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GGGCTGAGCCAGGCTCTGTGA 0.547000 6 126 0 0 0.001168 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739677 34739677 + RNA SNP A A C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:34739677A>C ENST00000562591.1 - 0 245 NR_034019.1 TGCTCCAAAGAGATGTCCCAC 0.403000 12 11 0 0 0.000978 0 0 C10orf76 79591 broad.mit.edu 37 10 103773783 103773783 + Splice_Site SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:103773783T>A ENST00000370033.4 - 9 789 c.e9-2 NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ATTCACAGACTGTTAAATAAG 0.393000 5 65 0 0 0.000602 0 0 GRID1 2894 broad.mit.edu 37 10 87406989 87406989 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:87406989G>C ENST00000327946.7 - 13 2248 c.2163C>G c.(2161-2163)tgC>tgG p.C721W RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.C292W NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 721 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GACTGGACACGCAGTTGTCAG 0.617000 Multiple Myeloma(13;0.14) 62 214 0 0 0.003610 0 0 KCNB2 9312 broad.mit.edu 37 8 73849655 73849655 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:73849655A>T ENST00000523207.1 + 3 2653 c.2065A>T c.(2065-2067)Agt>Tgt p.S689C NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 689 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGGGCTACATAGTCCTTTGCA 0.512000 25 48 0 0 0.003954 0 0 PKP4 8502 broad.mit.edu 37 2 159533379 159533379 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:159533379G>T ENST00000389759.3 + 20 3368 c.3256_splice c.e20+1 p.G1086_splice PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA NM_003628.3 NP_003619.2 Q99569 PKP4_HUMAN plakophilin 4 1086 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCTGTACCCTGGTAAGACGCC 0.517000 HNSCC(62;0.18) 30 42 3.69857e-22 6.39188e-22 0.008361 1 0 SLC12A6 9990 broad.mit.edu 37 15 34546597 34546597 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:34546597G>A ENST00000354181.3 - 9 1562 c.1070C>T c.(1069-1071)gCc>gTc p.A357V SLC12A6_ENST00000558589.1_Missense_Mutation_p.A348V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A357V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A169V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A298V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A298V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A342V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A306V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A357V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A169V Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 357 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGCATAGATGGCCAAGATGGA 0.458000 27 42 0 0 0.004656 0 0 TNS3 64759 broad.mit.edu 37 7 47436483 47436483 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:47436483T>C ENST00000398879.1 - 16 1304 c.938A>G c.(937-939)aAc>aGc p.N313S TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.N313S Q68CZ2 TENS3_HUMAN tensin 3 313 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ACCGTGGTCGTTGTACAAGTG 0.527000 6 85 0 0 0.001168 0 0 EPHB6 2051 broad.mit.edu 37 7 142561001 142561001 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:142561001G>T ENST00000392957.2 + 5 803 c.16G>T c.(16-18)Gct>Tct p.A6S EPHB6_ENST00000411471.2_Missense_Mutation_p.A6S|EPHB6_ENST00000442129.1_Missense_Mutation_p.A6S NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 6 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TACTGAAGGGGCTGCCCAGTT 0.607000 4 24 0.00024832 0.000303202 0.000248 1 0 PLCE1 51196 broad.mit.edu 37 10 95931199 95931199 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:95931199C>T ENST00000260766.3 + 4 2389 c.1755C>T c.(1753-1755)acC>acT p.T585T PLCE1_ENST00000371385.3_Silent_p.T277T|PLCE1_ENST00000371380.2_Silent_p.T585T|PLCE1_ENST00000371375.1_Silent_p.T277T NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 585 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CGATTCTTACCACTCAGAATG 0.483000 24 58 0 0 0.003330 0 0 CD1E 913 broad.mit.edu 37 1 158326382 158326382 + Splice_Site SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:158326382G>C ENST00000444681.2 + 4 994 c.e4+1 CD1E_ENST00000368157.1_Splice_Site|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368163.3_Splice_Site|CD1E_ENST00000368156.1_Splice_Site|CD1E_ENST00000368166.3_Splice_Site|CD1E_ENST00000368167.3_Splice_Site|CD1E_ENST00000368165.3_Splice_Site|CD1E_ENST00000368155.3_Splice_Site|CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000452291.2_Splice_Site|CD1E_ENST00000368160.3_Splice_Site|CD1E_ENST00000368154.1_Splice_Site NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.?(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AAAAACAGAGGTGAGCTTTTT 0.368000 5 20 0 0 0.000602 0 0 RLF 6018 broad.mit.edu 37 1 40705790 40705790 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:40705790A>T ENST00000372771.4 + 8 5443 c.5416A>T c.(5416-5418)Aat>Tat p.N1806Y NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1806 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ACAGTCCAGTAATGATTTAAC 0.353000 6 35 0 0 0.001168 0 0 CNOT3 4849 broad.mit.edu 37 19 54656017 54656017 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:54656017T>C ENST00000406403.1 + 13 3263 c.1660T>C c.(1660-1662)Tct>Cct p.S554P CNOT3_ENST00000358389.3_Missense_Mutation_p.S373P|CNOT3_ENST00000221232.5_Missense_Mutation_p.S554P|CNOT3_ENST00000496327.1_3'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 554 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGCCATCAGCTCTGGCATTGA 0.652000 22 49 0 0 0.001882 0 0 PLXDC1 57125 broad.mit.edu 37 17 37296019 37296019 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:37296019G>C ENST00000315392.4 - 2 354 c.143C>G c.(142-144)gCc>gGc p.A48G PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Missense_Mutation_p.A48G NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 48 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GCTCTCTCGGGCTCTCCGGTT 0.662000 33 38 0 0 0.003755 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391157 139391157 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:139391157C>A ENST00000277541.6 - 34 7109 c.7034G>T c.(7033-7035)gGc>gTc p.G2345V NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2345 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCCTACCATGCCATGCTGCAG 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 71 2.17888e-05 2.8026e-05 0.006214 1 0 OAS2 4939 broad.mit.edu 37 12 113445593 113445593 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:113445593G>T ENST00000392583.2 + 9 1947 c.1740G>T c.(1738-1740)ggG>ggT p.G580G RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.G580G NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 580 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGGAGCAGGGGAGTGGAGTGC 0.517000 8 126 1.12685e-05 1.48339e-05 0.004482 1 0 ATP13A5 344905 broad.mit.edu 37 3 193082037 193082037 + Silent SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:193082037C>G ENST00000342358.4 - 2 213 c.96G>C c.(94-96)cgG>cgC p.R32R NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 32 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGAAGGCTTTCCGTACATTGT 0.463000 28 113 0 0 0.008361 0 0 TMEM81 388730 broad.mit.edu 37 1 205053413 205053413 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:205053413G>C ENST00000367167.3 - 1 232 c.36C>G c.(34-36)agC>agG p.S12R NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 12 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) CCAACCCCAGGCTCCCAAGGA 0.507000 18 70 0 0 0.008871 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921352 78921352 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:78921352C>T ENST00000261751.3 - 5 1406 c.1295G>A c.(1294-1296)aGc>aAc p.S432N CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 432 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGCGATGAAGCTGACACCTTC 0.572000 14 39 0 0 0.001855 0 0 FAT1 2195 broad.mit.edu 37 4 187524999 187524999 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:187524999C>A ENST00000441802.2 - 19 10890 c.10681G>T c.(10681-10683)Ggt>Tgt p.G3561C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3561 Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATGACGCCACCTGAGTATTCT 0.473000 HNSCC(5;0.00058) 12 32 5.50884e-06 7.39633e-06 0.001368 1 0 LCE2B 26239 broad.mit.edu 37 1 152659578 152659578 + Nonsense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:152659578C>T ENST00000368780.3 + 2 313 c.259C>T c.(259-261)Cag>Tag p.Q87* LCE2B_ENST00000417924.2_Nonsense_Mutation_p.Q87* NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 87 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCCGGCACCAGAGCCCCGA 0.667000 45 116 0 0 0.008740 0 0 SLC7A8 23428 broad.mit.edu 37 14 23598917 23598917 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:23598917G>A ENST00000316902.7 - 9 1930 c.1205C>T c.(1204-1206)aCg>aTg p.T402M SLC7A8_ENST00000422941.2_Missense_Mutation_p.T178M|SLC7A8_ENST00000529705.2_Missense_Mutation_p.T297M|SLC7A8_ENST00000453702.1_Missense_Mutation_p.T199M|SLC7A8_ENST00000469263.1_Intron NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 402 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TCCAGCAACCGTGACCCCATA 0.542000 22 149 0 0 0.002780 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563531 140563531 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:140563531C>A ENST00000361016.2 + 1 2552 c.1397C>A c.(1396-1398)cCc>cAc p.P466H NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 466 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACAACAGCCCCGCCCTGCAC 0.607000 17 178 1.99824e-07 2.84137e-07 0.004990 1 0 SHANK3 85358 broad.mit.edu 37 22 51160827 51160827 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:51160827G>T ENST00000414786.2 + 21 4751 c.4524G>T c.(4522-4524)ctG>ctT p.L1508L SHANK3_ENST00000262795.3_Silent_p.L1538L|SHANK3_ENST00000445220.2_Silent_p.L1524L F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1538 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TGGGCAGCCTGCTGGACCCTG 0.642000 12 24 3.07112e-06 4.19015e-06 0.000978 1 0 CENPE 1062 broad.mit.edu 37 4 104116363 104116363 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:104116363C>A ENST00000265148.3 - 5 474 c.385G>T c.(385-387)Gta>Tta p.V129L CENPE_ENST00000380026.3_Missense_Mutation_p.V129L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 129 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ATGTAAGATACACGTAAGAGA 0.318000 10 14 2.17888e-05 2.8026e-05 0.006214 1 0 CAND2 23066 broad.mit.edu 37 3 12856747 12856747 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:12856747G>C ENST00000456430.2 + 8 1155 c.1114G>C c.(1114-1116)Gat>Cat p.D372H CAND2_ENST00000295989.5_Missense_Mutation_p.D279H NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 372 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCTGCTGCCCGATTTCCACTG 0.602000 6 53 0 0 0.001168 0 0 HSPA5 3309 broad.mit.edu 37 9 128000949 128000949 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:128000949G>C ENST00000324460.6 - 6 1357 c.1154C>G c.(1153-1155)tCc>tGc p.S385C NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 385 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) TATGCCACGGGATGGTTCCTT 0.463000 Prostate(1;0.17) 26 17 0 0 0.003954 0 0 EYA3 2140 broad.mit.edu 37 1 28316211 28316211 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:28316211G>C ENST00000373871.3 - 15 1655 c.1415C>G c.(1414-1416)tCc>tGc p.S472C EYA3_ENST00000373863.3_Missense_Mutation_p.S426C|EYA3_ENST00000373864.1_Missense_Mutation_p.S315C|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.S419C|EYA3_ENST00000540618.1_Missense_Mutation_p.S426C|EYA3_ENST00000436342.2_Missense_Mutation_p.S346C Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 472 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TCCATACCTGGACTGGATGAG 0.423000 43 65 0 0 0.003610 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634870 70634870 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:70634870C>T ENST00000381269.2 - 2 1023 c.270G>A c.(268-270)ggG>ggA p.G90G SLC8A3_ENST00000528359.1_Silent_p.G90G|SLC8A3_ENST00000356921.2_Silent_p.G90G|SLC8A3_ENST00000357887.3_Silent_p.G90G|SLC8A3_ENST00000534137.1_Silent_p.G90G NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 90 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TGATGGACACCCCAAGGAACA 0.488000 4 41 0 0 0.000248 0 0 SORBS2 8470 broad.mit.edu 37 4 186544274 186544274 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:186544274G>A ENST00000431808.1 - 14 2860 c.2297C>T c.(2296-2298)cCa>cTa p.P766L SORBS2_ENST00000284776.7_Missense_Mutation_p.P766L|SORBS2_ENST00000355634.5_Missense_Mutation_p.P866L|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P670L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 766 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGGAACATCTGGCAGCAGCTC 0.557000 9 167 0 0 0.006214 0 0 DCHS1 8642 broad.mit.edu 37 11 6648581 6648581 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:6648581C>A ENST00000299441.3 - 14 6100 c.5689G>T c.(5689-5691)Ggt>Tgt p.G1897C NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1897 Cadherin 18. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGCTGTACCGGCGCCCAGG 0.607000 5 10 0.000602214 0.000719668 0.000602 1 0 FAT3 120114 broad.mit.edu 37 11 92534237 92534237 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:92534237A>G ENST00000298047.6 + 9 8075 c.8058A>G c.(8056-8058)ccA>ccG p.P2686P FAT3_ENST00000409404.2_Silent_p.P2686P|FAT3_ENST00000525166.1_Silent_p.P2536P Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2686 Cadherin 24. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGGCATCCCAGTAAAGCACT 0.458000 TCGA Ovarian(4;0.039) 3 31 0 0 0.004672 0 0 SHOX 6473 broad.mit.edu 37 X 595382 595382 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:595382G>A ENST00000381578.1 + 3 998 c.307G>A c.(307-309)Gac>Aac p.D103N SHOX_ENST00000334060.3_Missense_Mutation_p.D103N|SHOX_ENST00000381575.1_Missense_Mutation_p.D103N|SHOX_ENST00000554971.1_Missense_Mutation_p.D103N NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 103 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAAGCGCGAGGACGTGAAGTC 0.622000 16 25 0 0 0.008871 0 0 RBBP8 5932 broad.mit.edu 37 18 20572830 20572830 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr18:20572830C>T ENST00000399722.2 + 11 1391 c.1040C>T c.(1039-1041)tCc>tTc p.S347F RBBP8_ENST00000360790.5_Missense_Mutation_p.S347F|RBBP8_ENST00000327155.5_Missense_Mutation_p.S347F|RBBP8_ENST00000399725.2_Missense_Mutation_p.S347F NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 347 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) ACAAGTTTGTCCCCTTCTCTT 0.358000 Homologous recombination 15 40 0 0 0.004007 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148716 20148716 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:20148716T>C ENST00000379607.5 - 6 550 c.347A>G c.(346-348)aAt>aGt p.N116S EIF1AX_ENST00000379593.1_Missense_Mutation_p.N88S NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 116 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 ATCAGTTTCATTGATTTTAGC 0.328000 14 4 0 0 0.002450 0 0 PHGDH 26227 broad.mit.edu 37 1 120266064 120266064 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:120266064G>T ENST00000369407.3 + 2 1761 c.254_splice c.e2+1 p.R85_splice PHGDH_ENST00000369409.4_Splice_Site_p.R119_splice O43175 SERA_HUMAN phosphoglycerate dehydrogenase 119 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) TGCCTGGCCAGGTAAGTCCCT 0.473000 22 39 8.04996e-18 1.34967e-17 0.001882 1 0 SLC39A12 221074 broad.mit.edu 37 10 18266839 18266839 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:18266839C>A ENST00000377369.2 + 5 1033 c.760C>A c.(760-762)Caa>Aaa p.Q254K SLC39A12_ENST00000539911.1_Missense_Mutation_p.Q120K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q254K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q254K NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 254 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AGAACTAGACCAACTCCTCAA 0.338000 25 100 1.5548e-18 2.61984e-18 0.005443 1 0 CHCHD6 84303 broad.mit.edu 37 3 126423156 126423156 + Translation_Start_Site SNP A A C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:126423156A>C ENST00000508789.1 + 1 73 c.1A>C c.(1-3)Atg>Ctg p.M1L CHCHD6_ENST00000290913.3_Start_Codon_SNP_p.M1L Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 6 1 endometrium(2)|large_intestine(3)|lung(3) 8 GCATCTCGCCATGGGGAGCAC 0.731000 4 12 0 0 0.000248 0 0 KMT2C 58508 broad.mit.edu 37 7 151970862 151970862 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:151970862C>A ENST00000355193.2 - 7 1158 c.940G>T c.(940-942)Gcc>Tcc p.A314S KMT2C_ENST00000262189.6_Missense_Mutation_p.A314S lysine (K)-specific methyltransferase 2C AAGGTGCCGGCTCCTGCAGCA 0.438000 6 153 3.59834e-05 4.59333e-05 0.001168 1 0 MROH9 80133 broad.mit.edu 37 1 170955788 170955788 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:170955788C>A ENST00000367759.4 + 10 970 c.816C>A c.(814-816)atC>atA p.I272I MROH9_ENST00000367758.3_Silent_p.I272I NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 p.I272I(1) ATGATAAAATCGCATCTGATG 0.453000 22 55 4.35082e-09 6.6345e-09 0.001523 1 0 SSH1 54434 broad.mit.edu 37 12 109182463 109182463 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:109182463C>T ENST00000326495.5 - 15 2544 c.2451G>A c.(2449-2451)caG>caA p.Q817Q SSH1_ENST00000360239.3_Silent_p.Q505Q NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 817 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCCTGCCTTCTGCAGCTGAA 0.587000 10 71 0 0 0.008291 0 0 SEMG2 6407 broad.mit.edu 37 20 43850431 43850431 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:43850431A>G ENST00000372769.3 + 2 248 c.158A>G c.(157-159)gAc>gGc p.D53G NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 53 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) GGACAAAAAGACCAACAACAT 0.388000 16 37 0 0 0.003163 0 0 NTF3 4908 broad.mit.edu 37 12 5604005 5604005 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:5604005G>T ENST00000423158.3 + 2 876 c.664G>T c.(664-666)Gat>Tat p.D222Y NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.D209Y NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 209 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CAGGGGTATTGATGATAAACA 0.488000 4 54 0.000602214 0.000719668 0.000602 1 0 USP26 83844 broad.mit.edu 37 X 132160640 132160640 + Missense_Mutation SNP G G T rs144039408 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:132160640G>T ENST00000511190.1 - 6 2078 c.1609C>A c.(1609-1611)Cag>Aag p.Q537K USP26_ENST00000370832.1_Missense_Mutation_p.Q537K|USP26_ENST00000406273.1_Missense_Mutation_p.Q537K NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 537 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATGACTTCCTGGTCATTCTTC 0.403000 42 36 9.73076e-26 1.72593e-25 0.006999 1 0 DLGAP3 58512 broad.mit.edu 37 1 35370403 35370403 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:35370403G>T ENST00000373347.1 - 3 850 c.582C>A c.(580-582)gaC>gaA p.D194E DLGAP3_ENST00000235180.4_Missense_Mutation_p.D194E O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 194 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCCCATTATAGTCCCGCTTCC 0.647000 18 22 2.94398e-08 4.35141e-08 0.007413 1 0 MYH7 4625 broad.mit.edu 37 14 23884616 23884616 + Nonsense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:23884616C>A ENST00000355349.3 - 36 5419 c.5257G>T c.(5257-5259)Gag>Tag p.E1753* CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1753 E -> K (in CMH1). 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 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) TTGGCCTTCTCCTCAGCATTC 0.577000 51 81 3.10996e-30 5.57477e-30 0.003610 1 0 NCAPD2 9918 broad.mit.edu 37 12 6624087 6624087 + Splice_Site SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:6624087G>A ENST00000315579.5 + 9 1786 c.e9+1 NCAPD2_ENST00000545962.1_Splice_Site NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GGATGGAGAAGTAGGTGGTCC 0.458000 29 49 0 0 0.002445 0 0 DNAH14 127602 broad.mit.edu 37 1 225155417 225155417 + Nonstop_Mutation SNP A A C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:225155417A>C ENST00000366850.3 + 7 895 c.687A>C c.(685-687)taA>taC p.*229Y DNAH14_ENST00000439375.2_Intron|DNAH14_ENST00000366848.1_Nonstop_Mutation_p.*229Y|DNAH14_ENST00000430092.1_Intron|DNAH14_ENST00000366849.1_Intron|DNAH14_ENST00000400952.3_Intron NM_144989.2 NP_659426.2 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 0 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 TTTATATATAAGAATCTCCTT 0.264000 8 23 0 0 0.004482 0 0 FAM71B 153745 broad.mit.edu 37 5 156589500 156589500 + Silent SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:156589500G>C ENST00000302938.4 - 2 1871 c.1776C>G c.(1774-1776)tcC>tcG p.S592S NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 592 nucleus p.S592S(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCGTCTTCTCGGATGTCATAG 0.512000 78 187 0 0 0.003610 0 0 UNC93A 54346 broad.mit.edu 37 6 167721398 167721398 + Splice_Site SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:167721398G>T ENST00000230256.3 + 7 1283 c.1108_splice c.e7+1 p.A370_splice UNC93A_ENST00000366829.2_Splice_Site_p.A328_splice NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 370 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACAAAACAATGGTGAGTCCCC 0.612000 11 28 4.68919e-08 6.84094e-08 0.008291 1 0 MAP3K8 1326 broad.mit.edu 37 10 30728114 30728114 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:30728114G>T ENST00000263056.1 + 3 943 c.247G>T c.(247-249)Gat>Tat p.D83Y MAP3K8_ENST00000375322.2_Missense_Mutation_p.D83Y|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D83Y|MAP3K8_ENST00000375321.1_Missense_Mutation_p.D83Y NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 83 cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) AACTGTGGAGGATTTGCTTGC 0.408000 19 46 5.26018e-13 8.5225e-13 0.001882 1 0 SLC11A1 6556 broad.mit.edu 37 2 219249930 219249930 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:219249930C>T ENST00000233202.6 + 4 674 c.334C>T c.(334-336)Cgt>Tgt p.R112C SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 112 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTGGCTGCACGTCTGGGCGT 0.642000 7 114 0 0 0.001984 0 0 GABPB1 2553 broad.mit.edu 37 15 50595319 50595319 + Splice_Site SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:50595319T>C ENST00000380877.3 - 4 701 c.276_splice c.e4-1 p.H93_splice GABPB1_ENST00000220429.8_Splice_Site_p.H93_splice|GABPB1_ENST00000396464.3_Splice_Site_p.H93_splice|GABPB1_ENST00000560825.1_Splice_Site_p.H93_splice|GABPB1_ENST00000429662.2_Splice_Site_p.H93_splice|GABPB1_ENST00000359031.4_Splice_Site_p.H93_splice|GABPB1_ENST00000543881.1_Splice_Site_p.H17_splice NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 93 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 ATCAGCACCATGCTACAAAAA 0.318000 17 16 0 0 0.006122 0 0 FRMPD2 143162 broad.mit.edu 37 10 49452849 49452849 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:49452849C>A ENST00000374201.3 - 4 655 c.353G>T c.(352-354)gGg>gTg p.G118V FRMPD2_ENST00000305531.3_Intron|FRMPD2_ENST00000407470.4_Intron NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 118 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AACATGAAACCCTGCTGACCA 0.453000 13 19 1.61879e-10 2.52561e-10 0.001368 1 0 LOC102723335 102723335 broad.mit.edu 37 15 101098995 101098995 + RNA SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:101098995C>A ENST00000559349.1 + 0 114 RP11-526I2.1_ENST00000557839.1_RNA TCCCAGTGCCCACGGTGGCCA 0.667000 6 18 0.00307968 0.00354216 0.003080 1 0 CLIP3 25999 broad.mit.edu 37 19 36508329 36508329 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:36508329G>T ENST00000360535.4 - 12 1702 c.1475C>A c.(1474-1476)cCc>cAc p.P492H AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.P492H NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 492 GoLD. chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCTGTCCCCGGGGGAATCAGT 0.572000 5 75 0.000602214 0.000719668 0.000602 1 0 MYH2 4620 broad.mit.edu 37 17 10427153 10427153 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:10427153G>T ENST00000245503.5 - 36 5608 c.5224C>A c.(5224-5226)Caa>Aaa p.Q1742K MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1742K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1742 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTTGCATTTGGGAAATATCT 0.423000 5 79 0.00116845 0.00137201 0.001168 1 0 NLRP12 91662 broad.mit.edu 37 19 54312855 54312855 + Silent SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:54312855C>A ENST00000324134.6 - 3 2226 c.2058G>T c.(2056-2058)acG>acT p.T686T NLRP12_ENST00000345770.5_Silent_p.T686T|NLRP12_ENST00000391775.3_Silent_p.T686T|NLRP12_ENST00000391773.1_Silent_p.T686T|NLRP12_ENST00000535162.1_Silent_p.T686T|NLRP12_ENST00000391772.1_Silent_p.T686T|NLRP12_ENST00000354278.3_Silent_p.T686T|NLRP12_ENST00000351894.4_Silent_p.T686T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 686 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCACCAACAGCGTGTGCGCTC 0.567000 6 21 8.12818e-05 0.000100706 0.001984 1 0 CDH12 1010 broad.mit.edu 37 5 21751882 21751882 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:21751882G>A ENST00000382254.1 - 15 3435 c.2349C>T c.(2347-2349)ggC>ggT p.G783G RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.G743G|CDH12_ENST00000504376.2_Silent_p.G783G NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 783 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCTCTTCTTCGCCAAACATGT 0.448000 HNSCC(59;0.17) 6 84 0 0 0.001984 0 0 FAM129C 199786 broad.mit.edu 37 19 17653058 17653058 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:17653058G>T ENST00000335393.4 + 11 1515 c.1377G>T c.(1375-1377)ctG>ctT p.L459L FAM129C_ENST00000599164.1_Silent_p.L428L|FAM129C_ENST00000599124.1_Silent_p.L428L|FAM129C_ENST00000601861.1_Silent_p.L428L|FAM129C_ENST00000600871.1_Silent_p.L405L|FAM129C_ENST00000352727.3_Silent_p.L459L|FAM129C_ENST00000300971.2_Silent_p.L459L|FAM129C_ENST00000449408.2_Silent_p.L185L|FAM129C_ENST00000595684.1_Silent_p.L459L|FAM129C_ENST00000332386.5_Silent_p.L459L NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 459 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 TTGGCTTTCTGGGGATGCAGA 0.642000 14 130 1.49906e-05 1.94301e-05 0.002450 1 0 KIAA0100 9703 broad.mit.edu 37 17 26966412 26966412 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:26966412C>T ENST00000528896.2 - 11 1224 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K KIAA0100_ENST00000544884.1_Missense_Mutation_p.E241K|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E241K NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 384 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TGAGAGAATTCCTGGTGCCGG 0.478000 20 31 0 0 0.007413 0 0 PAQR5 54852 broad.mit.edu 37 15 69692415 69692415 + Silent SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:69692415C>T ENST00000340965.3 + 8 1380 c.712C>T c.(712-714)Ctg>Ttg p.L238L PAQR5_ENST00000395407.2_Silent_p.L238L|PAQR5_ENST00000561153.1_Silent_p.L238L|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 238 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CTCTGCACATCTGCCAGAACG 0.567000 19 136 0 0 0.007413 0 0 PTPRH 5794 broad.mit.edu 37 19 55713663 55713663 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:55713663A>G ENST00000376350.3 - 6 936 c.914T>C c.(913-915)gTg>gCg p.V305A PTPRH_ENST00000263434.5_Missense_Mutation_p.V127A|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 305 Fibronectin type-III 4. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGAGCCTCCACTGTCAGGTT 0.552000 16 43 0 0 0.004990 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593728 16593728 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:16593728G>T ENST00000443444.2 + 1 154 c.14G>T c.(13-15)gGt>gTt p.G5V RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G5V|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G5V|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G5V|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G5V|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G5V A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 5 GCCTCCTGGGGTGGAGAAAAG 0.642000 5 15 5.9392e-07 8.30502e-07 0.001168 1 0 SNX19 399979 broad.mit.edu 37 11 130784585 130784585 + Missense_Mutation SNP T T A rs138524806 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:130784585T>A ENST00000265909.4 - 1 1819 c.1250A>T c.(1249-1251)gAg>gTg p.E417V SNX19_ENST00000533214.1_Missense_Mutation_p.E417V|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 417 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TTCAGATGCCTCACCATCTTT 0.552000 11 17 0 0 0.000978 0 0 MED16 10025 broad.mit.edu 37 19 886117 886117 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:886117C>A ENST00000312090.6 - 5 682 c.532G>T c.(532-534)Ggc>Tgc p.G178C MED16_ENST00000269814.4_Missense_Mutation_p.G178C|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.G178C|MED16_ENST00000325464.1_Missense_Mutation_p.G178C|MED16_ENST00000589119.1_Missense_Mutation_p.G178C Q9Y2X0 MED16_HUMAN mediator complex subunit 16 178 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGATCCAGCCCTCCATGGGC 0.682000 3 11 6.4e-05 7.96043e-05 0.004672 1 0 PRODH 5625 broad.mit.edu 37 22 18918540 18918540 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:18918540C>A ENST00000357068.6 - 2 710 c.445G>T c.(445-447)Gac>Tac p.D149Y PRODH_ENST00000420436.1_Missense_Mutation_p.D41Y|PRODH_ENST00000334029.2_Missense_Mutation_p.D41Y NM_016335.4 NP_057419.4 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 149 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) GGGCTCAGGTCCTCCTCCACT 0.627000 20 45 1.9806e-07 2.82823e-07 0.002299 1 0 KDM5B 10765 broad.mit.edu 37 1 202702680 202702680 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:202702680C>T ENST00000367265.3 - 23 4922 c.3758G>A c.(3757-3759)cGa>cAa p.R1253Q KDM5B_ENST00000367264.2_Missense_Mutation_p.R1289Q NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1253 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.R1253Q(1) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 AATCATATATCGAAGTGCATC 0.507000 7 85 0 0 0.001984 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146070757 146070757 + Silent SNP T T A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:146070757T>A ENST00000394413.3 - 4 951 c.381A>T c.(379-381)ccA>ccT p.P127P PPP2R2B_ENST00000394411.4_Silent_p.P127P|PPP2R2B_ENST00000394414.1_Silent_p.P193P|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Silent_p.P127P|PPP2R2B_ENST00000508545.2_Silent_p.P116P|PPP2R2B_ENST00000504198.1_Silent_p.P133P|PPP2R2B_ENST00000453001.1_Silent_p.P127P|PPP2R2B_ENST00000394410.2_Silent_p.P116P|PPP2R2B_ENST00000336640.6_Silent_p.P130P|PPP2R2B_ENST00000394409.3_Silent_p.P185P Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 127 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTAGCCTTCTGGCCTCTTAT 0.517000 31 58 0 0 0.002836 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37756794 37756794 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:37756794C>A ENST00000330843.4 - 1 178 c.166G>T c.(166-168)Gtg>Ttg p.V56L RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.V56L NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 56 C2. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CGCTCCGACACGGAGGTGGCG 0.751000 9 27 0.00448238 0.00513797 0.004482 1 0 MYH3 4621 broad.mit.edu 37 17 10536009 10536009 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr17:10536009C>A ENST00000583535.1 - 34 4827 c.4740G>T c.(4738-4740)aaG>aaT p.K1580N MYH3_ENST00000226209.7_Missense_Mutation_p.K1580N NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1580 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCTCTTCATCCTTCTCGGCGA 0.498000 13 216 5.50884e-06 7.39633e-06 0.001368 1 0 LELP1 149018 broad.mit.edu 37 1 153177365 153177365 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:153177365G>A ENST00000368747.1 + 2 292 c.182G>A c.(181-183)tGc>tAc p.C61Y NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 61 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCTGCCCTGCCCCTCGCAG 0.592000 25 46 0 0 0.003954 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 8 5.4927e-09 8.33802e-09 0.004482 1 0 POM121L12 285877 broad.mit.edu 37 7 53103449 53103449 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:53103449C>A ENST00000408890.4 + 1 101 c.85C>A c.(85-87)Ctg>Atg p.L29M NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 29 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCGACGCCCTGGCGGCTCC 0.701000 12 27 6.40141e-05 7.96043e-05 0.000978 1 0 APOL5 80831 broad.mit.edu 37 22 36122751 36122751 + Silent SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:36122751T>C ENST00000249044.2 + 3 636 c.636T>C c.(634-636)caT>caC p.H212H NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 212 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CAACATCACATGAGGCTTTCG 0.448000 39 116 0 0 0.005524 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45501863 45501863 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:45501863C>A ENST00000359600.5 - 9 2208 c.2003G>T c.(2002-2004)gGc>gTc p.G668V NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 668 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TTGACCCAGGCCCATCAGTGC 0.567000 24 36 7.87624e-14 1.28849e-13 0.002780 1 0 HOXA10 3206 broad.mit.edu 37 7 27213368 27213368 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:27213368G>T ENST00000283921.4 - 1 557 c.558C>A c.(556-558)gcC>gcA p.A186A 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 186 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 GAGCCAGTTCGGCGGCGGTGG 0.672000 6 12 0.00116845 0.00137201 0.001168 1 0 DST 667 broad.mit.edu 37 6 56483722 56483722 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:56483722G>C ENST00000370765.6 - 23 5217 c.5110C>G c.(5110-5112)Cta>Gta p.L1704V DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1067 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTTGTTGTAGCTGAACTTTC 0.408000 40 72 0 0 0.005524 0 0 COL4A6 1288 broad.mit.edu 37 X 107418907 107418907 + Missense_Mutation SNP C C A rs140519216 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chrX:107418907C>A ENST00000334504.7 - 29 3040 c.2807G>T c.(2806-2808)cGt>cTt p.R936L COL4A6_ENST00000394872.2_Missense_Mutation_p.R937L|COL4A6_ENST00000545689.1_Missense_Mutation_p.R936L|COL4A6_ENST00000372216.4_Missense_Mutation_p.R937L|COL4A6_ENST00000538570.1_Missense_Mutation_p.R936L NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 937 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.R936L(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 AGTACCAGCACGTCCAGATGG 0.428000 Alport syndrome with Diffuse Leiomyomatosis 41 7 7.05121e-23 1.22488e-22 0.002522 1 0 TMEM168 64418 broad.mit.edu 37 7 112407566 112407566 + Missense_Mutation SNP C C G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr7:112407566C>G ENST00000312814.5 - 5 2340 c.1780G>C c.(1780-1782)Gaa>Caa p.E594Q TMEM168_ENST00000454074.1_Missense_Mutation_p.E594Q NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 594 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 CAGTTATATTCTACCCAGTCT 0.433000 13 29 0 0 0.002450 0 0 UNC5C 8633 broad.mit.edu 37 4 96163625 96163625 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr4:96163625G>T ENST00000453304.1 - 7 1411 c.1063C>A c.(1063-1065)Ctc>Atc p.L355I UNC5C_ENST00000506749.1_Missense_Mutation_p.L355I NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 355 TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGCAAGACGAGGCCGTCGCAG 0.542000 8 15 1.06961e-07 1.54043e-07 0.003080 1 0 RALGPS2 55103 broad.mit.edu 37 1 178861370 178861370 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:178861370G>T ENST00000367635.3 + 15 1591 c.1253G>T c.(1252-1254)aGa>aTa p.R418I RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Missense_Mutation_p.R383I|RALGPS2_ENST00000477383.1_Intron NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 418 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AACAGGAACAGATTATACCAT 0.393000 11 28 3.07112e-06 4.19015e-06 0.000978 1 0 DST 667 broad.mit.edu 37 6 56501375 56501375 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:56501375C>T ENST00000370754.5 - 22 2940 c.2941G>A c.(2941-2943)Gag>Aag p.E981K DST_ENST00000370765.6_Missense_Mutation_p.E477K|DST_ENST00000370769.4_Missense_Mutation_p.E803K|DST_ENST00000446842.2_Missense_Mutation_p.E477K|DST_ENST00000312431.6_Missense_Mutation_p.E803K|DST_ENST00000361203.3_Missense_Mutation_p.E803K|DST_ENST00000244364.6_Missense_Mutation_p.E477K|DST_ENST00000370788.2_Missense_Mutation_p.E803K|DST_ENST00000421834.2_Missense_Mutation_p.E803K|DST_ENST00000518935.1_Missense_Mutation_p.E477K Q03001 DYST_HUMAN dystonin 803 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTGTGTTCTCCTTTATGTGC 0.418000 5 93 0 0 0.000602 0 0 USH2A 7399 broad.mit.edu 37 1 216390757 216390757 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:216390757A>T ENST00000366943.2 - 15 3515 c.3129T>A c.(3127-3129)gaT>gaA p.D1043E USH2A_ENST00000366942.3_Missense_Mutation_p.D1043E|USH2A_ENST00000307340.3_Missense_Mutation_p.D1043E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1043 Laminin EGF-like 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATTGTTGACATCCAAGTGGC 0.448000 HNSCC(13;0.011) 9 22 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179578033 179578033 + Missense_Mutation SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:179578033A>G ENST00000589042.1 - 93 27052 c.26828T>C c.(26827-26829)gTt>gCt p.V8943A TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8626A|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7699A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8626 Ig-like 72. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCATTACAACTGAGGAGCC 0.418000 4 11 0 0 0.000248 0 0 RNF113B 140432 broad.mit.edu 37 13 98829015 98829015 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr13:98829015G>C ENST00000267291.6 - 1 504 c.476C>G c.(475-477)cCc>cGc p.P159R FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 159 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CGTGTCCTTGGGCTTCAGGTA 0.647000 19 54 0 0 0.006122 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169149 32169149 + Missense_Mutation SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:32169149G>A ENST00000375023.3 - 22 4022 c.3884C>T c.(3883-3885)cCc>cTc p.P1295L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1295 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGCCAGGGAGGGCCCCCACTC 0.642000 13 28 0 0 0.001368 0 0 SI 6476 broad.mit.edu 37 3 164732923 164732923 + Silent SNP A A G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:164732923A>G ENST00000264382.3 - 33 4049 c.3987T>C c.(3985-3987)atT>atC p.I1329I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1329 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGCCCAACAAATGTCATTGG 0.318000 HNSCC(35;0.089) 12 16 0 0 0.002450 0 0 XYLT1 64131 broad.mit.edu 37 16 17294340 17294340 + Splice_Site SNP T T G TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr16:17294340T>G ENST00000261381.6 - 4 1169 c.1086_splice c.e4+1 p.K362_splice NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 362 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCTCTCACCTTGTCCACGTG 0.582000 6 89 0 0 0.001168 0 0 ANAPC5 51433 broad.mit.edu 37 12 121758194 121758194 + Silent SNP G G A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:121758194G>A ENST00000261819.3 - 12 1630 c.1509C>T c.(1507-1509)caC>caT p.H503H ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Silent_p.H391H|ANAPC5_ENST00000541887.1_Silent_p.H490H|ANAPC5_ENST00000535482.1_Silent_p.H169H|ANAPC5_ENST00000344395.4_Silent_p.H391H NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 503 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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 anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TTACCTGGGCGTGCTGACTAT 0.368000 6 44 0 0 0.001984 0 0 PHIP 55023 broad.mit.edu 37 6 79735767 79735767 + Missense_Mutation SNP T T C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr6:79735767T>C ENST00000275034.4 - 8 882 c.715A>G c.(715-717)Atg>Gtg p.M239V NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 239 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GCTGCTATCATGGTATTCTCA 0.433000 21 43 0 0 0.001523 0 0 PRUNE2 158471 broad.mit.edu 37 9 79267540 79267540 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:79267540G>C ENST00000428286.1 - 11 8539 c.7339C>G c.(7339-7341)Cca>Gca p.P2447A PRUNE2_ENST00000443509.2_Missense_Mutation_p.P55A|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P70A|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2806A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2806 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTGATATTTGGGGCTGTGAGC 0.393000 57 73 0 0 0.003610 0 0 ZNF761 388561 broad.mit.edu 37 19 53950521 53950521 + RNA SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:53950521G>C ENST00000454407.1 + 0 453 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AGGAGTCAGGGATGGCTTTTT 0.433000 18 51 0 0 0.007413 0 0 IFNL3 282617 broad.mit.edu 37 19 39734506 39734506 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:39734506G>T ENST00000413851.2 - 4 488 c.450C>A c.(448-450)cgC>cgA p.R150R NM_172139.2 NP_742151.2 interferon, lambda 3 AATGGTGGAGGCGGCCCCGGG 0.692000 22 91 2.98393e-07 4.22515e-07 0.002780 1 0 SIRPD 128646 broad.mit.edu 37 20 1532360 1532360 + Missense_Mutation SNP C C A rs141059543 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr20:1532360C>A ENST00000381623.3 - 2 1587 c.398G>T c.(397-399)cGg>cTg p.R133L SIRPD_ENST00000381621.1_Missense_Mutation_p.R133L Q9H106 SIRPD_HUMAN signal-regulatory protein delta 133 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 CTGAGTGCCCCGACCTGATTG 0.443000 16 34 1.3612e-06 1.87235e-06 0.003163 1 0 NUP107 57122 broad.mit.edu 37 12 69115750 69115750 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr12:69115750G>C ENST00000229179.4 + 16 1773 c.1441G>C c.(1441-1443)Gaa>Caa p.E481Q NUP107_ENST00000539906.1_Missense_Mutation_p.E452Q|NUP107_ENST00000378905.2_Missense_Mutation_p.E330Q NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 481 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) ACTCCCTAGAGAATATCTGGG 0.428000 25 34 0 0 0.004656 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968469 99968469 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:99968469G>T ENST00000298999.3 + 5 901 c.598G>T c.(598-600)Gac>Tac p.D200Y R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D200Y|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like AGCATTTGAAGACAAAGATTT 0.388000 10 33 1.76689e-08 2.64641e-08 0.006214 1 0 LMX1A 4009 broad.mit.edu 37 1 165182882 165182882 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:165182882C>A ENST00000342310.3 - 5 1047 c.665G>T c.(664-666)aGg>aTg p.R222M LMX1A_ENST00000294816.2_Missense_Mutation_p.R222M|LMX1A_ENST00000367893.4_Missense_Mutation_p.R222M NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTATACCTTCCTGCAGGGCTT 0.562000 37 104 1.90571e-15 3.14816e-15 0.004289 1 0 OR9G1 390174 broad.mit.edu 37 11 56468651 56468651 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:56468651C>A ENST00000312153.1 + 1 788 c.788C>A c.(787-789)tCt>tAt p.S263Y NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 CTCCCCAGATCTAGCTATTCT 0.433000 15 178 1.3612e-06 1.87235e-06 0.003163 1 0 PDE4A 5141 broad.mit.edu 37 19 10577915 10577915 + Missense_Mutation SNP C C T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:10577915C>T ENST00000380702.2 + 16 2213 c.2213C>T c.(2212-2214)tCg>tTg p.S738L PDE4A_ENST00000352831.6_Missense_Mutation_p.S760L|PDE4A_ENST00000440014.2_Missense_Mutation_p.S699L|PDE4A_ENST00000293683.5_Missense_Mutation_p.S734L|PDE4A_ENST00000344979.3_Missense_Mutation_p.S521L|PDE4A_ENST00000592685.1_Missense_Mutation_p.S738L P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 760 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding p.S521L(1)|p.S734L(1)|p.S699L(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCCCAGGAGTCGTTGGAAGTT 0.607000 5 58 0 0 0.000602 0 0 BRSK1 84446 broad.mit.edu 37 19 55798406 55798406 + Silent SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:55798406G>T ENST00000309383.1 + 2 445 c.168G>T c.(166-168)acG>acT p.T56T BRSK1_ENST00000585418.1_Silent_p.T56T|BRSK1_ENST00000590333.1_Silent_p.T72T NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 56 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ACTGCATCACGGGTCAGAAGG 0.637000 7 86 1.12685e-05 1.48339e-05 0.004482 1 0 GPR17 2840 broad.mit.edu 37 2 128409091 128409091 + Missense_Mutation SNP A A T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:128409091A>T ENST00000544369.1 + 4 1477 c.866A>T c.(865-867)cAc>cTc p.H289L LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.H289L|GPR17_ENST00000272644.3_Missense_Mutation_p.H289L|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 289 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TACGTGCTGCACTACCGCAGC 0.652000 18 33 0 0 0.004990 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588554 20588554 + RNA SNP C C G rs112526901 by1000genomes TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr15:20588554C>G ENST00000428453.1 - 0 4196 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTGGAAAGCGGTTGCAGAA 0.473000 5 74 0 0 0.001984 0 0 NLRP3 114548 broad.mit.edu 37 1 247593036 247593036 + Missense_Mutation SNP G G C TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:247593036G>C ENST00000366497.2 + 5 3086 c.2306G>C c.(2305-2307)gGc>gCc p.G769A NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.G769A|NLRP3_ENST00000336119.3_Missense_Mutation_p.G769A|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.G769A NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 826 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGCATCCTGGCTGTAACATT 0.498000 4 71 0 0 0.000248 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141507 11141507 + Missense_Mutation SNP G G T TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:11141507G>T ENST00000358026.2 + 25 3768 c.3484G>T c.(3484-3486)Ggc>Tgc p.G1162C SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1162 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGGGGGGCTCGGCCTGAACCT 0.607000 """F, N, Mis""" NSCLC 11 8 3.86212e-05 4.89299e-05 0.008291 1 0 TBC1D2 55357 broad.mit.edu 37 9 101014106 101014106 + Missense_Mutation SNP C C A TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:101014106C>A ENST00000375066.5 - 2 563 c.472G>T c.(472-474)Gcc>Tcc p.A158S TBC1D2_ENST00000375064.1_Missense_Mutation_p.A158S|TBC1D2_ENST00000342112.5_Intron NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 158 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCAGCCAGGGCGGCATCAGGG 0.637000 7 55 0.00198382 0.00230533 0.001984 1 0 HIAT1 64645 broad.mit.edu 37 1 100544036 100544037 + Frame_Shift_Del DEL CC CC - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:100544036_100544037delCC ENST00000370152.3 + 10 1170_1171 c.1034_1035delCC c.(1033-1035)gfs p.A345fs RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 345 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) GCAGTAGCAGCCATGTCTAGCA 0.426 7 80 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)gcfs p.S277fs SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 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) ATCGTAAGGCTTTTTTTTTCC 0.433 7 152 --- --- --- --- GTDC1 79712 broad.mit.edu 37 2 144709595 144709595 + Frame_Shift_Del DEL T T - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:144709595delT ENST00000409214.1 - 11 1525 c.1247delA c.(1246-1248)cgfs p.Q416fs AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000409298.1_Frame_Shift_Del_p.Q298fs|GTDC1_ENST00000241391.5_Frame_Shift_Del_p.Q331fs|GTDC1_ENST00000344850.4_Frame_Shift_Del_p.Q416fs|GTDC1_ENST00000392867.3_Frame_Shift_Del_p.Q331fs|GTDC1_ENST00000392869.1_Frame_Shift_Del_p.Q416fs|GTDC1_ENST00000463875.2_Frame_Shift_Del_p.Q287fs|GTDC1_ENST00000542155.1_Frame_Shift_Del_p.Q416fs NM_001006636.3 NP_001006637.1 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 416 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) GCAGAAATTCTGGAGCCTTTT 0.333 24 42 --- --- --- --- PLCL1 5334 broad.mit.edu 37 2 198966044 198966044 + Frame_Shift_Del DEL G G - rs77860458 byFrequency TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr2:198966044delG ENST00000428675.1 + 4 3353 c.2955delG c.(2953-2955)gcfs p.A985fs PLCL1_ENST00000437704.2_Frame_Shift_Del_p.A887fs NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 985 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TAGAAATGGCGGACACAGTCC 0.343 37 57 --- --- --- --- EPHA6 285220 broad.mit.edu 37 3 97251210 97251210 + Frame_Shift_Del DEL G G - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr3:97251210delG ENST00000389672.5 + 11 2247 c.2209delG c.(2209-2211)gafs p.G737fs EPHA6_ENST00000442602.2_Frame_Shift_Del_p.G103fs|EPHA6_ENST00000514100.1_Frame_Shift_Del_p.G129fs|EPHA6_ENST00000502694.1_Frame_Shift_Del_p.G129fs NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 642 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AGGTGAATTTGGAGAAGTCTG 0.388 8 63 --- --- --- --- PCDHGB4 8641 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr5:140767492_140767497delTGCCAG ENST00000519479.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)ctg>c p.LPV14del PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 p.P15_V16delPV(1) endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 4 --- --- --- --- LZTS1 11178 broad.mit.edu 37 8 20110819 20110819 + Frame_Shift_Del DEL C C - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr8:20110819delC ENST00000381569.1 - 3 980 c.623delG c.(622-624)gcfs p.G208fs LZTS1_ENST00000265801.6_Frame_Shift_Del_p.G208fs|LZTS1_ENST00000522290.1_Frame_Shift_Del_p.G208fs Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 208 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GTGGGCGGAGCCCCCAAAACG 0.637 47 82 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974782 21974783 + Frame_Shift_Ins INS - - GA rs138677674 TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:21974782_21974783insGA ENST00000304494.5 - 1 314_315 c.44_45insTC c.(43-45)tctfs p.S15fs CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.S15fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.S15fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.S15fs|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 15 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.W15*(7)|p.S12fs*6(1)|p.L16fs*9(1)|p.0(1)|p.W15L(1)|p.S7_A19del(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCGTGGCCAGCCAGTCAGCCGA 0.757 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 26 --- --- --- --- ZNF484 83744 broad.mit.edu 37 9 95609868 95609871 + Frame_Shift_Del DEL TACT TACT - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr9:95609868_95609871delTACT ENST00000395505.2 - 3 1182_1185 c.1090_1093delAGTA c.(1090-1095)tgfs p.SM364fs ZNF484_ENST00000332591.6_Frame_Shift_Del_p.SM364fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.SM402fs|ZNF484_ENST00000375495.3_Frame_Shift_Del_p.SM400fs NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TTCTGATGCATACTTAGTGTTGAT 0.338 14 22 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30315934 30315935 + Frame_Shift_Del DEL AA AA - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr10:30315934_30315935delAA ENST00000375377.1 - 3 3243_3244 c.3142_3143delTT c.(3142-3144)afs p.L1048fs NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1048 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CACAGACCGTAAGTCTGGAGCT 0.589 35 131 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65266579 65266582 + RNA DEL CAGA CAGA - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:65266579_65266582delCAGA ENST00000534336.1 + 0 1347_1350 NR_002819.2 GAGGAAACCGCAGATAAGTTTTTT 0.441 14 21 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 4 3 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 3 4 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221270 1221279 + Frame_Shift_Del DEL GAGAACATCG GAGAACATCG - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:1221270_1221279delGAGAACATCG ENST00000326873.7 + 6 1966_1975 c.793_802delGAGAACATCG c.(793-804)ggfs p.ENIG265fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 265 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGTTGTTTGAGAACATCGGGAAGGGGAG 0.605 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 8 14 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 4 2 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18389298 18389318 + Splice_Site DEL ACAGGAGCAAAGCTTACCTTG ACAGGAGCAAAGCTTACCTTG - TCGA-78-7148-01A-11D-2036-08 TCGA-78-7148-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3061bb3-7a2d-4aa1-8b7b-420e97395323 8d191fa8-2509-4103-ac4a-d2bf44dedffb g.chr22:18389298_18389318delACAGGAGCAAAGCTTACCTTG ENST00000441493.2 - 2 613_617 c.264_splice c.e2+1 p.T87_splice MICAL3_ENST00000383094.3_Splice_Site_p.T87_splice|MICAL3_ENST00000585038.1_Splice_Site_p.T87_splice|MICAL3_ENST00000414725.2_Splice_Site_p.T87_splice|MICAL3_ENST00000444520.1_Splice_Site_p.T87_splice|MICAL3_ENST00000207726.7_Splice_Site_p.T87_splice|MICAL3_ENST00000400561.2_Splice_Site_p.T87_splice|MICAL3_ENST00000429452.1_Splice_Site_p.T87_splice NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 87 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CCAGGGCCCAACAGGAGCAAAGCTTACCTTGGTGTTAGTGC 0.498 24 104 --- --- --- ---