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 MMRN1 22915 broad.mit.edu 37 4 90874520 90874520 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:90874520A>C ENST00000394980.1 + 9 3957 c.3638A>C c.(3637-3639)aAg>aCg p.K1213T MMRN1_ENST00000508372.1_Missense_Mutation_p.K955T|MMRN1_ENST00000264790.2_Missense_Mutation_p.K1213T|MMRN1_ENST00000394981.1_Missense_Mutation_p.K516T Q13201 MMRN1_HUMAN multimerin 1 1213 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATTCCAGCCAAGTTTCCCCCT 0.363000 22 64 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72976888 72976888 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:72976888A>C ENST00000553530.1 + 14 1199 c.992A>C c.(991-993)aAa>aCa p.K331T RGS6_ENST00000554782.1_Missense_Mutation_p.K192T|RGS6_ENST00000556437.1_Missense_Mutation_p.K331T|RGS6_ENST00000434263.2_Missense_Mutation_p.K262T|RGS6_ENST00000406236.4_Missense_Mutation_p.K331T|RGS6_ENST00000355512.6_Missense_Mutation_p.K331T|RGS6_ENST00000553525.1_Missense_Mutation_p.K331T|RGS6_ENST00000407322.4_Missense_Mutation_p.K331T|RGS6_ENST00000343854.6_Missense_Mutation_p.K294T|RGS6_ENST00000555571.1_Missense_Mutation_p.K331T|RGS6_ENST00000404301.2_Missense_Mutation_p.K331T|RGS6_ENST00000402788.2_Missense_Mutation_p.K331T NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 331 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGCGAGTAAAAAGATGGGGC 0.468000 18 162 0 0 1 0 0 BPHL 670 broad.mit.edu 37 6 3127533 3127533 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:3127533C>A ENST00000380368.2 + 4 862 c.218C>A c.(217-219)aCg>aAg p.T73K BPHL_ENST00000380379.5_Missense_Mutation_p.T90K|BPHL_ENST00000380375.3_Missense_Mutation_p.T73K|BPHL_ENST00000434640.1_Missense_Mutation_p.T73K Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 90 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) AAGCTCTTCACGGTGGTCGCC 0.493000 8 82 0.000157383 0.000176531 1 1 0 BMS1 9790 broad.mit.edu 37 10 43326451 43326451 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:43326451G>C ENST00000374518.4 + 23 3819 c.3756G>C c.(3754-3756)aaG>aaC p.K1252N NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1252 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGCGGCAGAAGGACCTCAGGA 0.527000 4 16 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152757200 152757200 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:152757200C>A ENST00000367255.5 - 33 4787 c.4186G>T c.(4186-4188)Gct>Tct p.A1396S SYNE1_ENST00000413186.2_Missense_Mutation_p.A1396S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1462S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1386S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1396S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1396 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTTCTCAGCCTGGACTGCA 0.388000 HNSCC(10;0.0054) 8 67 0.00307968 0.00326084 1 1 0 CARD11 84433 broad.mit.edu 37 7 2984046 2984046 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:2984046C>T ENST00000396946.4 - 5 887 c.484G>A c.(484-486)Gag>Aag p.E162K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 162 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCTTCTTCTCATCCTCCAGC 0.577000 Mis DLBCL 34 78 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65119459 65119459 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:65119459C>T ENST00000371073.2 + 11 1559 c.1559C>T c.(1558-1560)cCa>cTa p.P520L CACHD1_ENST00000290039.5_Missense_Mutation_p.P469L|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 520 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTTATGCACCCATCTCTTACC 0.338000 13 211 0 0 1 0 0 TLDC2 140711 broad.mit.edu 37 20 35515916 35515916 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:35515916T>C ENST00000217320.3 + 5 541 c.497T>C c.(496-498)aTg>aCg p.M166T TLDC2_ENST00000602922.1_Missense_Mutation_p.M166T NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 GATTCACTGATGATGGGCAGT 0.542000 OREG0025911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 111 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238725845 238725845 + Nonsense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238725845C>T ENST00000316997.4 + 3 418 c.286C>T c.(286-288)Cag>Tag p.Q96* RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Nonsense_Mutation_p.Q96* NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 95 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TACTCAGTTTCAGTCAAGTGA 0.318000 16 47 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971108 21971108 + Missense_Mutation SNP C C T rs11552822 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:21971108C>T ENST00000579755.1 - 2 585 c.293G>A c.(292-294)cGa>cAa p.R98Q CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 H -> P (in CMM2).|H -> Q (in CMM2). 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.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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) CGGGCAGCGTCGTGCACGGGT 0.741000 D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 16 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050182 42050182 + Missense_Mutation SNP G G T rs142189176 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:42050182G>T ENST00000372584.1 - 3 1301 c.287C>A c.(286-288)cCg>cAg p.P96Q HIVEP3_ENST00000372583.1_Missense_Mutation_p.P96Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P96Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P96Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 96 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGGTGCTGCGGAAGCTGTGA 0.587000 63 183 1.35869e-18 2.20104e-18 1 1 0 SPDYE3 441272 broad.mit.edu 37 7 99912179 99912179 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:99912179C>A ENST00000332397.6 + 6 1191 c.1007C>A c.(1006-1008)cCg>cAg p.P336Q SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 336 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCCAGCCCCCCGCGTAGGTCC 0.577000 38 76 1.03484e-13 1.55844e-13 1 1 0 CTNND2 1501 broad.mit.edu 37 5 11364993 11364993 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:11364993C>T ENST00000304623.8 - 8 1376 c.1187G>A c.(1186-1188)cGa>cAa p.R396Q CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R305Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R59Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R396Q NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 396 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTATGAGGCTCGGGAACCAGC 0.488000 7 76 0 0 1 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022202 97022202 + Silent SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:97022202A>T ENST00000216277.8 + 18 1903 c.1683A>T c.(1681-1683)ccA>ccT p.P561P PAPOLA_ENST00000392990.2_Silent_p.P561P NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 561 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) GTCCTGCTCCAGCTGTAACAG 0.323000 8 97 0 0 1 0 0 MIR31HG 554202 broad.mit.edu 37 9 21455696 21455696 + RNA SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:21455696C>T ENST00000304425.3 - 0 689 NR_027054.1 CAGCCAGTTGCAGAAGGCCCA 0.502000 3 18 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52054022 52054022 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:52054022C>A ENST00000340057.1 + 3 445 c.400C>A c.(400-402)Cgg>Agg p.R134R NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 134 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CAACTCCTTCCGGCTGGAGAA 0.602000 11 65 6.40141e-05 7.34365e-05 1 1 0 PRKAG1 5571 broad.mit.edu 37 12 49398789 49398789 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:49398789T>A ENST00000548065.1 - 7 824 c.368A>T c.(367-369)cAg>cTg p.Q123L RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q72L|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q39L|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q91L|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q132L P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 123 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 AAAGGAGTCCTGGAGATACAC 0.463000 44 73 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33469093 33469093 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:33469093C>A ENST00000442241.4 - 2 106 c.67G>T c.(67-69)Gat>Tat p.D23Y NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.D23Y|NLE1_ENST00000586869.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 23 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CCGCCCTCATCCTGGAACTGC 0.687000 7 20 0.00448238 0.00471961 1 1 0 ACE 1636 broad.mit.edu 37 17 61557855 61557855 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:61557855C>A ENST00000290866.4 + 5 837 c.813C>A c.(811-813)atC>atA p.I271I ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.I271I|ACE_ENST00000538928.1_Silent_p.I271I NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 271 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACAGATACATCAACCTCAGGG 0.612000 22 96 0.000375601 0.000412125 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92730776 92730776 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:92730776G>C ENST00000379958.2 - 3 4904 c.4635C>G c.(4633-4635)atC>atG p.I1545M NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1545 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTTCATTGATTCCATATT 0.388000 19 73 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20370884 20370884 + Missense_Mutation SNP C C G rs148051428 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:20370884C>G ENST00000302451.4 - 12 1760 c.1512G>C c.(1510-1512)ttG>ttC p.L504F NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 504 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GCTCAACAGACAACAGCTATG 0.443000 13 84 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31359339 31359339 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:31359339C>A ENST00000542188.1 - 5 909 c.596G>T c.(595-597)aGa>aTa p.R199I TRPM1_ENST00000256552.6_Missense_Mutation_p.R182I|TRPM1_ENST00000397795.2_Missense_Mutation_p.R160I NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 160 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AACCCGGCCTCTGGACTTGGA 0.488000 14 89 2.62699e-14 4.00404e-14 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99753654 99753654 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:99753654C>A ENST00000370185.3 + 2 853 c.356C>A c.(355-357)gCa>gAa p.A119E LPPR4_ENST00000457765.1_Missense_Mutation_p.A119E NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 119 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACCCAGGAGGCAATTCCATTC 0.438000 32 97 8.16721e-17 1.29172e-16 1 1 0 SHOX2 6474 broad.mit.edu 37 3 157823778 157823778 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:157823778A>G ENST00000389589.4 - 1 171 c.36T>C c.(34-36)ttT>ttC p.F12F RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Silent_p.F12F|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Silent_p.F12F NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 12 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTTTCTGGTCAAAAGACTTGG 0.627000 14 54 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188604 32188604 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32188604T>C ENST00000375023.3 - 5 989 c.851A>G c.(850-852)cAg>cGg p.Q284R NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 284 EGF-like 7; calcium-binding (Potential). Q -> H (in dbSNP:rs520803). 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 ATTCTGACACTGGTGGCTGAC 0.557000 14 117 0 0 1 0 0 LOC349160 349160 broad.mit.edu 37 7 136848872 136848872 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:136848872G>T ENST00000439694.1 - 0 164 AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA GTCTACCTGAGGCTGTTGGTC 0.498000 6 25 0.0215528 0.0220486 1 1 0 FYB 2533 broad.mit.edu 37 5 39202342 39202342 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:39202342C>T ENST00000351578.6 - 2 911 c.721G>A c.(721-723)Gca>Aca p.A241T FYB_ENST00000505428.1_Missense_Mutation_p.A241T|FYB_ENST00000540520.1_Missense_Mutation_p.A251T|FYB_ENST00000515010.1_Missense_Mutation_p.A241T|FYB_ENST00000512982.1_Missense_Mutation_p.A241T NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 241 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TCTTCCCTTGCTGGTTTTAAA 0.522000 238 84 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35974241 35974241 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:35974241G>T ENST00000297866.5 + 8 1404 c.1338G>T c.(1336-1338)acG>acT p.T446T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 446 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTCCTGTGACGTACCACTTTA 0.353000 14 33 4.3838e-07 5.53281e-07 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48916967 48916967 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:48916967C>A ENST00000311378.4 + 2 846 c.318C>A c.(316-318)ccC>ccA p.P106P WFIKKN2_ENST00000426127.1_Silent_p.P13P NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 106 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGGGCATGCCCAAGGAGGCCA 0.587000 9 25 0.000274275 0.000301384 1 1 0 SRRM3 222183 broad.mit.edu 37 7 75894095 75894095 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:75894095C>T ENST00000388802.4 + 9 896 c.687C>T c.(685-687)tcC>tcT p.S229S SRRM3_ENST00000326382.8_Silent_p.S229S serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 CTCGAAGCTCCAAGTGCAAAA 0.572000 12 37 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 402006 402006 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:402006T>A ENST00000256509.2 + 12 1847 c.1205T>A c.(1204-1206)aTc>aAc p.I402N CHL1_ENST00000397491.2_Missense_Mutation_p.I386N NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 386 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.I402N(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CCCAGGGAAATCAGTTTTACC 0.388000 16 81 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777145 123777145 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:123777145G>T ENST00000321355.2 + 1 37 c.7G>T c.(7-9)Gta>Tta p.V3L NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AAGAATGGGTGTAAAAAACCA 0.378000 27 80 2.79863e-10 3.90363e-10 1 1 0 TBC1D9 23158 broad.mit.edu 37 4 141555266 141555266 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:141555266A>C ENST00000442267.2 - 16 2656 c.2582T>G c.(2581-2583)cTg>cGg p.L861R NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 861 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATACTGTTCCAGGTAGGGCAG 0.552000 12 46 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155851068 155851068 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:155851068G>C ENST00000368324.4 + 4 1318 c.1065G>C c.(1063-1065)ttG>ttC p.L355F SYT11_ENST00000539162.1_Missense_Mutation_p.L48F NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 355 C2 2. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) AGTGCACTTTGAACCCCATCT 0.483000 138 421 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640545 99640545 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:99640545G>A ENST00000547776.2 - 13 1853 c.1854C>T c.(1852-1854)tcC>tcT p.S618S ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.S618S|ANKS1B_ENST00000547010.1_Silent_p.S198S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 618 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GATTTTCAGGGGACTCACAGG 0.468000 17 144 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31614183 31614183 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:31614183T>A ENST00000319386.3 + 7 1418 c.425T>A c.(424-426)aTa>aAa p.I142K CCDC129_ENST00000407970.3_Missense_Mutation_p.I142K|CCDC129_ENST00000409210.1_Missense_Mutation_p.I50K|CCDC129_ENST00000451887.2_Missense_Mutation_p.I168K|CCDC129_ENST00000482748.1_3'UTR Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 142 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TTTTGGGAGATAGATCCAGTG 0.448000 27 182 0 0 1 0 0 HARS2 23438 broad.mit.edu 37 5 140077256 140077256 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140077256G>T ENST00000230771.3 + 11 1523 c.1300G>T c.(1300-1302)Gat>Tat p.D434Y HARS2_ENST00000448069.2_Missense_Mutation_p.D262Y|HARS2_ENST00000437649.2_Missense_Mutation_p.D360Y|HARS2_ENST00000435019.2_Missense_Mutation_p.D394Y|HARS2_ENST00000508522.1_Missense_Mutation_p.D409Y|HARS2_ENST00000432671.2_Missense_Mutation_p.D320Y NM_012208.2 NP_036340.1 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2, mitochondrial 434 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity p.D434N(1) NS(1)|endometrium(3)|large_intestine(5)|lung(10) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCTTTGGGATTCTGGAAT 0.473000 44 86 1.62263e-30 2.8528e-30 1 1 0 MYOF 26509 broad.mit.edu 37 10 95168668 95168668 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:95168668C>T ENST00000371501.4 - 7 727 c.605G>A c.(604-606)cGc>cAc p.R202H MYOF_ENST00000358334.5_Missense_Mutation_p.R202H|MYOF_ENST00000371502.4_Missense_Mutation_p.R202H|MYOF_ENST00000371489.1_Missense_Mutation_p.R202H|MYOF_ENST00000359263.4_Missense_Mutation_p.R202H Q9NZM1 MYOF_HUMAN myoferlin 202 C2 2.|Necessary for interaction with EHD2. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CACTCGGACGCGGATCTGCAG 0.507000 10 79 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977627 107977627 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:107977627C>A ENST00000372129.2 - 1 2024 c.1948G>T c.(1948-1950)Ggg>Tgg p.G650W NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 650 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AATCTTCCCCCAGACTTCCCT 0.498000 57 131 4.54978e-40 8.17016e-40 1 1 0 EFNA1 1942 broad.mit.edu 37 1 155106462 155106462 + Silent SNP C C A rs11545254 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:155106462C>A ENST00000368407.3 + 5 1055 c.537C>A c.(535-537)atC>atA p.I179I EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I157I NM_004428.2 NP_004419.2 P20827 EFNA1_HUMAN ephrin-A1 179 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1) 5 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) TACATAGCATCGGTCACAGTG 0.582000 7 18 0.0381472 0.0387625 1 1 0 RIF1 55183 broad.mit.edu 37 2 152320091 152320091 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:152320091G>C ENST00000243326.4 + 29 4540 c.4057G>C c.(4057-4059)Gac>Cac p.D1353H RIF1_ENST00000428287.2_Missense_Mutation_p.D1353H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1353H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1353H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1353H Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1353 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATGGAGCATGACAATACAAA 0.343000 21 66 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681097 106681097 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:106681097T>C ENST00000526355.1 - 5 1782 c.1314A>G c.(1312-1314)ctA>ctG p.L438L GUCY1A2_ENST00000282249.2_Silent_p.L438L|GUCY1A2_ENST00000347596.2_Silent_p.L459L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 438 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.L438L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTGAGAGATGTAGCCCTCGGC 0.448000 21 88 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39597091 39597091 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:39597091A>G ENST00000246646.3 - 1 82 c.83T>C c.(82-84)aTc>aCc p.I28T NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 28 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CCCAATGTCGATGGGAGAGAC 0.602000 13 65 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141751666 141751666 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:141751666C>A ENST00000389484.3 - 16 3513 c.2542G>T c.(2542-2544)Gga>Tga p.G848* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 848 LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGAAACTCTCCAGCTTTACAT 0.418000 TSP Lung(27;0.18) 5 117 0.014758 0.015159 1 1 0 DSC2 1824 broad.mit.edu 37 18 28648052 28648052 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:28648052C>G ENST00000280904.6 - 16 3078 c.2635G>C c.(2635-2637)Gat>Cat p.D879H DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 879 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCAAGCCCATCTTCTTCTTGT 0.428000 9 65 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424280 125424280 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:125424280G>T ENST00000373686.1 + 1 436 c.436G>T c.(436-438)Gag>Tag p.E146* Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CTCTTACAGTGAGTGTCTGAC 0.433000 38 232 3.93418e-24 6.68369e-24 1 1 0 CDCA7 83879 broad.mit.edu 37 2 174223566 174223566 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:174223566G>T ENST00000306721.3 + 2 250 c.e2+1 CDCA7_ENST00000392567.2_Splice_Site|CDCA7_ENST00000347703.3_Splice_Site|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000410101.3_Splice_Site NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) TGCAAACACGGTAAGTGCTGC 0.403000 19 67 2.94398e-08 3.90465e-08 1 1 0 ADAM30 11085 broad.mit.edu 37 1 120437773 120437773 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:120437773C>T ENST00000369400.1 - 1 1345 c.1187G>A c.(1186-1188)gGt>gAt p.G396D NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 396 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAGCACATAACCTAGTCCTGG 0.418000 19 213 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12952352 12952352 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:12952352C>T ENST00000276297.4 - 12 3851 c.3442G>A c.(3442-3444)Gac>Aac p.D1148N DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.D711N|DLC1_ENST00000520226.1_Missense_Mutation_p.D637N|DLC1_ENST00000512044.2_Missense_Mutation_p.D745N NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1148 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTCAGCATGTCTGCCACGTCA 0.473000 5 34 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86521071 86521071 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:86521071A>T ENST00000450689.2 - 21 3184 c.2999T>A c.(2998-3000)cTa>cAa p.L1000Q KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L760Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.L929Q|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L833Q NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 1000 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TTTTCCTAGTAGTGACTGTTT 0.378000 10 104 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106142289 106142289 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:106142289G>T ENST00000329625.5 + 4 386 c.108G>T c.(106-108)atG>atT p.M36I DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.M107I P59103 DAOA_HUMAN D-amino acid oxidase activator 107 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) aagtcttcatggcaagaaact 0.493000 11 34 1.58986e-06 1.93237e-06 1 1 0 PLCL1 5334 broad.mit.edu 37 2 198966032 198966032 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:198966032C>A ENST00000428675.1 + 4 3341 c.2943C>A c.(2941-2943)ctC>ctA p.L981L PLCL1_ENST00000437704.2_Silent_p.L883L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 981 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) GCCGGTTTCTCATAGAAATGG 0.358000 19 108 2.37509e-13 3.54856e-13 1 1 0 MAP3K19 80122 broad.mit.edu 37 2 135738894 135738894 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:135738894G>A ENST00000375845.3 - 9 3447 c.3417C>T c.(3415-3417)ttC>ttT p.F1139F MAP3K19_ENST00000375844.3_Silent_p.F321F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Silent_p.F271F|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Silent_p.F273F|MAP3K19_ENST00000358371.4_Silent_p.F1026F NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CAAACTCCATGAAAATGCTCA 0.408000 13 154 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104317049 104317049 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:104317049A>T ENST00000389120.3 + 15 2183 c.2093A>T c.(2092-2094)gAg>gTg p.E698V NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 698 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATGGCTGATGAGGATGCCTTG 0.423000 6 37 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244574692 244574692 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:244574692G>A ENST00000366535.3 - 12 1531 c.1215C>T c.(1213-1215)ctC>ctT p.L405L NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 405 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) TCCATCCTGGGAGAGTCTTAT 0.343000 18 167 0 0 1 0 0 CHMP1A 5119 broad.mit.edu 37 16 89712461 89712461 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:89712461C>A ENST00000253475.5 - 6 716 c.584G>T c.(583-585)cGg>cTg p.R195L CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000535997.2_3'UTR NM_001083314.2 NP_001076783.1 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 0 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) CGGTGCACACCGGCGGGGCAC 0.692000 7 26 0.00448238 0.00471961 1 1 0 PKD1 5310 broad.mit.edu 37 16 2160655 2160655 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:2160655C>A ENST00000262304.4 - 15 4721 c.4513G>T c.(4513-4515)Ggt>Tgt p.G1505C PKD1_ENST00000423118.1_Missense_Mutation_p.G1505C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1505 PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCCACCCACCGTCCCCCAGA 0.662000 28 43 4.31634e-10 5.97647e-10 1 1 0 MDC1 9656 broad.mit.edu 37 6 30673394 30673394 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:30673394C>A ENST00000376406.3 - 10 4213 c.3566G>T c.(3565-3567)gGa>gTa p.G1189V MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G925V NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1189 Interaction with the PRKDC complex.|Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 ACTTTTTCTTCCCCTAGTAAC 0.572000 Other conserved DNA damage response genes 25 303 5.35356e-11 7.6364e-11 1 1 0 FAM102A 399665 broad.mit.edu 37 9 130710649 130710649 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:130710649C>T ENST00000373095.1 - 5 834 c.459G>A c.(457-459)aaG>aaA p.K153K FAM102A_ENST00000373084.4_Silent_p.K11K|FAM102A_ENST00000300434.3_Intron NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 153 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GCACTCACGTCTTGAAGCAGG 0.617000 18 54 0 0 1 0 0 RGS1 5996 broad.mit.edu 37 1 192544947 192544947 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:192544947C>G ENST00000367459.3 + 1 91 c.25C>G c.(25-27)Cca>Gca p.P9A RGS1_ENST00000469578.2_Missense_Mutation_p.P9A NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 9 immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) CATCTCCACTCCAAAGTTAGA 0.443000 11 84 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27497332 27497332 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:27497332T>A ENST00000396271.3 - 10 1373 c.1247A>T c.(1246-1248)cAg>cTg p.Q416L ACBD5_ENST00000375897.3_Missense_Mutation_p.Q239L|ACBD5_ENST00000375901.1_Missense_Mutation_p.Q307L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Q381L|ACBD5_ENST00000375888.1_Missense_Mutation_p.Q425L NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 425 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 ACTTCCCACCTGCCGGCCCTT 0.507000 29 56 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747560 121747560 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:121747560G>T ENST00000452319.1 + 14 4130 c.4070G>T c.(4069-4071)gGc>gTc p.G1357V GLI2_ENST00000361492.4_Missense_Mutation_p.G1357V|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1357 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1357V(2) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCCAAACAGGCCCGATGGGG 0.692000 10 10 0.000978159 0.00105041 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79300930 79300930 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:79300930A>T ENST00000264895.6 + 27 3783 c.3343A>T c.(3343-3345)Att>Ttt p.I1115F FRAS1_ENST00000325942.6_Missense_Mutation_p.I1115F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1114 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GATCCTCCCAATTGGTTCAAT 0.438000 11 45 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62131673 62131673 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:62131673G>T ENST00000433197.2 - 15 1985 c.1890C>A c.(1888-1890)tgC>tgA p.C630* NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 630 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CCTTCTCCGTGCAGAAGTAGC 0.493000 4 16 0.184627 0.185857 1 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125876333 125876333 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:125876333A>G ENST00000393434.2 - 4 730 c.381T>C c.(379-381)gaT>gaC p.D127D ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Silent_p.D127D|ALDH1L1_ENST00000472186.1_Silent_p.D127D|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Silent_p.D137D NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 127 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCCCTTTCTTATCTCCGTGAA 0.587000 6 75 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169993 32169993 + Silent SNP C C A rs61729678 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32169993C>A ENST00000375023.3 - 21 3753 c.3615G>T c.(3613-3615)ctG>ctT p.L1205L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1205 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 CTGGGACTCCCAGAGAGCAGT 0.652000 18 71 3.32936e-07 4.21607e-07 1 1 0 ABTB2 25841 broad.mit.edu 37 11 34173997 34173997 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:34173997C>T ENST00000435224.2 - 17 3439 c.3015G>A c.(3013-3015)ctG>ctA p.L1005L ABTB2_ENST00000298992.2_Silent_p.L819L NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 819 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCAGGTCCTGCAGTGGATCCA 0.647000 4 4 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22748966 22748966 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:22748966G>T ENST00000503442.1 + 0 377 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAAAAATGGGGTTACTCCCAT 0.368000 11 137 1.58986e-06 1.93237e-06 1 1 0 SLC5A4 6527 broad.mit.edu 37 22 32614704 32614704 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr22:32614704C>A ENST00000266086.4 - 15 1788 c.1777G>T c.(1777-1779)Gag>Tag p.E593* RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 593 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CGTGATTTCTCAGGATAATCT 0.418000 28 42 2.79863e-10 3.90363e-10 1 1 0 MDC1 9656 broad.mit.edu 37 6 30679203 30679203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:30679203C>A ENST00000376406.3 - 7 2854 c.2207G>T c.(2206-2208)aGc>aTc p.S736I MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.S736I NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 736 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGTCTGGAAGCTGCAATGGGA 0.502000 Other conserved DNA damage response genes 11 38 0.000978159 0.00105041 1 1 0 RAB39B 116442 broad.mit.edu 37 X 154490296 154490296 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:154490296T>C ENST00000369454.3 - 2 734 c.434A>G c.(433-435)tAc>tGc p.Y145C NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTTCATGCCGTATGCAGCAGC 0.498000 35 27 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926316 22926316 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:22926316C>A ENST00000261374.3 + 2 971 c.537C>A c.(535-537)ccC>ccA p.P179P NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 179 Substrate binding (By similarity). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) AGAAGACGCCCAGCTACTTTG 0.567000 35 55 1.08052e-11 1.5619e-11 1 1 0 SLC25A24 29957 broad.mit.edu 37 1 108728465 108728465 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:108728465C>A ENST00000565488.1 - 2 514 c.295G>T c.(295-297)Gac>Tac p.D99Y SLC25A24_ENST00000370041.4_Missense_Mutation_p.D80Y NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 99 EF-hand 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TTATTTTTGTCTAAACTCTTA 0.318000 4 24 0.00909568 0.00943256 1 1 0 PABPC1 26986 broad.mit.edu 37 8 101719186 101719186 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:101719186G>A ENST00000318607.5 - 10 2504 c.1376C>T c.(1375-1377)cCt>cTt p.P459L PABPC1_ENST00000522387.1_Missense_Mutation_p.P427L|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.P414L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 459 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TGGTGGTCTAGGAGCAGCTGG 0.413000 9 59 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670029 8670029 + Missense_Mutation SNP G G T rs141630862 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:8670029G>T ENST00000270328.4 - 3 569 c.303C>A c.(301-303)caC>caA p.H101Q ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.H101Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 101 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCACGGAGACGTGCCCTGCCA 0.697000 6 26 0.0215528 0.0220486 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108366923 108366923 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:108366923C>A ENST00000263054.6 - 23 3173 c.e23+1 SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000478809.2_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGGGGACTCACCTGCTCCAGG 0.498000 7 50 8.12818e-05 9.24046e-05 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113293524 113293524 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:113293524A>T ENST00000297405.5 - 59 9631 c.9387T>A c.(9385-9387)gaT>gaA p.D3129E CSMD3_ENST00000352409.3_Missense_Mutation_p.D3059E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2960E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3089E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3129 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATGTTGTGCCATCAATTCGGA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179543515 179543515 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179543515G>T ENST00000589042.1 - 143 34009 c.33785C>A c.(33784-33786)cCa>cAa p.P11262Q TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10018Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10945Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10945 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACTGGTACTGGTACTTTCTC 0.368000 15 71 4.14922e-12 6.04395e-12 1 1 0 LSP1 4046 broad.mit.edu 37 11 1908785 1908785 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:1908785G>T ENST00000406638.2 + 10 2128 c.826G>T c.(826-828)Gct>Tct p.A276S LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.A338S|LSP1_ENST00000381775.1_Missense_Mutation_p.A466S|LSP1_ENST00000405957.2_Missense_Mutation_p.A276S NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 338 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) AGGGGGCCCGGCTCCCTAGGC 0.592000 6 28 5.9392e-07 7.42155e-07 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768453 77768453 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77768453C>A ENST00000521891.2 + 10 9744 c.9296C>A c.(9295-9297)cCc>cAc p.P3099H ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3073H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3054H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3054H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3054 Pro-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) ACAGCCTACCCCGGACTCCCC 0.542000 HNSCC(33;0.089) 5 96 0.0293803 0.0299751 1 1 0 TRAPPC11 60684 broad.mit.edu 37 4 184606247 184606247 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:184606247G>A ENST00000334690.6 + 16 1780 c.1578G>A c.(1576-1578)ctG>ctA p.L526L TRAPPC11_ENST00000512476.1_Silent_p.L132L|TRAPPC11_ENST00000357207.4_Silent_p.L526L NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 526 CTTCAACTCTGAAAGATGACC 0.294000 10 40 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15500789 15500789 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:15500789G>T ENST00000504595.1 + 1 485 c.4G>T c.(4-6)Ggc>Tgc p.G2C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 2 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CTACAGGATGGGCGCGAACAA 0.697000 27 195 1.55811e-20 2.61763e-20 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201009108 201009108 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:201009108C>G ENST00000362061.3 - 44 5699 c.5473G>C c.(5473-5475)Gtg>Ctg p.V1825L CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1806L|RP11-168O16.2_ENST00000415359.1_RNA NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1825 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGATCTCCACTTCCTCTGGT 0.612000 38 140 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86378436 86378436 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:86378436G>C ENST00000410111.3 - 12 1772 c.1385C>G c.(1384-1386)gCt>gGt p.A462G IMMT_ENST00000442664.2_Missense_Mutation_p.A461G|IMMT_ENST00000254636.5_Missense_Mutation_p.A363G|IMMT_ENST00000409051.2_Missense_Mutation_p.A415G|IMMT_ENST00000449247.2_Missense_Mutation_p.A451G NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 462 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTCCTGTTCAGCCTGTATTTC 0.398000 3 43 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110280799 110280799 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110280799C>T ENST00000540225.1 - 6 596 c.286G>A c.(286-288)Gaa>Aaa p.E96K GSTM3_ENST00000256594.3_Missense_Mutation_p.E96K|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.E96K|RP4-735C1.4_ENST00000431955.1_RNA P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 96 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ATCTTTTCTTCTTCAGTCTCA 0.488000 7 50 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262394 7262394 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:7262394G>T ENST00000361972.4 - 11 1399 c.1309C>A c.(1309-1311)Cta>Ata p.L437I SFMBT2_ENST00000397167.1_Missense_Mutation_p.L437I NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 437 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AGCCACATTAGCCGCCCCTTC 0.532000 41 228 1.59932e-28 2.79235e-28 1 1 0 PCDHB6 56130 broad.mit.edu 37 5 140530172 140530172 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140530172C>A ENST00000231136.1 + 1 334 c.334C>A c.(334-336)Ccc>Acc p.P112T PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 112 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGGAAAACCCCTTGCAGTT 0.473000 11 58 3.86212e-05 4.45765e-05 1 1 0 LOC101929950 101929950 broad.mit.edu 37 17 36359023 36359023 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:36359023G>T ENST00000312412.4 - 6 667 c.668C>A c.(667-669)cCa>cAa p.P223Q RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.P68Q kidney(1)|lung(3) 4 ATCAGGGTATGGTTTCCGGTC 0.348000 23 349 1.22574e-08 1.64593e-08 1 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736090 140736090 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140736090A>T ENST00000571252.1 + 1 1323 c.1323A>T c.(1321-1323)caA>caT p.Q441H PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCACTGCAAGTGATGGACA 0.458000 22 73 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997479 66997479 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:66997479C>G ENST00000303334.4 + 3 444 c.373C>G c.(373-375)Ctg>Gtg p.L125V CES3_ENST00000394037.1_Missense_Mutation_p.L125V NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 125 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) AGAGGACTGCCTGGTCCTCAA 0.592000 5 46 0 0 1 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794796 176794796 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:176794796C>G ENST00000272748.4 - 13 1433 c.1186G>C c.(1186-1188)Gag>Cag p.E396Q KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.E427Q NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 396 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TCCTCATTCTCAGTCTCTTGT 0.438000 21 91 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:7579485C>A ENST00000420246.2 - 4 334 c.202G>T c.(202-204)Gag>Tag p.E68* TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 68 Interaction with HRMT1L2.|Interaction with WWOX. E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAGCAGCCTCTGGCATTCTG 0.607000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 58 99 1.64573e-32 2.91376e-32 1 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455522 187455522 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:187455522C>A ENST00000307161.5 - 2 575 c.374G>T c.(373-375)cGc>cTc p.R125L RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 125 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GTAGCAGTAGCGGTTGATGGC 0.567000 10 28 2.17888e-05 2.56179e-05 1 1 0 BCHE 590 broad.mit.edu 37 3 165503972 165503972 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:165503972A>G ENST00000264381.3 - 3 1811 c.1645T>C c.(1645-1647)Ttc>Ctc p.F549L BCHE_ENST00000540653.1_Missense_Mutation_p.F11L NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 549 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GATGTCCAGAATCGACATTGT 0.358000 11 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179647564 179647564 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179647564G>C ENST00000589042.1 - 18 3293 c.3069C>G c.(3067-3069)acC>acG p.T1023T TTN_ENST00000342175.6_Silent_p.T977T|TTN_ENST00000359218.5_Silent_p.T977T|TTN_ENST00000342992.6_Silent_p.T1023T|TTN_ENST00000460472.2_Silent_p.T977T|TTN_ENST00000360870.5_Silent_p.T1023T|TTN_ENST00000591111.1_Silent_p.T1023T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1023 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T1023T(3)|p.T977T(3) 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) ATGTGCTGACGGTTCCAGCCT 0.498000 8 52 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773086 7773086 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:7773086C>T ENST00000338316.4 + 18 2345 c.2256C>T c.(2254-2256)tcC>tcT p.S752S ADCY2_ENST00000537121.1_Silent_p.S572S NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 752 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.S752S(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TATCCTGTTCCGTGTTCCTGC 0.493000 23 234 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893164 20893164 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:20893164G>T ENST00000381552.1 + 12 1963 c.1595G>T c.(1594-1596)gGa>gTa p.G532V SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G532V|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G532V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G414V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G483V Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 532 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TCTAAATCCGGAAATTCCTCA 0.353000 32 86 1.99505e-19 3.27882e-19 1 1 0 TMCC2 9911 broad.mit.edu 37 1 205210770 205210770 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:205210770C>A ENST00000358024.3 + 2 734 c.345C>A c.(343-345)tcC>tcA p.S115S TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.S37S NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 115 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) AGGGTATGTCCGACCATGACT 0.637000 14 35 0.000151284 0.000170958 1 1 0 DGKB 1607 broad.mit.edu 37 7 14613946 14613946 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:14613946G>T ENST00000403951.2 - 20 2083 c.1664C>A c.(1663-1665)aCa>aAa p.T555K DGKB_ENST00000399322.3_Missense_Mutation_p.T555K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.T536K|DGKB_ENST00000407950.1_Missense_Mutation_p.T547K|DGKB_ENST00000406247.3_Missense_Mutation_p.T555K|DGKB_ENST00000258767.5_Missense_Mutation_p.T555K|DGKB_ENST00000402815.1_Missense_Mutation_p.T554K Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 555 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CATGATTTCTGTGCTGTTTTC 0.348000 46 117 1.5731e-28 2.75293e-28 1 1 0 PAPPA 5069 broad.mit.edu 37 9 118950203 118950203 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:118950203G>T ENST00000328252.3 + 2 1555 c.1186G>T c.(1186-1188)Gac>Tac p.D396Y NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 396 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGGGAGCTGGACGTGCTGGA 0.577000 17 42 3.99206e-14 6.04809e-14 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181741334 181741334 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:181741334C>A ENST00000526775.1 + 36 5214 c.5049C>A c.(5047-5049)taC>taA p.Y1683* CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Y1634*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Y1653*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Y1683*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Y1309* NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1702 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCTACGTGTACTTTGTCTCCT 0.547000 36 134 4.62619e-21 7.78931e-21 1 1 0 THSD7B 80731 broad.mit.edu 37 2 138169421 138169421 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:138169421C>A ENST00000409968.1 + 14 3116 c.2938C>A c.(2938-2940)Ccc>Acc p.P980T THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P980T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P949T thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACCTGTTGACCCCTCCTTCTG 0.498000 6 46 0.248553 0.249212 1 1 0 MUC2 4583 broad.mit.edu 37 11 1090835 1090835 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:1090835G>T ENST00000441003.2 + 28 3757 c.3730G>T c.(3730-3732)Ggc>Tgc p.G1244C MUC2_ENST00000359061.5_Missense_Mutation_p.G1245C NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1244 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGAGATCTGTGGCCCCAACGG 0.577000 12 28 7.03913e-09 9.48588e-09 1 1 0 PSG11 5680 broad.mit.edu 37 19 43523194 43523194 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:43523194G>A ENST00000401740.1 - 3 540 c.437C>T c.(436-438)aCt>aTt p.T146I PSG11_ENST00000320078.7_Missense_Mutation_p.T146I|PSG11_ENST00000306322.7_Missense_Mutation_p.T24I|PSG11_ENST00000403486.1_Missense_Mutation_p.T24I|PSG11_ENST00000595312.1_5'UTR Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 146 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GGGCTTGGGAGTCTCCACTGT 0.507000 81 185 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004718 102004718 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:102004718C>T ENST00000372735.1 + 4 1380 c.795C>T c.(793-795)tgC>tgT p.C265C BHLHB9_ENST00000447531.1_Silent_p.C265C|BHLHB9_ENST00000457056.1_Silent_p.C265C|BHLHB9_ENST00000361229.4_Silent_p.C265C|BHLHB9_ENST00000448867.1_Silent_p.C265C Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 265 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAACAGCTTGCCGCCCTTCTA 0.502000 15 35 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119549368 119549368 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:119549368T>A ENST00000264025.3 - 2 717 c.187A>T c.(187-189)Acc>Tcc p.T63S PVRL1_ENST00000340882.2_Missense_Mutation_p.T63S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.T63S NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 63 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GTGACCTGGGTGATCTTCACG 0.597000 9 38 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544203 82544203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:82544203C>A ENST00000423517.2 - 7 13436 c.13099G>T c.(13099-13101)Gtt>Ttt p.V4367F PCLO_ENST00000437081.1_Missense_Mutation_p.V1087F|PCLO_ENST00000333891.8_Missense_Mutation_p.V4367F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4298 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTGGCCAACAGGACTGAGT 0.517000 9 48 3.09899e-07 3.93753e-07 1 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530395 80530395 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:80530395A>C ENST00000295057.3 - 2 1206 c.550T>G c.(550-552)Tgc>Ggc p.C184G CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.C184G|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 184 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 AGGCTGCGGCAGTCCTGGAAG 0.612000 HNSCC(69;0.2) 10 60 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124404249 124404249 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:124404249G>C ENST00000303921.2 - 1 1432 c.782C>G c.(781-783)gCc>gGc p.A261G NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 261 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GACCGCGTAGGCTCCATAGGA 0.607000 9 47 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246487 56246487 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:56246487C>A ENST00000361673.3 - 4 1734 c.1521G>T c.(1519-1521)ggG>ggT p.G507G NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 507 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACTGGCTCATCCCTGAGTTTT 0.512000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 152 5.49717e-05 6.33515e-05 1 1 0 PDHA2 5161 broad.mit.edu 37 4 96761473 96761473 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:96761473G>T ENST00000295266.4 + 1 235 c.172G>T c.(172-174)Gag>Tag p.E58* NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 58 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CACTAGGGCGGAGGGGCTTAA 0.458000 7 49 2.0095e-06 2.43458e-06 1 1 0 EDN3 1908 broad.mit.edu 37 20 57876558 57876558 + Missense_Mutation SNP C C A rs148646322 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:57876558C>A ENST00000311585.7 + 2 516 c.146C>A c.(145-147)aCt>aAt p.T49N EDN3_ENST00000371028.2_Missense_Mutation_p.T49N|EDN3_ENST00000395654.3_Missense_Mutation_p.T49N|EDN3_ENST00000371025.3_Missense_Mutation_p.T49N|EDN3_ENST00000337938.2_Missense_Mutation_p.T49N NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 49 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) TGTGAAGAGACTGTGGCTGGC 0.682000 8 40 1.58986e-06 1.93237e-06 1 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156651382 156651382 + Nonstop_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:156651382A>T ENST00000296518.7 + 10 2281 c.2072A>T c.(2071-2073)tAg>tTg p.*691L GUCY1A3_ENST00000455639.2_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000511108.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000393832.3_Nonstop_Mutation_p.*433L|GUCY1A3_ENST00000506455.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000513574.1_Nonstop_Mutation_p.*691L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 0 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GGAATAGATTAGCAACCTATA 0.388000 7 45 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154386 2154386 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:2154386C>A ENST00000416167.2 - 4 1540 c.374G>T c.(373-375)cGc>cTc p.R125L IGF2_ENST00000381395.1_Missense_Mutation_p.R125L|IGF2_ENST00000418738.2_Missense_Mutation_p.R125L|IGF2_ENST00000434045.2_Missense_Mutation_p.R181L|IGF2_ENST00000381392.1_Missense_Mutation_p.R128L|IGF2_ENST00000381389.1_Missense_Mutation_p.R125L|IGF2_ENST00000337883.6_Missense_Mutation_p.R125L|IGF2_ENST00000381406.4_Missense_Mutation_p.R128L|IGF2_ENST00000300632.5_Missense_Mutation_p.R125L P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 125 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCTGCGCAGGCGCTGGGTGGA 0.667000 6 16 0.00116845 0.00124766 1 1 0 TYR 7299 broad.mit.edu 37 11 88911891 88911891 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:88911891C>A ENST00000263321.5 + 1 1272 c.770C>A c.(769-771)cCc>cAc p.P257H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 257 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GGTCAGCACCCCACAAATCCT 0.453000 32 90 9.65021e-13 1.42214e-12 1 1 0 ACSL5 51703 broad.mit.edu 37 10 114164554 114164554 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:114164554A>G ENST00000393081.1 + 5 729 c.422A>G c.(421-423)aAt>aGt p.N141S ACSL5_ENST00000356116.1_Missense_Mutation_p.N197S|ACSL5_ENST00000354273.4_Missense_Mutation_p.N141S|ACSL5_ENST00000433418.1_Missense_Mutation_p.N141S|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Missense_Mutation_p.N141S NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 141 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TTTGCTCAGAATAGGCCAGAG 0.408000 28 136 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137154319 137154319 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:137154319G>C ENST00000453654.1 - 25 2113 c.1574C>G c.(1573-1575)tCt>tGt p.S525C DGKI_ENST00000424189.2_Missense_Mutation_p.S828C|DGKI_ENST00000288490.5_Missense_Mutation_p.S825C|DGKI_ENST00000446122.1_Missense_Mutation_p.S807C O75912 DGKI_HUMAN diacylglycerol kinase, iota 825 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCACCGAGGAGAGAGCCTCTG 0.527000 10 47 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45535891 45535891 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45535891G>A ENST00000361462.2 + 17 4853 c.4670G>A c.(4669-4671)cGt>cAt p.R1557H FAM179B_ENST00000361577.3_Missense_Mutation_p.R1504H|FAM179B_ENST00000382233.2_3'UTR Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1504 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AAAGACTTTCGTGATCGTATT 0.358000 6 82 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25820019 25820019 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:25820019A>G ENST00000244527.4 - 4 447 c.332T>C c.(331-333)aTt>aCt p.I111T SLC17A1_ENST00000476801.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000427328.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000468082.1_Missense_Mutation_p.I111T NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 111 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TGCAAAGCCAATCATTTTCTT 0.453000 13 80 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10409131 10409131 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:10409131C>A ENST00000226207.5 - 19 2266 c.2172G>T c.(2170-2172)caG>caT p.Q724H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 724 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGTCTGACCTCTGTTTGAAGT 0.383000 15 36 2.4624e-09 3.35418e-09 1 1 0 EPHB1 2047 broad.mit.edu 37 3 134825299 134825299 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:134825299C>A ENST00000398015.3 + 4 1185 c.815C>A c.(814-816)gCa>gAa p.A272E EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 272 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCTTGCCCTGCAGGGACATTC 0.557000 15 32 1.5739e-10 2.2199e-10 1 1 0 ROPN1L 83853 broad.mit.edu 37 5 10461347 10461347 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:10461347G>T ENST00000503804.1 + 5 990 c.469G>T c.(469-471)Gag>Tag p.E157* ROPN1L_ENST00000274134.4_Nonsense_Mutation_p.E157*|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 157 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GGACGATCCGGAGGGCGGGCC 0.567000 73 90 2.51111e-31 4.4355e-31 1 1 0 CD300LG 146894 broad.mit.edu 37 17 41926217 41926217 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:41926217G>A ENST00000317310.4 + 2 376 c.335G>A c.(334-336)cGg>cAg p.R112Q CD300LG_ENST00000588884.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R112Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R112Q|CD300LG_ENST00000586233.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R112Q NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 112 Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GTCGAAAAACGGGGCCCCGAT 0.582000 17 72 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81635091 81635091 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:81635091G>T ENST00000356860.3 - 17 1843 c.1505C>A c.(1504-1506)cCa>cAa p.P502Q CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P502Q NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 502 Cache. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGTAAAACGTGGTGTCAGTCT 0.348000 11 51 4.68919e-08 6.1976e-08 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690524 77690524 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77690524C>A ENST00000521891.2 + 4 3622 c.3174C>A c.(3172-3174)gtC>gtA p.V1058V ZFHX4_ENST00000518282.1_Silent_p.V1032V|ZFHX4_ENST00000050961.6_Silent_p.V1032V|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.V1032V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1032 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) CCACCAAGGTCAAGTTGAATC 0.542000 HNSCC(33;0.089) 42 117 5.59293e-11 7.96281e-11 1 1 0 ZBTB25 7597 broad.mit.edu 37 14 64957115 64957115 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:64957115G>C ENST00000394715.1 - 5 838 c.137C>G c.(136-138)tCt>tGt p.S46C ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000261683.2_Missense_Mutation_p.S46C P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 46 BTB. cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) GAAATAGTTAGAAAAAGCAGC 0.328000 13 72 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95650954 95650954 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:95650954C>T ENST00000436874.1 + 3 302 c.197C>T c.(196-198)aCc>aTc p.T66I VEZT_ENST00000261219.6_Missense_Mutation_p.T18I|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 66 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 GTGGCTGAAACCATCAAAAGT 0.348000 5 11 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455353 29455353 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:29455353C>G ENST00000377127.3 - 1 385 c.327G>C c.(325-327)atG>atC p.M109I NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 109 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGATGTATACCATGTAGGGAT 0.527000 8 52 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162459336 162459336 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:162459336C>T ENST00000306100.5 - 10 1730 c.1294G>A c.(1294-1296)Gac>Aac p.D432N FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 432 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTAGCAGAGTCTTCCACAAAA 0.403000 21 191 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66276549 66276549 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:66276549G>T ENST00000532677.1 + 18 2499 c.e18-1 CTD-3074O7.11_ENST00000419755.3_Intron|DPP3_ENST00000531863.1_Splice_Site|DPP3_ENST00000360510.2_Splice_Site|DPP3_ENST00000541961.1_Splice_Site|DPP3_ENST00000530165.1_Splice_Site|DPP3_ENST00000453114.1_Splice_Site NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CTCCTCCCCAGGCTCAGACGT 0.493000 13 120 9.16793e-09 1.23327e-08 1 1 0 FLG2 388698 broad.mit.edu 37 1 152325946 152325946 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152325946C>A ENST00000388718.5 - 3 4388 c.4316G>T c.(4315-4317)aGa>aTa p.R1439I FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1439 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGATTGTGGTCTGTGTGAGCC 0.527000 158 397 3.59047e-61 6.525e-61 1 1 0 TSIX 9383 broad.mit.edu 37 X 73041025 73041025 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:73041025G>T ENST00000604411.1 + 0 28986 XIST_ENST00000429829.1_lincRNA NR_003255.2 AAAATGTACAGAATGAAAACT 0.368000 3 14 0.115264 0.116497 1 1 0 LYST 1130 broad.mit.edu 37 1 235883977 235883977 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:235883977C>G ENST00000389794.3 - 40 9718 c.9544G>C c.(9544-9546)Gat>Cat p.D3182H LYST_ENST00000389793.2_Missense_Mutation_p.D3182H|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3182 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATCAACAGATCATTGAGGTCA 0.348000 12 124 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48250146 48250146 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:48250146T>C ENST00000394747.1 - 6 1179 c.830A>G c.(829-831)tAt>tGt p.Y277C ABCC11_ENST00000537808.1_Missense_Mutation_p.Y277C|ABCC11_ENST00000356608.2_Missense_Mutation_p.Y277C|ABCC11_ENST00000353782.5_Missense_Mutation_p.Y277C|ABCC11_ENST00000394748.1_Missense_Mutation_p.Y277C NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 277 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TAGGGGTCCATAGCACACCCC 0.478000 22 134 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88853926 88853926 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:88853926C>A ENST00000537554.1 - 2 4630 c.1068G>T c.(1066-1068)tgG>tgT p.W356C CNR1_ENST00000369501.2_Missense_Mutation_p.W356C|CNR1_ENST00000428600.2_Missense_Mutation_p.W356C|CNR1_ENST00000468898.1_Missense_Mutation_p.W323C|CNR1_ENST00000369499.2_Missense_Mutation_p.W356C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.W356C|CNR1_ENST00000549890.1_Missense_Mutation_p.W356C|CNR1_ENST00000549716.1_Missense_Mutation_p.W295C NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 356 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GCAGAGGGCCCCAGCAGATGA 0.522000 9 98 1.12685e-05 1.33946e-05 1 1 0 CNTN4 152330 broad.mit.edu 37 3 2778005 2778005 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:2778005A>G ENST00000397461.1 + 4 546 c.162A>G c.(160-162)ggA>ggG p.G54G CNTN4_ENST00000418658.1_Silent_p.G54G|CNTN4_ENST00000427331.1_Silent_p.G54G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 54 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGTTAAAGGAAATCCAAAAC 0.353000 9 84 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87635137 87635137 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:87635137T>A ENST00000376214.1 + 20 3127 c.2189T>A c.(2188-2190)aTg>aAg p.M730K NTRK2_ENST00000277120.3_Missense_Mutation_p.M730K|NTRK2_ENST00000376213.1_Missense_Mutation_p.M714K|NTRK2_ENST00000323115.4_Missense_Mutation_p.M714K NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 714 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GGCCACACAATGCTGCCCATT 0.572000 TSP Lung(25;0.17) 29 77 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113524823 113524823 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:113524823C>A ENST00000505019.1 - 10 2958 c.2833G>T c.(2833-2835)Gga>Tga p.G945* C4orf21_ENST00000309071.5_Nonsense_Mutation_p.G945* NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 945 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GTAGCTGATCCTTTTACTTGA 0.368000 11 58 5.16669e-11 7.39776e-11 1 1 0 LRP4 4038 broad.mit.edu 37 11 46918425 46918425 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:46918425T>C ENST00000378623.1 - 8 1159 c.917A>G c.(916-918)aAt>aGt p.N306S NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 306 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ACCACCTGTATTCTCACAGTT 0.567000 10 98 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151236486 151236486 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:151236486G>T ENST00000368884.3 + 3 344 c.264G>T c.(262-264)acG>acT p.T88T PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.T88T NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 88 VWFA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTTCTGCACGGGCATCCGCG 0.572000 3 12 0.00024832 0.000276073 1 1 0 SDCCAG8 10806 broad.mit.edu 37 1 243652359 243652359 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:243652359C>G ENST00000366541.3 + 17 2147 c.2029C>G c.(2029-2031)Ctg>Gtg p.L677V SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L532V|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L634V|AKT3_ENST00000336199.5_Intron NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 677 Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGCCCAGCAGCTGGTGCAGCT 0.587000 4 41 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42972100 42972100 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:42972100C>A ENST00000217043.2 + 3 636 c.464C>A c.(463-465)cCa>cAa p.P155Q NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 155 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GACTGTAACCCACACTGCCCC 0.622000 17 56 4.63292e-17 7.40484e-17 1 1 0 CD1D 912 broad.mit.edu 37 1 158151905 158151905 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:158151905G>T ENST00000368171.3 + 4 911 c.412G>T c.(412-414)Gga>Tga p.G138* NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 138 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGCATTTCAAGGAAAAGATAT 0.512000 66 248 3.57465e-26 6.19824e-26 1 1 0 SKI 6497 broad.mit.edu 37 1 2160515 2160515 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:2160515G>C ENST00000378536.4 + 1 382 c.310G>C c.(310-312)Gta>Cta p.V104L NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 104 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CTGCGAGACCGTACTGGAAGG 0.692000 5 10 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584589 138584589 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:138584589G>T ENST00000251691.4 + 12 2135 c.1969G>T c.(1969-1971)Gcc>Tcc p.A657S NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 657 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GCGAACTGCCGCCCTGTCTCT 0.607000 10 77 1.76689e-08 2.35171e-08 1 1 0 OR5B17 219965 broad.mit.edu 37 11 58126193 58126193 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:58126193G>T ENST00000357377.3 - 1 349 c.350C>A c.(349-351)gCc>gAc p.A117D NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCGGTCATAGGCCATTGAGGA 0.473000 10 90 7.48243e-07 9.243e-07 1 1 0 IL32 9235 broad.mit.edu 37 16 3119310 3119310 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3119310A>T ENST00000525643.2 + 7 853 c.521A>T c.(520-522)gAg>gTg p.E174V IL32_ENST00000008180.9_Missense_Mutation_p.E154V|IL32_ENST00000528163.2_Missense_Mutation_p.E174V|IL32_ENST00000530538.2_Missense_Mutation_p.E174V|IL32_ENST00000531965.1_Missense_Mutation_p.E164V|IL32_ENST00000548476.1_Missense_Mutation_p.E220V|IL32_ENST00000552664.1_Missense_Mutation_p.E174V|IL32_ENST00000526464.2_Missense_Mutation_p.E174V|IL32_ENST00000552356.1_Missense_Mutation_p.E154V|IL32_ENST00000396890.2_Missense_Mutation_p.E220V|IL32_ENST00000530890.1_Missense_Mutation_p.E154V|IL32_ENST00000551513.1_Missense_Mutation_p.E211V|IL32_ENST00000548246.1_Missense_Mutation_p.E134V|IL32_ENST00000396887.3_Missense_Mutation_p.E117V|IL32_ENST00000440815.3_Missense_Mutation_p.E174V|IL32_ENST00000529699.1_Missense_Mutation_p.E154V|IL32_ENST00000551122.1_Missense_Mutation_p.E117V|IL32_ENST00000549213.1_Missense_Mutation_p.E117V|IL32_ENST00000444393.3_Missense_Mutation_p.E174V|IL32_ENST00000325568.5_Missense_Mutation_p.E174V|IL32_ENST00000529550.1_Missense_Mutation_p.E174V|IL32_ENST00000533097.2_Missense_Mutation_p.E174V|IL32_ENST00000534507.1_Missense_Mutation_p.E220V|IL32_ENST00000552936.1_Missense_Mutation_p.E198V|IL32_ENST00000382213.3_Missense_Mutation_p.E165V|IL32_ENST00000548652.1_Missense_Mutation_p.E165V P24001 IL32_HUMAN interleukin 32 220 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 GGGGACAAGGAGGAGCTGACA 0.582000 11 169 0 0 1 0 0 FBP1 2203 broad.mit.edu 37 9 97365818 97365818 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:97365818C>A ENST00000415431.1 - 8 1091 c.862G>T c.(862-864)Gtc>Ttc p.V288F FBP1_ENST00000375326.4_Missense_Mutation_p.V288F NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 288 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TTCTCCATGACGTAGGCCATG 0.542000 OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 40 1.3612e-06 1.67057e-06 1 1 0 CDH2 1000 broad.mit.edu 37 18 25591899 25591899 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:25591899G>A ENST00000269141.3 - 4 880 c.457C>T c.(457-459)Cac>Tac p.H153Y CDH2_ENST00000399380.3_Missense_Mutation_p.H122Y NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 153 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTGTAGGTGGCCACTGTGC 0.453000 11 102 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42825709 42825709 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:42825709C>G ENST00000372970.2 - 6 1042 c.862G>C c.(862-864)Gaa>Caa p.E288Q OSER1_ENST00000255174.2_Missense_Mutation_p.E288Q oxidative stress responsive serine-rich 1 TACATCATTTCTGCCATGTGG 0.418000 27 87 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346640 11346640 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:11346640T>C ENST00000304623.8 - 9 1661 c.1472A>G c.(1471-1473)tAt>tGt p.Y491C CTNND2_ENST00000458100.2_Missense_Mutation_p.Y58C|CTNND2_ENST00000511377.1_Missense_Mutation_p.Y400C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.Y154C|CTNND2_ENST00000359640.2_Missense_Mutation_p.Y491C NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 491 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GCCGGCGGCATAGCTGGCCCT 0.657000 7 115 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46406966 46406966 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:46406966G>T ENST00000433765.2 - 1 1141 c.1142C>A c.(1141-1143)gCt>gAt p.A381D NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 381 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CTGGTTGCGAGCGATGCTGGC 0.622000 9 121 0.0581538 0.0590124 1 1 0 SLC33A1 9197 broad.mit.edu 37 3 155571625 155571625 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:155571625C>A ENST00000392845.2 - 1 542 c.162G>T c.(160-162)ggG>ggT p.G54G SLC33A1_ENST00000359479.3_Silent_p.G54G NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 54 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCCGGTATCCCCCAGAAGAG 0.557000 23 49 2.52088e-20 4.21633e-20 1 1 0 EMILIN2 84034 broad.mit.edu 37 18 2891640 2891640 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:2891640C>A ENST00000254528.3 + 4 1674 c.1515C>A c.(1513-1515)ctC>ctA p.L505L NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 505 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GGAGCGTTCTCCTACAGATGA 0.547000 10 77 4.68919e-08 6.1976e-08 1 1 0 CDK5RAP2 55755 broad.mit.edu 37 9 123165113 123165113 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:123165113T>A ENST00000349780.4 - 34 5457 c.5278A>T c.(5278-5280)Agc>Tgc p.S1760C CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1681C|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1719C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1728C NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1760 Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CTTGTGGAGCTGGGAGCCTCT 0.577000 20 50 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29854858 29854858 + Splice_Site SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:29854858A>G ENST00000325874.8 + 11 1503 c.e11-1 RAB11FIP4_ENST00000394744.2_Splice_Site NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TCCTTTCGCCAGGGTGCAGCA 0.483000 4 11 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866757 23866757 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23866757G>T ENST00000405093.3 - 16 2027 c.1957C>A c.(1957-1959)Cac>Aac p.H653N MYH6_ENST00000356287.3_Missense_Mutation_p.H653N NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 653 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTACCCGGTGGAGAGCCGAC 0.542000 10 69 3.86212e-05 4.45765e-05 1 1 0 APLNR 187 broad.mit.edu 37 11 57003659 57003659 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:57003659C>T ENST00000606794.1 - 1 1016 c.820G>A c.(820-822)Ggc>Agc p.G274S NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 274 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGCAGGCTGCCCAGCATGTAC 0.597000 16 30 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25523106 25523106 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:25523106C>A ENST00000264709.3 - 3 416 c.79G>T c.(79-81)Gag>Tag p.E27* DNMT3A_ENST00000406659.3_Nonsense_Mutation_p.E27*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E27* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 27 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTGCTCCTCTCCGTCCTGC 0.682000 """Mis, F, N, S""" AML 5 19 0.00116845 0.00124766 1 1 0 NPY5R 4889 broad.mit.edu 37 4 164271597 164271597 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:164271597G>A ENST00000515560.1 + 4 1694 c.172G>A c.(172-174)Ggg>Agg p.G58R NPY5R_ENST00000506953.1_Missense_Mutation_p.G58R|NPY5R_ENST00000338566.3_Missense_Mutation_p.G58R Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 58 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.G58W(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGGCTTTATGGGGAATCTACT 0.378000 25 156 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841791 5841791 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:5841791T>A ENST00000317037.2 + 1 248 c.226T>A c.(226-228)Tgc>Agc p.C76S TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCACCTTGTGCACCACCAT 0.527000 34 113 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20907087 20907087 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:20907087G>T ENST00000298925.5 + 6 840 c.e6+1 NELL1_ENST00000357134.5_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site Q92832 NELL1_HUMAN NEL-like 1 (chicken) cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTTATTCAAAGTAAGCACTAA 0.403000 9 29 0.000274275 0.000301384 1 1 0 TTN 7273 broad.mit.edu 37 2 179462456 179462456 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179462456C>A ENST00000589042.1 - 294 57577 c.57353G>T c.(57352-57354)gGa>gTa p.G19118V TTN_ENST00000342175.6_Missense_Mutation_p.G10245V|TTN_ENST00000359218.5_Missense_Mutation_p.G10178V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16550V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10053V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17477V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17477 Fibronectin type-III 38. 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) AGGAGGCTTTCCAGACACATA 0.483000 7 69 0.00198382 0.00210346 1 1 0 SDK1 221935 broad.mit.edu 37 7 4153881 4153881 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:4153881G>T ENST00000404826.2 + 25 3937 c.3798G>T c.(3796-3798)gtG>gtT p.V1266V SDK1_ENST00000389531.3_Silent_p.V1266V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1266 Fibronectin type-III 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAGCGAGGTGGTGCGGGGCC 0.637000 5 23 0.000602214 0.000654129 1 1 0 SOX6 55553 broad.mit.edu 37 11 16208425 16208425 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:16208425C>A ENST00000352083.6 - 5 689 c.612G>T c.(610-612)caG>caT p.Q204H SOX6_ENST00000316399.6_Missense_Mutation_p.Q204H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q204H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q204H|SOX6_ENST00000527619.1_Missense_Mutation_p.Q207H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q204H P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 204 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 CTGCCAGTAGCTGCTCCCGTA 0.493000 63 124 2.20561e-19 3.61701e-19 1 1 0 SULF2 55959 broad.mit.edu 37 20 46313316 46313316 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:46313316G>T ENST00000359930.4 - 6 1598 c.747C>A c.(745-747)agC>agA p.S249R SULF2_ENST00000467815.1_Missense_Mutation_p.S249R|SULF2_ENST00000484875.1_Missense_Mutation_p.S249R|SULF2_ENST00000361612.4_Missense_Mutation_p.S249R|CTD-2653D5.1_ENST00000526566.2_RNA NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 249 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CGTAGTTGTAGCTCGGCGTGC 0.632000 18 33 1.01871e-10 1.44222e-10 1 1 0 ZNF33A 7581 broad.mit.edu 37 10 38344699 38344699 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:38344699G>A ENST00000374618.3 + 5 1825 c.1647G>A c.(1645-1647)ggG>ggA p.G549G ZNF33A_ENST00000307441.9_Silent_p.G548G|ZNF33A_ENST00000432900.2_Silent_p.G555G|ZNF33A_ENST00000458705.2_Silent_p.G548G|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 548 Q -> E (in dbSNP:rs2505232). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CACACACAGGGCAGAAACCCT 0.428000 10 127 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100061934 100061934 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:100061934G>T ENST00000524871.1 + 14 1947 c.1657G>T c.(1657-1659)Ggg>Tgg p.G553W CNTN5_ENST00000527185.1_Missense_Mutation_p.G553W|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.G553W|CNTN5_ENST00000418526.2_Missense_Mutation_p.G479W|CNTN5_ENST00000528682.1_Missense_Mutation_p.G553W NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 553 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CGTTTGCCGAGGGGAAAACGT 0.393000 14 49 2.61681e-11 3.76821e-11 1 1 0 SLC6A4 6532 broad.mit.edu 37 17 28544217 28544217 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:28544217G>A ENST00000401766.2 - 5 1316 c.804C>T c.(802-804)ttC>ttT p.F268F SLC6A4_ENST00000261707.3_Silent_p.F268F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 268 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TCCAGATGCTGAAGTAGATAA 0.597000 29 102 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24185863 24185863 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:24185863C>G ENST00000303531.7 + 12 1508 c.1356C>G c.(1354-1356)atC>atG p.I452M PRKCB_ENST00000321728.7_Missense_Mutation_p.I452M NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 452 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAATTGCCATCGGTCTGTTCT 0.423000 3 48 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510364 71510364 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:71510364C>G ENST00000396073.3 + 9 3502 c.3221C>G c.(3220-3222)tCt>tGt p.S1074C ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1074 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGAACTCCATCTAGCGATGGA 0.443000 25 72 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545480 234545480 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:234545480T>C ENST00000344644.5 + 1 381 c.312T>C c.(310-312)agT>agC p.S104S UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.S104S NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGCACAAAGTATATTTTCTC 0.378000 24 115 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227264 75227264 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:75227264C>A ENST00000342232.4 - 2 1011 c.971G>T c.(970-972)gGc>gTc p.G324V NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 324 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTCTTTGGAGCCGTCAGGAAA 0.463000 50 142 1.19451e-25 2.05239e-25 1 1 0 RBM12B 389677 broad.mit.edu 37 8 94746661 94746661 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:94746661T>A ENST00000399300.2 - 3 2191 c.1978A>T c.(1978-1980)Agg>Tgg p.R660W RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 660 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGAGCCACCTTAAGTCCTCC 0.637000 57 132 0 0 1 0 0 CST2 1470 broad.mit.edu 37 20 23805878 23805878 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:23805878C>T ENST00000304725.2 - 2 381 c.311G>A c.(310-312)tGt>tAt p.C104Y NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA 104 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 ATGGAAGGCACAGGTGTCCAA 0.547000 15 216 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887785 25887785 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:25887785A>C ENST00000376351.3 + 11 3589 c.3230A>C c.(3229-3231)cAa>cCa p.Q1077P GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1077 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGGGAGAGCCAAGGCCAGTCC 0.493000 24 109 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131343323 131343323 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:131343323G>C ENST00000372739.3 + 11 1556 c.1446G>C c.(1444-1446)tgG>tgC p.W482C SPTAN1_ENST00000372731.4_Missense_Mutation_p.W482C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.W482C NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 482 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TGGACAACTGGATGAGCAAGC 0.572000 12 94 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308204 72308204 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:72308204G>T ENST00000579490.1 + 11 1863 c.1728G>T c.(1726-1728)ctG>ctT p.L576L DNAI2_ENST00000307504.5_Silent_p.L376L|DNAI2_ENST00000311014.6_Silent_p.L519L|DNAI2_ENST00000446837.2_Silent_p.L519L|DNAI2_ENST00000582036.1_Silent_p.L507L Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 519 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGATGCGGCTGAAGGAGAAGG 0.647000 Kartagener syndrome 4 37 2.56e-06 3.09163e-06 1 1 0 MASP1 5648 broad.mit.edu 37 3 186943140 186943140 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:186943140G>A ENST00000337774.5 - 13 2102 c.1713C>T c.(1711-1713)atC>atT p.I571I NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 571 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGGCAGACAGATGGGCATCA 0.582000 63 66 0 0 1 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478932 141478932 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:141478932C>T ENST00000247881.2 + 1 691 c.644C>T c.(643-645)aCt>aTt p.T215I SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 215 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) AAAAATGCCACTGGTTTCTGG 0.443000 4 98 0 0 1 0 0 CD151 977 broad.mit.edu 37 11 838021 838021 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:838021G>T ENST00000397420.3 + 8 944 c.695G>T c.(694-696)tGt>tTt p.C232F CD151_ENST00000528011.1_Missense_Mutation_p.C230F|CD151_ENST00000322008.4_Missense_Mutation_p.C232F|CD151_ENST00000397421.1_Missense_Mutation_p.C232F P48509 CD151_HUMAN CD151 molecule (Raph blood group) 232 cell adhesion|hemidesmosome assembly cytosol|integral to plasma membrane|membrane fraction protein binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCATTGCCTGTGTGCAGGTG 0.667000 7 19 8.12818e-05 9.24046e-05 1 1 0 IRF2BPL 64207 broad.mit.edu 37 14 77492113 77492113 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:77492113G>C ENST00000238647.3 - 1 2921 c.2023C>G c.(2023-2025)Cgt>Ggt p.R675G NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 675 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TCCCCGTTACGTGATGCCAAG 0.677000 9 41 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120435290 120435290 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:120435290G>T ENST00000259526.3 + 5 1219 c.992G>T c.(991-993)tGc>tTc p.C331F RP11-775B15.2_ENST00000519786.1_RNA NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 331 CTCK. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGGGACCTGCACCTGTCAC 0.527000 18 222 2.4624e-09 3.35418e-09 1 1 0 SCG2 7857 broad.mit.edu 37 2 224462640 224462640 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:224462640G>T ENST00000305409.2 - 2 1593 c.1361C>A c.(1360-1362)cCc>cAc p.P454H NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 454 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATATGGATTGGGAAAATACGA 0.478000 22 122 1.96292e-10 2.75319e-10 1 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825135 34825135 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:34825135G>T ENST00000192788.5 + 12 1632 c.1461G>T c.(1459-1461)aaG>aaT p.K487N UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K487N NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 487 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CAAGTAAAAAGCCATCTACAC 0.433000 23 75 1.37657e-19 2.26728e-19 1 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3390072 3390072 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:3390072C>G ENST00000378378.4 + 8 1696 c.1291C>G c.(1291-1293)Ccc>Gcc p.P431A ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P143A|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P135A|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P143A NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 431 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GACCCGGCTGCCCCTCCTGAT 0.682000 23 48 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687041 21687041 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:21687041C>T ENST00000444366.2 + 1 181 c.180C>T c.(178-180)tcC>tcT p.S60S PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron P15863 PAX1_HUMAN paired box 1 83 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GTGTTTTCTCCCCCTCCGGCT 0.667000 17 62 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518250 8518250 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:8518250C>A ENST00000381196.4 - 18 1684 c.1141G>T c.(1141-1143)Gct>Tct p.A381S PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 381 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTTAGTCCAGCGACACTGTAG 0.468000 TSP Lung(15;0.13) 27 88 6.32553e-13 9.35832e-13 1 1 0 PLEKHB2 55041 broad.mit.edu 37 2 131883344 131883344 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:131883344G>T ENST00000403716.1 + 3 616 c.56G>T c.(55-57)tGg>tTg p.W19L PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.W19L|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W19L NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 19 PH. membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) TTGAAGCGCTGGAAGAAGAAC 0.413000 16 70 7.05477e-17 1.11811e-16 1 1 0 TG 7038 broad.mit.edu 37 8 133894758 133894758 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:133894758G>T ENST00000220616.4 + 7 830 c.790G>T c.(790-792)Ggc>Tgc p.G264C TG_ENST00000377869.1_Missense_Mutation_p.G264C NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 264 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CATTTTTGCTGGCCTGGACCT 0.478000 56 217 1.54043e-34 2.74662e-34 1 1 0 C5orf38 153571 broad.mit.edu 37 5 2753469 2753469 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:2753469G>T ENST00000515640.1 + 3 423 c.404G>T c.(403-405)cGg>cTg p.R135L C5orf38_ENST00000397835.4_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.R135L|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Splice_Site_p.R135_splice Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 135 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GCAGGCTCCCGGTAGGCGCGG 0.657000 11 101 0.000978159 0.00105041 1 1 0 FOXB2 442425 broad.mit.edu 37 9 79635163 79635163 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:79635163C>T ENST00000376708.1 + 1 593 c.593C>T c.(592-594)cCc>cTc p.P198L NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 198 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CCGTCACAGCCCCCGCAGCAA 0.766000 9 15 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635233 42635233 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:42635233C>A ENST00000358131.5 + 3 447 c.239C>A c.(238-240)cCg>cAg p.P80Q TOX2_ENST00000423191.1_Missense_Mutation_p.P29Q|TOX2_ENST00000341197.3_Missense_Mutation_p.P71Q|TOX2_ENST00000372999.1_Missense_Mutation_p.P29Q NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 80 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GAGATCCCCCCGATAACACCT 0.587000 22 110 1.28384e-07 1.65628e-07 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99537313 99537313 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:99537313C>T ENST00000376460.1 - 21 2374 c.2294G>A c.(2293-2295)gGa>gAa p.G765E DOCK9_ENST00000442173.1_Missense_Mutation_p.G765E|DOCK9_ENST00000339416.2_Missense_Mutation_p.G766E|DOCK9_ENST00000448493.2_Missense_Mutation_p.G777E NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 766 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACCACCCTTCCGTCTTTCAG 0.507000 11 15 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47587797 47587797 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:47587797G>T ENST00000371917.4 + 10 1331 c.1331G>T c.(1330-1332)gGc>gTc p.G444V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 444 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCCAAAAACGGCGTCTCTTCA 0.438000 12 130 0.00185496 0.00197514 1 1 0 TMEM255A 55026 broad.mit.edu 37 X 119410766 119410766 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:119410766C>T ENST00000371369.4 - 7 875 c.649G>A c.(649-651)Gct>Act p.A217T TMEM255A_ENST00000309720.5_Missense_Mutation_p.A241T|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T NM_001104544.1 NP_001098014.1 transmembrane protein 255A CCAAGGACAGCGGCAGTGATG 0.527000 9 49 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53809911 53809911 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:53809911G>A ENST00000396328.1 - 20 3533 c.3294C>T c.(3292-3294)ccC>ccT p.P1098P WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Silent_p.P1095P|WDR72_ENST00000360509.5_Silent_p.P1098P|WDR72_ENST00000559418.1_Silent_p.P1108P NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1098 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) ACACCTTGCAGGGGCAGACCT 0.363000 21 87 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156294509 156294509 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:156294509G>A ENST00000311277.4 - 4 523 c.260C>T c.(259-261)tCa>tTa p.S87L MAP9_ENST00000379248.2_Missense_Mutation_p.S15L|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S87L NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 87 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CAATAGTTTTGAAGGATTCTT 0.328000 8 38 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247582226 247582226 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:247582226G>T ENST00000366497.2 + 2 910 c.130G>T c.(130-132)Ggt>Tgt p.G44C NLRP3_ENST00000366496.2_Missense_Mutation_p.G44C|NLRP3_ENST00000336119.3_Missense_Mutation_p.G44C|NLRP3_ENST00000391828.3_Missense_Mutation_p.G44C|NLRP3_ENST00000348069.2_Missense_Mutation_p.G44C|NLRP3_ENST00000391827.2_Missense_Mutation_p.G44C|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 44 DAPIN. 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) CCTCCCGAGGGGTCAGACAGA 0.567000 8 47 0.000157383 0.000176531 1 1 0 SLC12A3 6559 broad.mit.edu 37 16 56913528 56913528 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:56913528G>T ENST00000438926.2 + 11 1439 c.1410G>T c.(1408-1410)ctG>ctT p.L470L SLC12A3_ENST00000563236.1_Silent_p.L470L|SLC12A3_ENST00000262502.5_Silent_p.L469L|SLC12A3_ENST00000566786.1_Silent_p.L469L NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 470 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCTCTGCCCTGGCCTGCCTTG 0.637000 5 61 0.0215528 0.0220486 1 1 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32123712 32123712 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32123712T>C ENST00000422437.1 + 5 689 c.498T>C c.(496-498)taT>taC p.Y166Y PPT2_ENST00000395523.1_Silent_p.Y166Y|PPT2_ENST00000375143.2_Silent_p.Y166Y|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000361568.2_Silent_p.Y172Y|PPT2_ENST00000445576.2_Silent_p.Y166Y|PPT2_ENST00000324816.6_Silent_p.Y166Y|PPT2_ENST00000375137.2_Silent_p.Y166Y|PPT2_ENST00000437001.2_Silent_p.Y43Y GGATCTGCTATAGCCCCTGGG 0.537000 10 99 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177250467 177250467 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:177250467C>G ENST00000361539.4 + 8 2467 c.2155C>G c.(2155-2157)Cag>Gag p.Q719E FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 719 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGCACTCTTGCAGCTCATTGA 0.542000 23 162 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50098435 50098435 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:50098435C>T ENST00000418929.2 + 4 855 c.843C>T c.(841-843)gcC>gcT p.A281A NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 17 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTGAGCGGGCCCTGCCACGCC 0.701000 8 10 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122004435 122004435 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:122004435C>A ENST00000265922.3 - 4 930 c.469G>T c.(469-471)Gcc>Tcc p.A157S DBC1_ENST00000373964.2_Missense_Mutation_p.A157S NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 157 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTTTGAGTGGCATTCCCTGAC 0.483000 26 54 9.04412e-07 1.11176e-06 1 1 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 5 67 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95822393 95822393 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:95822393G>A ENST00000416240.2 - 6 761 c.571C>T c.(571-573)Cgc>Tgc p.R191C SLC25A13_ENST00000265631.5_Missense_Mutation_p.R191C|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R83C NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 191 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ACATGGGGGCGGATGGTGACC 0.448000 12 64 0 0 1 0 0 UBL4B 164153 broad.mit.edu 37 1 110655635 110655635 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110655635G>T ENST00000334179.3 + 1 574 c.479G>T c.(478-480)aGc>aTc p.S160I NM_203412.1 NP_981957.1 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 160 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 7 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) CGGCCTCAGAGCTCCTGTGAC 0.597000 5 24 5.9392e-07 7.42155e-07 1 1 0 OR4E2 26686 broad.mit.edu 37 14 22133475 22133475 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:22133475A>T ENST00000408935.1 + 1 179 c.179A>T c.(178-180)tAt>tTt p.Y60F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ACCCCCATGTATTTCTTCCTG 0.418000 76 234 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355306 56355306 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:56355306C>A ENST00000340482.3 - 6 1358 c.1182G>T c.(1180-1182)ctG>ctT p.L394L MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Silent_p.L362L P05164 PERM_HUMAN myeloperoxidase 362 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TGACGGCCAGCAGCCCCAGCT 0.642000 8 58 5.18039e-06 6.21647e-06 1 1 0 CHST8 64377 broad.mit.edu 37 19 34180198 34180198 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:34180198G>A ENST00000262622.3 + 2 789 c.31G>A c.(31-33)Gcc>Acc p.A11T CHST8_ENST00000434302.1_Missense_Mutation_p.A11T|CHST8_ENST00000438847.2_Missense_Mutation_p.A11T|CHST8_ENST00000604556.1_Missense_Mutation_p.A11T NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 11 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) AATGCGGCTGGCCTGCATGTT 0.652000 24 77 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704146 113704146 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:113704146C>A ENST00000374431.3 - 4 731 c.348G>T c.(346-348)ctG>ctT p.L116L LPAR1_ENST00000374430.2_Silent_p.L116L|LPAR1_ENST00000538760.1_Silent_p.L117L|LPAR1_ENST00000358883.4_Silent_p.L116L|LPAR1_ENST00000541779.1_Silent_p.L117L NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 116 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 TGCTAACAGTCAGTCTCCGAG 0.498000 47 91 2.65591e-33 4.7244e-33 1 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20893173 20893173 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:20893173C>T ENST00000381552.1 + 12 1972 c.1604C>T c.(1603-1605)tCa>tTa p.S535L SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S535L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S535L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S417L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S486L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 535 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GGAAATTCCTCAGGCATAGTG 0.373000 34 89 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180675674 180675674 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:180675674G>T ENST00000357559.4 + 10 1332 c.948G>T c.(946-948)gtG>gtT p.V316V FXR1_ENST00000480918.1_Silent_p.V303V|FXR1_ENST00000468861.1_Silent_p.V231V|FXR1_ENST00000305586.7_Silent_p.V231V|FXR1_ENST00000491062.1_Silent_p.V267V|FXR1_ENST00000445140.2_Silent_p.V316V NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 316 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TGGTTCGAGTGAGAATTGAAG 0.323000 43 56 6.7651e-33 1.20057e-32 1 1 0 PREX1 57580 broad.mit.edu 37 20 47246139 47246139 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:47246139G>A ENST00000371941.3 - 37 4636 c.4614C>T c.(4612-4614)gcC>gcT p.A1538A PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871.2 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1538 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTCATCCAGGGCATTGATGG 0.642000 8 72 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256244 15256244 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:15256244G>T ENST00000378116.4 - 8 1349 c.1343C>A c.(1342-1344)aCt>aAt p.T448N FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 448 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCCACTTGGAGTGAGGTTATC 0.502000 9 63 0.00448238 0.00471961 1 1 0 PABPC1 26986 broad.mit.edu 37 8 101718960 101718960 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:101718960G>A ENST00000318607.5 - 11 2649 c.1521C>T c.(1519-1521)acC>acT p.T507T PABPC1_ENST00000522387.1_Silent_p.T475T|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Silent_p.T462T NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 507 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ACTGTGGAACGGTGCGGACAG 0.438000 18 69 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 917141 917141 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:917141G>C ENST00000166345.3 + 13 1578 c.1222G>C c.(1222-1224)Gag>Cag p.E408Q TRIP13_ENST00000510412.1_3'UTR NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 408 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CGTCACCATAGAGGGGTTCCT 0.592000 12 77 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678887 100678887 + Missense_Mutation SNP C C T rs141608296 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:100678887C>T ENST00000306151.4 + 3 4254 c.4190C>T c.(4189-4191)cCg>cTg p.P1397L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1397 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity 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) GGAACCACTCCGTTAACAAGT 0.507000 138 373 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33603269 33603269 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:33603269G>T ENST00000389232.4 + 1 93 c.23G>T c.(22-24)gGc>gTc p.G8V RYR3_ENST00000415757.3_Missense_Mutation_p.G8V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 8 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) GGAGAAGGAGGCGAGGACGAG 0.746000 6 17 1.12685e-05 1.33946e-05 1 1 0 FAF1 11124 broad.mit.edu 37 1 51001120 51001120 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:51001120G>A ENST00000396153.2 - 15 1866 c.1415C>T c.(1414-1416)aCa>aTa p.T472I FAF1_ENST00000545823.1_Missense_Mutation_p.T230I|FAF1_ENST00000371778.4_Missense_Mutation_p.T472I NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 472 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTCATCTACTGTTGTGTTCCC 0.328000 13 68 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102608499 102608499 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:102608499C>T ENST00000393772.2 - 7 987 c.561G>A c.(559-561)ttG>ttA p.L187L FBXL13_ENST00000456695.1_Silent_p.L187L|FBXL13_ENST00000379306.3_Silent_p.L187L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Silent_p.L187L|FBXL13_ENST00000313221.4_Silent_p.L187L|FBXL13_ENST00000436908.1_Silent_p.L187L|FBXL13_ENST00000379305.3_Silent_p.L187L|FBXL13_ENST00000379308.3_Silent_p.L187L Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 187 F-box. NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GTTGTGTCATCAACATCCAGG 0.343000 9 67 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36489584 36489584 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:36489584A>T ENST00000229812.7 - 5 602 c.317T>A c.(316-318)gTt>gAt p.V106D NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 106 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTCTTCTGAACAAGCCGTAC 0.358000 12 60 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221326 5221326 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:5221326C>A ENST00000321255.1 - 1 604 c.605G>T c.(604-606)cGa>cTa p.R202L NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R202P(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTATTGAATCGGATGTCTGA 0.408000 17 42 0.000958276 0.0010379 1 1 0 GMEB1 10691 broad.mit.edu 37 1 29030804 29030804 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:29030804T>C ENST00000373816.1 + 8 969 c.831T>C c.(829-831)gtT>gtC p.V277V GMEB1_ENST00000294409.2_Silent_p.V287V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.V277V NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TCAGGGGAGTTCAGCAGCGGC 0.478000 10 62 0 0 1 0 0 SDF2 6388 broad.mit.edu 37 17 26982498 26982498 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:26982498C>A ENST00000247020.4 - 2 453 c.155G>T c.(154-156)aGt>aTt p.S52I SDF2_ENST00000592250.1_5'UTR NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 52 MIR 1. protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Lung NSC(42;0.00431) CTGCTGCCCACTACCTGCAGT 0.517000 33 115 3.11337e-16 4.88322e-16 1 1 0 ELMSAN1 91748 broad.mit.edu 37 14 74206049 74206049 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:74206049G>A ENST00000286523.5 - 2 1445 c.663C>T c.(661-663)ttC>ttT p.F221F ELMSAN1_ENST00000394071.2_Silent_p.F221F NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 CCTGGTGGCCGAATGCCAGCT 0.652000 7 71 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119002578 119002578 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:119002578G>T ENST00000350777.2 + 5 625 c.562G>T c.(562-564)Gag>Tag p.E188* HINFP_ENST00000527410.1_Nonsense_Mutation_p.E188*|HINFP_ENST00000527354.1_3'UTR NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 188 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TAAACTTCGAGAGCACCTCCG 0.547000 23 57 7.87624e-14 1.18851e-13 1 1 0 TRIM15 89870 broad.mit.edu 37 6 30139640 30139640 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:30139640C>A ENST00000376694.4 + 7 1381 c.912C>A c.(910-912)agC>agA p.S304R TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 304 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 AGACCGCCAGCCGGAGCCTGG 0.642000 5 10 0.014758 0.015159 1 1 0 UBXN1 51035 broad.mit.edu 37 11 62446030 62446030 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:62446030C>G ENST00000294119.2 - 3 288 c.157G>C c.(157-159)Gag>Cag p.E53Q UBXN1_ENST00000301935.5_Missense_Mutation_p.E53Q|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E53Q NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 53 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 AGGGGAGTCTCTAAAGGCTCG 0.617000 5 92 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039487 248039487 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:248039487T>A ENST00000366481.3 + 6 1205 c.1157T>A c.(1156-1158)cTg>cAg p.L386Q OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 386 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCCTGTGGCTGCTGAAAGGG 0.547000 68 113 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 21875246 21875246 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:21875246G>T ENST00000377072.3 + 4 612 c.264G>T c.(262-264)aaG>aaT p.K88N MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000446906.2_Missense_Mutation_p.K88N|MLLT10_ENST00000307729.7_Missense_Mutation_p.K88N|MLLT10_ENST00000377059.3_Missense_Mutation_p.K88N NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 88 Self-association. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GTCCCCATAAGGATGGAGCTT 0.308000 T """MLL, PICALM, CDK6""" AL 4 15 0.184627 0.185857 1 1 0 CASS4 57091 broad.mit.edu 37 20 55027161 55027161 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:55027161C>T ENST00000371336.3 + 5 1130 c.929C>T c.(928-930)cCt>cTt p.P310L CASS4_ENST00000360314.3_Missense_Mutation_p.P310L|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 310 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCAGAAATTCCTTCTTATGGC 0.463000 25 53 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9382142 9382142 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:9382142C>A ENST00000378501.2 + 17 1531 c.1516C>A c.(1516-1518)Caa>Aaa p.Q506K PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.Q506K|PLCB4_ENST00000378473.3_Missense_Mutation_p.Q506K|PLCB4_ENST00000414679.2_Missense_Mutation_p.Q506K|PLCB4_ENST00000378493.1_Missense_Mutation_p.Q506K|PLCB4_ENST00000334005.3_Missense_Mutation_p.Q506K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 506 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CACAGCTGACCAAGAGGAGGA 0.438000 3 36 0.150653 0.152061 1 1 0 NOS1 4842 broad.mit.edu 37 12 117768676 117768676 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:117768676C>T ENST00000317775.6 - 2 884 c.199G>A c.(199-201)Gtc>Atc p.V67I NOS1_ENST00000338101.4_Missense_Mutation_p.V67I|NOS1_ENST00000344089.3_Missense_Mutation_p.V67I NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 67 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CGGCCGTTGACCGCAAGAATG 0.632000 25 36 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 419036 419036 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:419036C>G ENST00000264554.6 - 12 1640 c.1641G>C c.(1639-1641)ctG>ctC p.L547L NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 547 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCTCTCAAACAGCACGTCCT 0.652000 4 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046547 9046547 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9046547G>T ENST00000397910.4 - 5 35287 c.35084C>A c.(35083-35085)cCa>cAa p.P11695Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11697 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTGGTCTGTGGAGGATGAGT 0.522000 45 75 5.44703e-19 8.8749e-19 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132808 91132808 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:91132808T>A ENST00000373094.1 + 2 2414 c.1569T>A c.(1567-1569)acT>acA p.T523T PCDH11X_ENST00000406881.1_Silent_p.T523T|PCDH11X_ENST00000395337.2_Silent_p.T523T|PCDH11X_ENST00000361655.2_Silent_p.T523T|PCDH11X_ENST00000361724.1_Silent_p.T523T|PCDH11X_ENST00000373097.1_Silent_p.T523T|PCDH11X_ENST00000298274.8_Silent_p.T523T|PCDH11X_ENST00000373088.1_Silent_p.T523T|PCDH11X_ENST00000504220.1_Silent_p.T523T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 523 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GCATGCTGACTGTAGTGAAGA 0.438000 10 32 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966598 58966598 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:58966598G>C ENST00000391696.1 + 3 1189 c.257G>C c.(256-258)cGa>cCa p.R86P ZNF324B_ENST00000545523.1_Missense_Mutation_p.R96P|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R96P Q6AW86 Z324B_HUMAN zinc finger protein 324B 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GAATGGCCACGAGCTTTCCCA 0.557000 43 86 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201436296 201436296 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:201436296G>A ENST00000357799.4 + 7 1325 c.1227G>A c.(1225-1227)aaG>aaA p.K409K NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 409 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 CTGAAAAAAAGAGAGAAAGAT 0.328000 6 59 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113187949 113187949 + Silent SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:113187949T>G ENST00000295872.4 - 8 1007 c.748A>C c.(748-750)Aga>Cga p.R250R NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 250 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 AACAAACCTCTTTGCTCCCCT 0.388000 20 52 0 0 1 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20169985 20169985 + RNA SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:20169985C>A ENST00000338912.5 - 0 286 GTAGGCTGTGCCCATGGATGT 0.527000 83 166 9.61239e-26 1.65913e-25 1 1 0 CHRND 1144 broad.mit.edu 37 2 233398942 233398942 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:233398942C>T ENST00000258385.3 + 11 1293 c.1261C>T c.(1261-1263)Cca>Tca p.P421S CHRND_ENST00000543200.1_Missense_Mutation_p.P406S|CHRND_ENST00000457943.2_Missense_Mutation_p.P227S NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 421 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AGGCCGGCCCCCAGCAAGCTC 0.602000 14 55 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726357 168726357 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:168726357C>A ENST00000305861.1 + 2 1159 c.808C>A c.(808-810)Ctg>Atg p.L270M B3GALT1_ENST00000392690.2_Missense_Mutation_p.L270M|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 270 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 ATATGTGGGACTGTGTCTTCG 0.473000 23 67 1.55795e-14 2.38906e-14 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139155262 139155262 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:139155262G>T ENST00000395297.1 - 16 3801 c.3631C>A c.(3631-3633)Cga>Aga p.R1211R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1211 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCTAATTCGGGATATGGAG 0.398000 HNSCC(54;0.14) 12 53 2.27111e-07 2.90027e-07 1 1 0 TIFAB 497189 broad.mit.edu 37 5 134785511 134785511 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:134785511C>T ENST00000537858.1 - 2 319 c.119G>A c.(118-120)cGg>cAg p.R40Q NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 40 FHA. breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCCTGCCCCCGTCCGAGAAG 0.662000 4 56 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880652 12880652 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:12880652A>G ENST00000155926.4 + 3 2183 c.764A>G c.(763-765)cAt>cGt p.H255R TRIB2_ENST00000381465.2_Missense_Mutation_p.H119R NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 255 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TACCCTTTCCATGACATTGAA 0.572000 9 28 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171252285 171252285 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:171252285G>T ENST00000354841.4 + 7 1317 c.1186G>T c.(1186-1188)Gta>Tta p.V396L FMO1_ENST00000402921.2_Missense_Mutation_p.V333L|FMO1_ENST00000367750.3_Missense_Mutation_p.V396L|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 396 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCCTACAGGTGTAAATAAGTT 0.358000 32 77 1.61788e-16 2.54816e-16 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622838 20622838 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:20622838C>T ENST00000525748.1 + 2 440 c.167C>T c.(166-168)tCc>tTc p.S56F NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 56 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGGTCCGCTTCCACCGGCGCC 0.736000 4 10 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267460 1267460 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:1267460G>A ENST00000447027.1 + 31 9417 c.9359G>A c.(9358-9360)aGg>aAg p.R3120K MUC5B_ENST00000529681.1_Missense_Mutation_p.R3117K|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3117 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.R3117L(1)|p.R3096L(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCACGACAAGGGCCACCAGT 0.637000 21 84 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186645624 186645624 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:186645624G>T ENST00000367468.5 - 7 1081 c.945C>A c.(943-945)ttC>ttA p.F315L PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 315 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TGCTTGTCTGGAACAACTGCT 0.423000 38 160 1.58521e-26 2.75498e-26 1 1 0 TTN 7273 broad.mit.edu 37 2 179639156 179639156 + Missense_Mutation SNP G G T rs143679901 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179639156G>T ENST00000589042.1 - 30 7059 c.6835C>A c.(6835-6837)Cca>Aca p.P2279T TTN_ENST00000342175.6_Missense_Mutation_p.P2233T|TTN_ENST00000359218.5_Missense_Mutation_p.P2233T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P2233T|TTN_ENST00000360870.5_Missense_Mutation_p.P2279T|TTN_ENST00000591111.1_Missense_Mutation_p.P2279T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2003 Ig-like 12. 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) TATGATTCTGGAACTTCTATG 0.348000 7 67 8.12818e-05 9.24046e-05 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141709 29141709 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:29141709G>T ENST00000377167.2 + 1 399 c.297G>T c.(295-297)atG>atT p.M99I NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTGGTTGCATGGTTCAACTTT 0.478000 51 196 3.4597e-24 5.89084e-24 1 1 0 C17orf78 284099 broad.mit.edu 37 17 35745728 35745728 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:35745728C>A ENST00000300618.4 + 5 682 c.633_splice c.e5+1 p.P211_splice ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000589665.1_Intron|ACACA_ENST00000353139.5_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 211 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) GTCCCATGTCCTGTAAGTTTG 0.398000 8 19 0.000157383 0.000176531 1 1 0 TFAP2D 83741 broad.mit.edu 37 6 50740545 50740545 + Missense_Mutation SNP G G C rs78823892 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:50740545G>C ENST00000008391.3 + 8 1555 c.1327G>C c.(1327-1329)Gtg>Ctg p.V443L NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 443 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AGAGGCTGCCGTGAAAGAGGG 0.453000 3 37 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61957912 61957912 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:61957912C>T ENST00000332800.7 - 4 809 c.676G>A c.(676-678)Gct>Act p.A226T GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 AGAGGCCAAGCGCTTGGGCAC 0.532000 22 90 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944779 47944779 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:47944779T>A ENST00000289672.2 - 11 1716 c.1666A>T c.(1666-1668)Aaa>Taa p.K556* NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 556 PKD 1. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGTCTTTTTTTAATGCTTCTT 0.433000 57 71 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173998697 173998697 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:173998697G>C ENST00000457714.1 + 7 2505 c.2076G>C c.(2074-2076)ttG>ttC p.L692F NLGN1_ENST00000545397.1_Missense_Mutation_p.L692F|NLGN1_ENST00000401917.3_Missense_Mutation_p.L732F|NLGN1_ENST00000361589.4_Missense_Mutation_p.L692F NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 709 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGAACATCTTGGCCTTTGCAG 0.463000 47 55 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104427550 104427550 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:104427550G>T ENST00000297579.5 + 1 609 c.332G>T c.(331-333)cGc>cTc p.R111L NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CCAGCAGGCCGCCGCTCCGCG 0.637000 22 53 1.50039e-11 2.16469e-11 1 1 0 USH2A 7399 broad.mit.edu 37 1 215848172 215848172 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:215848172G>T ENST00000366943.2 - 63 13467 c.13081C>A c.(13081-13083)Cct>Act p.P4361T USH2A_ENST00000307340.3_Missense_Mutation_p.P4361T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4361 Fibronectin type-III 29. 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) AGATCTGGAGGGCTGACTTCT 0.488000 HNSCC(13;0.011) 18 50 3.99206e-14 6.04809e-14 1 1 0 OR1L1 26737 broad.mit.edu 37 9 125424286 125424286 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:125424286C>G ENST00000373686.1 + 1 442 c.442C>G c.(442-444)Ctg>Gtg p.L148V Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CAGTGAGTGTCTGACCCAGAT 0.438000 17 258 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86088367 86088367 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:86088367T>A ENST00000377332.3 - 3 363 c.255A>T c.(253-255)ttA>ttT p.L85F ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L85F|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L57F|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L62F NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 85 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 TAGTATAATTTAACTTGAGGA 0.333000 30 53 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066400 70066400 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:70066400G>A ENST00000446444.1 - 6 1356 c.1348C>T c.(1348-1350)Cat>Tat p.H450Y RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 450 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GGTTGATCATGTTGAATTCTT 0.383000 27 88 0 0 1 0 0 C3orf72 401089 broad.mit.edu 37 3 138668464 138668464 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:138668464C>G ENST00000383165.3 + 2 334 c.203C>G c.(202-204)tCg>tGg p.S68W NM_001040061.2 NP_001035150.1 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 68 large_intestine(1)|lung(3) 4 GTCCGGCATTCGAAGGCTCAG 0.577000 39 39 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21856246 21856246 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:21856246C>A ENST00000328843.6 + 65 10546 c.10515C>A c.(10513-10515)ccC>ccA p.P3505P DNAH11_ENST00000409508.3_Silent_p.P3498P Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3505 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P3505P(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGATAGATCCCCAGCAACAGG 0.488000 Kartagener syndrome 14 28 4.14922e-12 6.04395e-12 1 1 0 FANCM 57697 broad.mit.edu 37 14 45605157 45605157 + Translation_Start_Site SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45605157G>A ENST00000267430.5 + 0 8 FANCM_ENST00000556036.1_De_novo_Start_OutOfFrame|FANCM_ENST00000542564.2_5'UTR NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAAGGAAACCGATGGGGATCG 0.532000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 39 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324822 150324822 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:150324822C>A ENST00000328902.5 - 3 1080 c.864G>T c.(862-864)ggG>ggT p.G288G GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding p.G288G(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTCAGCCTTCCCCAGCAGGC 0.582000 16 77 1.15088e-07 1.48729e-07 1 1 0 PCED1B 91523 broad.mit.edu 37 12 47629773 47629773 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:47629773C>A ENST00000546455.1 + 4 1658 c.927C>A c.(925-927)cgC>cgA p.R309R PCED1B_ENST00000432328.1_Silent_p.R309R PC-esterase domain containing 1B caccccagcgcttgccgctgc 0.647000 20 40 4.35082e-09 5.89465e-09 1 1 0 TRIO 7204 broad.mit.edu 37 5 14481375 14481375 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:14481375G>T ENST00000344204.4 + 44 6393 c.6369G>T c.(6367-6369)ctG>ctT p.L2123L TRIO_ENST00000537187.1_Silent_p.L2123L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2123 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGGCCAGCCTGGATACATCAG 0.468000 22 277 3.62473e-10 5.02807e-10 1 1 0 SNX7 51375 broad.mit.edu 37 1 99161072 99161072 + Splice_Site SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:99161072A>T ENST00000370189.5 + 6 811 c.e6-1 SNX7_ENST00000306121.3_Splice_Site|SNX7_ENST00000529992.1_Splice_Site Q9UNH6 SNX7_HUMAN sorting nexin 7 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTTTGTTTCTAGGAACTCTCT 0.393000 18 45 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143098433 143098433 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:143098433C>A ENST00000275815.3 - 3 502 c.416G>T c.(415-417)cGg>cTg p.R139L NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 139 integral to plasma membrane ATP binding|ephrin receptor activity p.R139Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GAACAAGGGCCGTCGGAGCTG 0.587000 11 94 1.58986e-06 1.93237e-06 1 1 0 MYF5 4617 broad.mit.edu 37 12 81112716 81112716 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:81112716G>T ENST00000228644.3 + 3 806 c.654G>T c.(652-654)gaG>gaT p.E218D NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 218 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCTCCTCAGAGCAACCTGGGT 0.493000 29 65 9.80776e-20 1.62246e-19 1 1 0 FAT3 120114 broad.mit.edu 37 11 92531031 92531031 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92531031C>A ENST00000298047.6 + 9 4869 c.4852C>A c.(4852-4854)Ccg>Acg p.P1618T FAT3_ENST00000409404.2_Missense_Mutation_p.P1618T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1468T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1618 Cadherin 15. 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) TAAGATCGAACCGGTCCTAGG 0.418000 TCGA Ovarian(4;0.039) 21 109 2.21704e-12 3.24193e-12 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238283178 238283178 + Missense_Mutation SNP C C T rs144976132 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238283178C>T ENST00000295550.4 - 8 4008 c.3556G>A c.(3556-3558)Gtg>Atg p.V1186M COL6A3_ENST00000392004.3_Missense_Mutation_p.V980M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V579M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V980M|COL6A3_ENST00000392003.2_Missense_Mutation_p.V779M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V985M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V986M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V980M NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1186 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAATGGCCACGGCAAAGTCC 0.622000 7 52 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33603268 33603268 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:33603268G>T ENST00000389232.4 + 1 92 c.22G>T c.(22-24)Ggc>Tgc p.G8C RYR3_ENST00000415757.3_Missense_Mutation_p.G8C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 8 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) GGGAGAAGGAGGCGAGGACGA 0.741000 7 17 3.09899e-07 3.93753e-07 1 1 0 PPRC1 23082 broad.mit.edu 37 10 103906433 103906433 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:103906433C>T ENST00000278070.2 + 9 3723 c.3684C>T c.(3682-3684)ctC>ctT p.L1228L PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Silent_p.L195L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCACAGGGCTCACCCCTCCAG 0.577000 36 93 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175912 140175912 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140175912T>A ENST00000526136.1 + 1 1363 c.1363T>A c.(1363-1365)Ttc>Atc p.F455I PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F455I|PCDHA2_ENST00000520672.2_Missense_Mutation_p.F455I|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCCGGCGTTCGCACAGCC 0.652000 28 62 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841503 208841503 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:208841503G>C ENST00000457206.1 - 3 1845 c.1418C>G c.(1417-1419)cCc>cGc p.P473R PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P473R|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P473R Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 473 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTGATCCTTGGGTTTGTTCCT 0.502000 7 43 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480527 123480527 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:123480527A>C ENST00000529750.1 + 12 1580 c.1253A>C c.(1252-1254)aAg>aCg p.K418T GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K418T|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K109T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K425T NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 418 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCATGGAAAAAGGAGGAGAAT 0.527000 3 17 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77942393 77942393 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:77942393G>T ENST00000393684.3 - 8 1388 c.997C>A c.(997-999)Cag>Aag p.Q333K ISM2_ENST00000429906.1_Missense_Mutation_p.Q340K|ISM2_ENST00000412904.1_Missense_Mutation_p.Q340K|ISM2_ENST00000342219.4_Missense_Mutation_p.Q421K|ISM2_ENST00000493585.1_3'UTR Q6H9L7 ISM2_HUMAN isthmin 2 421 TSP type-1. extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 CGCAGCATCTGGCTCAGATAC 0.602000 17 45 6.94344e-10 9.54408e-10 1 1 0 PCF11 51585 broad.mit.edu 37 11 82877481 82877481 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:82877481G>T ENST00000298281.4 + 5 1994 c.1542G>T c.(1540-1542)tcG>tcT p.S514S NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 514 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex p.S514S(1)|p.S613S(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CTCCAACATCGACACCTAAAG 0.448000 38 117 8.16277e-20 1.35628e-19 1 1 0 USH2A 7399 broad.mit.edu 37 1 216465522 216465522 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:216465522G>A ENST00000366943.2 - 10 2221 c.1835C>T c.(1834-1836)aCt>aTt p.T612I USH2A_ENST00000366942.3_Missense_Mutation_p.T612I|USH2A_ENST00000307340.3_Missense_Mutation_p.T612I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 612 Laminin EGF-like 2. 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) CTTACCTGTAGTGTTATGCTC 0.383000 HNSCC(13;0.011) 33 121 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712470 32712470 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:32712470C>A ENST00000265074.8 + 1 931 c.588C>A c.(586-588)caC>caA p.H196Q NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.H196Q|NPR3_ENST00000415685.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 196 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GCCACCACCACTGGAGCCGCG 0.642000 9 111 5.68852e-11 8.08369e-11 1 1 0 PSMB11 122706 broad.mit.edu 37 14 23511515 23511515 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23511515G>T ENST00000408907.2 + 1 140 c.81G>T c.(79-81)tgG>tgT p.W27C NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) CTGGCGGCTGGGCTGTGCCCC 0.642000 7 113 2.0095e-06 2.43458e-06 1 1 0 ANK1 286 broad.mit.edu 37 8 41530184 41530184 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:41530184G>T ENST00000396942.1 - 38 4867 c.4784C>A c.(4783-4785)gCc>gAc p.A1595D ANK1_ENST00000352337.4_Missense_Mutation_p.A1595D|ANK1_ENST00000265709.8_Missense_Mutation_p.A1636D|ANK1_ENST00000289734.7_Missense_Mutation_p.A1595D|ANK1_ENST00000379758.2_Missense_Mutation_p.A1595D|ANK1_ENST00000396945.1_Missense_Mutation_p.A1595D|ANK1_ENST00000347528.4_Missense_Mutation_p.A1595D P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1595 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGACCTGTGGCATCAGAGTC 0.597000 77 83 1.25089e-41 2.2516e-41 1 1 0 WASF1 8936 broad.mit.edu 37 6 110434599 110434599 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:110434599G>T ENST00000392589.1 - 5 1034 c.198C>A c.(196-198)gtC>gtA p.V66V WASF1_ENST00000392587.2_Silent_p.V66V|WASF1_ENST00000392588.1_Silent_p.V66V|WASF1_ENST00000392586.1_Silent_p.V66V|WASF1_ENST00000359451.2_Silent_p.V66V NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 66 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GCAATGAGTTGACTCTGAAGG 0.308000 9 18 0.000274275 0.000301384 1 1 0 LPHN2 23266 broad.mit.edu 37 1 82421638 82421638 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:82421638A>G ENST00000370728.1 + 13 2544 c.1899A>G c.(1897-1899)caA>caG p.Q633Q LPHN2_ENST00000370725.1_Silent_p.Q633Q|LPHN2_ENST00000359929.3_Silent_p.Q620Q|LPHN2_ENST00000370717.2_Silent_p.Q633Q|LPHN2_ENST00000370727.1_Silent_p.Q633Q|LPHN2_ENST00000319517.6_Silent_p.Q620Q|LPHN2_ENST00000394879.1_Silent_p.Q620Q|LPHN2_ENST00000271029.4_Silent_p.Q633Q|LPHN2_ENST00000370730.1_Silent_p.Q633Q|LPHN2_ENST00000335786.5_Silent_p.Q633Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.Q620Q|LPHN2_ENST00000370723.1_Silent_p.Q620Q|LPHN2_ENST00000370721.1_Silent_p.Q558Q|LPHN2_ENST00000370713.1_Silent_p.Q620Q O95490 LPHN2_HUMAN latrophilin 2 633 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTTCTGAACAAGCACATACTG 0.403000 17 99 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130111211 130111211 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:130111211G>T ENST00000373387.4 + 17 1792 c.1440G>T c.(1438-1440)gaG>gaT p.E480D GARNL3_ENST00000435213.2_Missense_Mutation_p.E458D|GARNL3_ENST00000314904.5_Missense_Mutation_p.E480D NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 480 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 AGCCGTGGGAGCCCCAGTGTT 0.522000 25 43 3.28513e-13 4.86972e-13 1 1 0 KLHL14 57565 broad.mit.edu 37 18 30349625 30349625 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:30349625C>A ENST00000359358.4 - 2 1368 c.930G>T c.(928-930)agG>agT p.R310S KLHL14_ENST00000358095.4_Missense_Mutation_p.R310S NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 310 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CCAGGCTCTGCCTGCAGTGCT 0.657000 8 49 0.00448238 0.00471961 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158606521 158606521 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:158606521G>A ENST00000368148.3 - 37 5400 c.5220C>T c.(5218-5220)gaC>gaT p.D1740D SPTA1_ENST00000368147.3_Silent_p.D1740D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1740 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) CTCTCCCATAGTCCTGGGAGC 0.483000 56 145 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42745405 42745405 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:42745405T>A ENST00000409122.2 + 5 2268 c.2126T>A c.(2125-2127)tTa>tAa p.L709* C17orf104_ENST00000409464.1_Nonsense_Mutation_p.L543*|C17orf104_ENST00000359945.3_Nonsense_Mutation_p.L709* NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 709 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 TCCTATGACTTACTTTCTTAT 0.368000 8 16 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126241676 126241676 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:126241676G>C ENST00000394329.3 + 1 4123 c.4110G>C c.(4108-4110)ggG>ggC p.G1370G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1370 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAACACTGGGAGTATTTTTC 0.368000 25 152 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61898026 61898026 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:61898026A>T ENST00000394818.3 + 4 1229 c.1027A>T c.(1027-1029)Act>Tct p.T343S INCENP_ENST00000278849.4_Missense_Mutation_p.T343S NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 343 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TGCCAAGAAGACTGCCGAAGA 0.607000 11 72 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494372 106494372 + RNA SNP G G T rs1065546 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:106494372G>T ENST00000390597.2 - 0 139 AGAAGGTGCAGGTCAGCGTGA 0.552000 16 47 0.0332995 0.0339278 1 1 0 IGHA2 3494 broad.mit.edu 37 14 106054725 106054725 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:106054725G>T ENST00000390539.2 - 0 7 GGGGCTGGTCGGGGATGCTGG 0.642000 11 66 1.61879e-10 2.27897e-10 1 1 0 RYR1 6261 broad.mit.edu 37 19 38948812 38948812 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:38948812G>A ENST00000355481.4 + 18 2178 c.2047G>A c.(2047-2049)Gtg>Atg p.V683M RYR1_ENST00000359596.3_Missense_Mutation_p.V683M|RYR1_ENST00000360985.3_Missense_Mutation_p.V683M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 683 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCACTTGCGGGTGGGCTGGGC 0.647000 29 59 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180675675 180675675 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:180675675A>T ENST00000357559.4 + 10 1333 c.949A>T c.(949-951)Aga>Tga p.R317* FXR1_ENST00000480918.1_Nonsense_Mutation_p.R304*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R232*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R232*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R268*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R317* NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 317 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GGTTCGAGTGAGAATTGAAGG 0.318000 42 55 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086401 92086401 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92086401A>T ENST00000298047.6 + 1 1140 c.1123A>T c.(1123-1125)Aga>Tga p.R375* FAT3_ENST00000409404.2_Nonsense_Mutation_p.R375*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R225*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R375* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 375 Cadherin 3. 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) TGTCCCCATTAGATTTGAAAA 0.418000 TCGA Ovarian(4;0.039) 12 37 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839516 128839516 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:128839516C>T ENST00000310343.9 - 22 5549 c.5550G>A c.(5548-5550)ccG>ccA p.P1850P ARHGAP32_ENST00000392657.3_Silent_p.P1501P|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.P1501P NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1850 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ATGGCTTCTCCGGCTGCGTGC 0.607000 10 74 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27550111 27550111 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:27550111C>A ENST00000359541.2 - 18 2879 c.2450G>T c.(2449-2451)cGc>cTc p.R817L GTF3C2_ENST00000264720.3_Missense_Mutation_p.R817L Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 817 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTGCATGCGCAGCATTGG 0.507000 5 39 1.23904e-05 1.4682e-05 1 1 0 FLG2 388698 broad.mit.edu 37 1 152327665 152327665 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152327665C>T ENST00000388718.5 - 3 2669 c.2597G>A c.(2596-2598)gGa>gAa p.G866E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 866 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGTCTGTCCCGAACTTGA 0.493000 176 544 0 0 1 0 0 FAM221A 340277 broad.mit.edu 37 7 23728907 23728907 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:23728907G>T ENST00000344962.4 + 3 348 c.259G>T c.(259-261)Gac>Tac p.D87Y FAM221A_ENST00000409653.1_Missense_Mutation_p.D29Y|FAM221A_ENST00000409994.3_Missense_Mutation_p.D29Y|FAM221A_ENST00000409192.3_Missense_Mutation_p.D87Y NM_199136.3 NP_954587.2 A4D161 CG046_HUMAN family with sequence similarity 221, member A 87 ACATAAAACTGACTTGGAAGC 0.398000 24 71 8.24728e-16 1.28556e-15 1 1 0 GTF2I 2969 broad.mit.edu 37 7 74133245 74133245 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:74133245G>A ENST00000324896.4 + 12 1317 c.928G>A c.(928-930)Gag>Aag p.E310K AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.E290K|GTF2I_ENST00000346152.4_Intron|GTF2I_ENST00000416070.1_Intron NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 310 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 CCCTGAAGTTGAGGTGACTAT 0.318000 4 26 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202127 140202127 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140202127G>T ENST00000529859.1 + 1 767 c.767G>T c.(766-768)aGt>aTt p.S256I PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S256I|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S256I NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGCACCAAGTGGGACATTA 0.358000 30 58 2.42023e-17 3.89297e-17 1 1 0 CSN2 1447 broad.mit.edu 37 4 70823394 70823394 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:70823394C>A ENST00000353151.3 - 5 284 c.273G>T c.(271-273)ctG>ctT p.L91L NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 91 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GAGGGACAGGCAGCACCACAG 0.483000 16 114 1.99824e-07 2.56045e-07 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18868817 18868817 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:18868817C>T ENST00000406451.3 + 18 2497 c.2347C>T c.(2347-2349)Cac>Tac p.H783Y HDAC9_ENST00000401921.1_Missense_Mutation_p.H742Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H783Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.H786Y NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 783 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCCTGGCCATCACGCTGAAGA 0.527000 15 104 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446863 10446863 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:10446863A>G ENST00000326756.3 - 3 1528 c.1090T>C c.(1090-1092)Ttt>Ctt p.F364L NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TCCAGCGGAAACAGTTTCAGA 0.423000 46 148 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71252771 71252771 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:71252771C>T ENST00000395275.2 - 7 1163 c.775G>A c.(775-777)Ggc>Agc p.G259S CALN1_ENST00000329008.5_Missense_Mutation_p.G217S|CALN1_ENST00000431984.1_Missense_Mutation_p.G217S|CALN1_ENST00000412588.1_Missense_Mutation_p.G259S|CALN1_ENST00000395276.2_Missense_Mutation_p.G217S|CALN1_ENST00000405452.2_Missense_Mutation_p.G217S NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 217 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TACTCCATGCCGCTCCGGAGT 0.592000 11 31 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85277694 85277694 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:85277694C>G ENST00000450363.3 - 5 1158 c.700G>C c.(700-702)Gct>Cct p.A234P SLC6A15_ENST00000552192.1_Missense_Mutation_p.A127P|SLC6A15_ENST00000266682.5_Missense_Mutation_p.A234P|SLC6A15_ENST00000551388.1_Intron NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 234 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 ACCCAGGCAGCCAACAAGCAG 0.443000 8 22 0 0 1 0 0 STMN2 11075 broad.mit.edu 37 8 80577088 80577088 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:80577088C>T ENST00000220876.7 + 5 901 c.519C>T c.(517-519)ctC>ctT p.L173L STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.L162L NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 173 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) ACAAGGAACTCCAGGTTGAAC 0.498000 10 34 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133792462 133792462 + Splice_Site SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:133792462A>T ENST00000321016.8 - 16 2512 c.e16+1 IGSF9B_ENST00000533871.2_Splice_Site Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 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) ACAGACACCCACCTTTTTTGC 0.557000 4 28 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511514 23511514 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23511514G>C ENST00000408907.2 + 1 139 c.80G>C c.(79-81)tGg>tCg p.W27S NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GCTGGCGGCTGGGCTGTGCCC 0.637000 6 113 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76421479 76421479 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:76421479G>T ENST00000389840.5 - 80 13282 c.13158C>A c.(13156-13158)gaC>gaA p.D4386E DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D4358E dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGCGGTCATGTCCTCTCGGT 0.567000 13 86 6.21321e-17 9.86804e-17 1 1 0 IGHV3-73 28409 broad.mit.edu 37 14 107211181 107211181 + RNA SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:107211181G>C ENST00000390636.2 - 0 187 AGAGTTTCAGGGACCCCCCAG 0.622000 36 141 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 5 0 0 1 0 0 ATP5E 514 broad.mit.edu 37 20 57605379 57605379 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:57605379C>T ENST00000243997.3 - 2 268 c.138G>A c.(136-138)gtG>gtA p.V46V ATP5E_ENST00000395663.1_Silent_p.V46V|ATP5E_ENST00000395659.1_Silent_p.V46V NM_006886.3 NP_008817.1 P56381 ATP5E_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 46 respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) TCTTTACTTTCACAATTTTTA 0.348000 8 55 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219563383 219563383 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:219563383G>T ENST00000295709.3 + 26 3395 c.3116G>T c.(3115-3117)cGc>cTc p.R1039L STK36_ENST00000440309.1_Missense_Mutation_p.R1039L|STK36_ENST00000392105.3_Missense_Mutation_p.R1018L|STK36_ENST00000392106.2_Missense_Mutation_p.R1018L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1039 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTTCTCACACGCCTGGCCCTC 0.537000 54 190 5.22555e-25 8.95809e-25 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141526889 141526889 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:141526889G>A ENST00000389484.3 - 35 6622 c.5651C>T c.(5650-5652)tCt>tTt p.S1884F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1884 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCATGAACAGAGTACATAAG 0.388000 TSP Lung(27;0.18) 19 51 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23876424 23876424 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:23876424A>G ENST00000405093.3 - 3 79 c.9T>C c.(7-9)gaT>gaC p.D3D MYH6_ENST00000356287.3_Silent_p.D3D NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 3 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCATCTGGGCATCGGTCATCT 0.617000 17 115 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411594 51411594 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:51411594T>C ENST00000319760.6 - 1 854 c.802A>G c.(802-804)Atg>Gtg p.M268V NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AACACAGTCATGAACTTATCA 0.368000 11 76 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23405513 23405513 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:23405513C>A ENST00000418100.1 - 4 1651 c.1534G>T c.(1534-1536)Ggc>Tgc p.G512C endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 AAAGCTTTGCCACATTCTTTA 0.373000 17 28 1.99824e-07 2.56045e-07 1 1 0 PCSK7 9159 broad.mit.edu 37 11 117100470 117100470 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:117100470G>T ENST00000320934.3 - 3 721 c.91C>A c.(91-93)Ctg>Atg p.L31M NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 31 peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) CAGGGAACCAGTAAGAAGAGC 0.652000 T IGH@ MLCLS 14 37 7.93312e-07 9.78375e-07 1 1 0 TBX21 30009 broad.mit.edu 37 17 45822141 45822141 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:45822141C>A ENST00000177694.1 + 6 1228 c.1017C>A c.(1015-1017)atC>atA p.I339I NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 339 I -> V (in dbSNP:rs12721471). lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACACCAGCATCCCCTCCCCGC 0.527000 37 151 1.69901e-12 2.48925e-12 1 1 0 PROKR2 128674 broad.mit.edu 37 20 5294979 5294979 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:5294979T>G ENST00000546004.1 - 2 283 c.37A>C c.(37-39)Aac>Cac p.N13H PROKR2_ENST00000217270.3_Missense_Mutation_p.N13H Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 13 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GGATTAAAGTTGGGTGTGAAA 0.512000 HNSCC(71;0.22) 16 67 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958141 143958141 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:143958141C>T ENST00000292427.4 - 4 788 c.756G>A c.(754-756)gtG>gtA p.V252V CYP11B1_ENST00000517471.1_Silent_p.V252V|CYP11B1_ENST00000377675.3_Silent_p.V323V NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 252 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) GCTCCTTCCACACCTTGGGGC 0.602000 Familial Hyperaldosteronism type I 4 38 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653807 89653807 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:89653807G>T ENST00000371953.3 + 2 1462 c.105G>T c.(103-105)atG>atT p.M35I NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 35 Phosphatase tensin-type. M -> R (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.A34_G36del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTATTGCTATGGGATTTCCTG 0.284000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 18 51 2.48551e-13 3.7062e-13 1 1 0 TRPV6 55503 broad.mit.edu 37 7 142573593 142573593 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:142573593G>C ENST00000359396.3 - 7 1072 c.827C>G c.(826-828)aCt>aGt p.T276S RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 276 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GTCATAGAGAGTCGAGGTCAG 0.527000 22 101 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294707 62294707 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:62294707G>T ENST00000378024.4 - 5 7456 c.7182C>A c.(7180-7182)caC>caA p.H2394Q AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2394 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGCTCTTCAAGTGTAGATCGA 0.483000 54 72 1.86277e-20 3.12251e-20 1 1 0 ARHGEF40 55701 broad.mit.edu 37 14 21542500 21542500 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:21542500A>T ENST00000298694.4 + 3 738 c.611A>T c.(610-612)gAa>gTa p.E204V ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E204V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 204 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CTGCCCCCAGAACTGCCCTCT 0.617000 11 36 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679280 176679280 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:176679280G>T ENST00000367662.3 + 11 4783 c.3619G>T c.(3619-3621)Gtt>Ttt p.V1207F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1207 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAAGTGTCCTGTTTCCTTGGT 0.463000 42 81 1.8453e-21 3.11394e-21 1 1 0 GIMAP6 474344 broad.mit.edu 37 7 150324823 150324823 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:150324823C>A ENST00000328902.5 - 3 1079 c.863G>T c.(862-864)gGg>gTg p.G288V GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCAGCCTTCCCCAGCAGGCA 0.587000 17 77 1.99824e-07 2.56045e-07 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41561050 41561050 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr21:41561050C>A ENST00000400454.1 - 12 2949 c.2472G>T c.(2470-2472)gaG>gaT p.E824D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 824 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGATTCGGTCCTCCTTCTCCC 0.517000 38 93 1.67305e-13 2.50957e-13 1 1 0 CHRNG 1146 broad.mit.edu 37 2 233406100 233406100 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:233406100G>A ENST00000389494.3 + 5 388 c.367G>A c.(367-369)Gag>Aag p.E123K CHRNG_ENST00000389492.3_Intron NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 123 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity p.E123K(1) breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CGGTGTCTTCGAGGTGGCCCT 0.637000 13 123 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40690377 40690377 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:40690377G>C ENST00000225927.2 + 3 653 c.552G>C c.(550-552)ctG>ctC p.L184L RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 184 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTTGGGCCTGACCCAGGCAG 0.527000 16 196 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282496 71282496 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:71282496C>T ENST00000335793.3 - 2 538 c.144G>A c.(142-144)ggG>ggA p.G48G CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.G48G Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 48 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) AGGAGGTGTCCCCAAAGGCGT 0.647000 7 58 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238727007 238727007 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238727007G>A ENST00000316997.4 + 3 1580 c.1448G>A c.(1447-1449)aGg>aAg p.R483K RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.R483K NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 482 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ACAACCAGCAGGGCAACAAGT 0.388000 5 54 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133906086 133906086 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:133906086C>G ENST00000220616.4 + 11 2953 c.2913C>G c.(2911-2913)ggC>ggG p.G971G TG_ENST00000377869.1_Silent_p.G971G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 971 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGACCTCGGCCTTCCTCCGC 0.592000 30 75 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105641938 105641938 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:105641938A>T ENST00000542731.1 + 7 852 c.744A>T c.(742-744)gaA>gaT p.E248D CDHR3_ENST00000478080.1_Missense_Mutation_p.E160D|CDHR3_ENST00000317716.9_Missense_Mutation_p.E248D|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.N149I|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 248 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 TCCTGGAGGAACTGAGTCCAG 0.517000 37 103 0 0 1 0 0 TRAV7 28686 broad.mit.edu 37 14 22251630 22251630 + RNA SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:22251630C>G ENST00000390429.3 + 0 247 GAAAGGAAGACTAAATGCTAC 0.428000 11 49 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52905960 52905960 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:52905960T>A ENST00000261844.7 - 3 263 c.111A>T c.(109-111)gtA>gtT p.V37V FAM214A_ENST00000546305.2_Silent_p.V44V NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 37 TTCGACCTTTTACAGAACATT 0.428000 4 31 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695399 109695399 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:109695399A>G ENST00000465301.2 + 3 1800 c.1554A>G c.(1552-1554)acA>acG p.T518T RGAG1_ENST00000540313.1_Silent_p.T518T NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 518 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TTACGGCAACAGCCTCTGAAA 0.512000 42 91 0 0 1 0 0 FAM71C 196472 broad.mit.edu 37 12 100042361 100042361 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:100042361C>G ENST00000324341.1 + 1 831 c.409C>G c.(409-411)Cag>Gag p.Q137E ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 137 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CGTAAAAAAACAGCTCCACCT 0.468000 25 68 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887787 25887787 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:25887787G>C ENST00000376351.3 + 11 3591 c.3232G>C c.(3232-3234)Ggc>Cgc p.G1078R GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1078 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAGAGCCAAGGCCAGTCCAT 0.493000 24 109 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086904 9086904 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9086904C>T ENST00000397910.4 - 1 5114 c.4911G>A c.(4909-4911)ggG>ggA p.G1637G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1637 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TACTACTGCTCCCTGTTGTTG 0.498000 46 88 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123785874 123785874 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:123785874G>T ENST00000422452.2 - 8 1532 c.1469C>A c.(1468-1470)tCg>tAg p.S490* TENM1_ENST00000371130.3_Nonsense_Mutation_p.S490* NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTCCTGAAGCGAAGTTAAGAT 0.428000 27 45 1.08971e-26 1.89821e-26 1 1 0 EPC1 80314 broad.mit.edu 37 10 32594782 32594782 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:32594782T>A ENST00000319778.6 - 2 533 c.231A>T c.(229-231)ccA>ccT p.P77P EPC1_ENST00000375110.2_Silent_p.P27P|EPC1_ENST00000263062.8_Silent_p.P77P NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 77 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TTTCTGCCTCTGGGACCGGTA 0.403000 17 43 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3779573 3779573 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:3779573G>A ENST00000310132.6 - 10 1283 c.885C>T c.(883-885)atC>atT p.I295I MATK_ENST00000395040.2_Silent_p.I254I|MATK_ENST00000585778.1_Silent_p.I295I|MATK_ENST00000395045.2_Silent_p.I296I NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 295 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTGCAGGATCACGCCCA 0.711000 7 11 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44336399 44336399 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:44336399C>A ENST00000315087.7 - 1 733 c.73G>T c.(73-75)Gcc>Tcc p.A25S ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A25S|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A25S NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 25 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 AAGGCAAAGGCGCAGATGAAG 0.612000 6 56 0.217242 0.218108 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147128840 147128840 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:147128840C>T ENST00000282928.4 + 1 1670 c.941C>T c.(940-942)gCg>gTg p.A314V NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 314 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A314G(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 AAGGTCTTCGCGCGCTCCGAG 0.562000 31 44 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107445 121107445 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:121107445G>T ENST00000295228.3 + 2 1265 c.1219G>T c.(1219-1221)Gcc>Tcc p.A407S NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 407 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GTGCGGCTGCGCCTGACAGTG 0.637000 10 25 1.76689e-08 2.35171e-08 1 1 0 KIAA0196 9897 broad.mit.edu 37 8 126071510 126071510 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:126071510C>A ENST00000318410.7 - 14 2067 c.1718G>T c.(1717-1719)aGg>aTg p.R573M KIAA0196_ENST00000517845.1_Missense_Mutation_p.R425M NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 573 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TGGATTTACCCTTATGCTTTC 0.408000 12 71 1.5842e-08 2.11974e-08 1 1 0 LAMC1 3915 broad.mit.edu 37 1 183093904 183093904 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:183093904G>C ENST00000258341.4 + 14 2797 c.2540G>C c.(2539-2541)gGa>gCa p.G847A NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 847 Laminin EGF-like 8. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCTTGACGGGAGAATGCCTG 0.517000 15 47 0 0 1 0 0 TMEM62 80021 broad.mit.edu 37 15 43446871 43446871 + Splice_Site SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:43446871G>A ENST00000260403.2 + 9 1303 c.1022_splice c.e9-1 p.V342_splice NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 342 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TCATTTTAGAGTCTTGGCCTT 0.378000 6 34 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956473 143956473 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:143956473C>G ENST00000292427.4 - 8 1330 c.1298G>C c.(1297-1299)gGc>gCc p.G433A CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504A NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 433 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) CCTGCCGGAGCCCCTGATGTC 0.632000 Familial Hyperaldosteronism type I 27 90 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139379 3139379 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3139379C>A ENST00000252463.2 - 5 1978 c.1891G>T c.(1891-1893)Ggc>Tgc p.G631C ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G549C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.G292C NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 631 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GGCCGCTCGCCCGTGTGGCTG 0.706000 8 38 5.18039e-06 6.21647e-06 1 1 0 ZNF263 10127 broad.mit.edu 37 16 3339416 3339416 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3339416G>A ENST00000574253.1 + 2 720 c.411G>A c.(409-411)tgG>tgA p.W137* ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000219069.5_Missense_Mutation_p.E304K O14978 ZN263_HUMAN zinc finger protein 263 137 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TGAGAACCTGGAAGGTGTTCC 0.532000 30 150 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76657190 76657190 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:76657190T>C ENST00000369950.3 - 14 2074 c.1885A>G c.(1885-1887)Aga>Gga p.R629G IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 629 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTCCCGTTTCTGAAGTTAAGT 0.403000 15 40 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167617539 167617539 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:167617539C>A ENST00000519204.1 + 13 2522 c.2404C>A c.(2404-2406)Cct>Act p.P802T TENM2_ENST00000545108.1_Missense_Mutation_p.P923T|TENM2_ENST00000403607.2_Missense_Mutation_p.P747T|TENM2_ENST00000518659.1_Missense_Mutation_p.P923T|TENM2_ENST00000520394.1_Missense_Mutation_p.P691T teneurin transmembrane protein 2 TGGAGAGAACCCTTTCAACAG 0.547000 7 26 0.000157383 0.000176531 1 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879681 3879681 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:3879681G>T ENST00000315677.3 - 4 983 c.388C>A c.(388-390)Cac>Aac p.H130N DLGAP1_ENST00000515196.2_Missense_Mutation_p.H130N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H130N NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 130 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TCGCTGCGGTGCTCCACGGCC 0.677000 31 90 3.99451e-17 6.39798e-17 1 1 0 HTR3B 9177 broad.mit.edu 37 11 113815415 113815415 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:113815415G>C ENST00000260191.2 + 8 1285 c.1028G>C c.(1027-1029)cGa>cCa p.R343P HTR3B_ENST00000537778.1_Missense_Mutation_p.R332P NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 343 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTGTGCCTTCGAGGGGACACC 0.552000 35 92 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28884908 28884908 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:28884908C>G ENST00000375664.3 + 7 1331 c.722C>G c.(721-723)tCt>tGt p.S241C WAC_ENST00000428935.1_Missense_Mutation_p.S241C|WAC_ENST00000347934.4_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.S286C|WAC_ENST00000375646.1_Intron Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 286 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 AATGGAGCATCTACTTTATCA 0.423000 29 85 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150730964 150730964 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:150730964T>C ENST00000358849.4 + 2 461 c.368T>C c.(367-369)tTt>tCt p.F123S ABCB8_ENST00000477719.1_Missense_Mutation_p.F123S|ABCB8_ENST00000477092.1_Missense_Mutation_p.F123S|ABCB8_ENST00000297504.6_Missense_Mutation_p.F140S|ABCB8_ENST00000356058.4_Missense_Mutation_p.F160S|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Missense_Mutation_p.F123S|ABCB8_ENST00000493338.1_3'UTR NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 140 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTGGCAGTTTCTGCACCCC 0.627000 10 50 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70123383 70123383 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:70123383T>C ENST00000388768.2 - 15 1945 c.1619A>G c.(1618-1620)gAg>gGg p.E540G RUFY2_ENST00000265865.3_Missense_Mutation_p.E95G|RUFY2_ENST00000602465.1_Missense_Mutation_p.E505G NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 554 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AAGAGCTTGCTCTTGTTCATG 0.328000 5 14 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520738 52520738 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:52520738C>A ENST00000216286.5 - 4 1068 c.1069_splice c.e4+1 p.E357_splice NID2_ENST00000541773.1_Splice_Site_p.E304_splice NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 357 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GAGATCCTACCCTCTAAAGGC 0.488000 13 84 1 1 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526271 176526271 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:176526271G>T ENST00000367662.3 + 2 1977 c.813G>T c.(811-813)cgG>cgT p.R271R PAPPA2_ENST00000367661.3_Silent_p.R271R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 271 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCGGGAGCGGCTGCTGCTGC 0.567000 16 44 4.7546e-09 6.4302e-09 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141788 29141788 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:29141788G>C ENST00000377167.2 + 1 478 c.376G>C c.(376-378)Gct>Cct p.A126P NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCGTTATGTAGCTGTGTGTAG 0.453000 71 270 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200438 92200438 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92200438G>T ENST00000212355.4 - 5 928 c.463C>A c.(463-465)Cat>Aat p.H155N TGFBR3_ENST00000525962.1_Missense_Mutation_p.H155N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H155N|TGFBR3_ENST00000468996.2_5'UTR NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 155 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCATTTCCATGGGGGAAGTTC 0.418000 51 202 9.22156e-22 1.55962e-21 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134073223 134073223 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:134073223G>T ENST00000264360.4 + 1 2754 c.1928G>T c.(1927-1929)cGa>cTa p.R643L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 643 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACAGCACGCCGAGTCCCGGCC 0.667000 16 42 1.5739e-10 2.2199e-10 1 1 0 CADM3 57863 broad.mit.edu 37 1 159163811 159163811 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:159163811T>A ENST00000368125.4 + 5 829 c.672T>A c.(670-672)tcT>tcA p.S224S CADM3_ENST00000368124.4_Silent_p.S258S NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 224 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GATCCACCTCTCAACGCATTG 0.507000 6 81 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52054021 52054021 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:52054021C>A ENST00000340057.1 + 3 444 c.399C>A c.(397-399)ttC>ttA p.F133L NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 133 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CCAACTCCTTCCGGCTGGAGA 0.597000 12 66 0.00010058 0.000114001 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31815707 31815707 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:31815707A>T ENST00000446923.2 + 9 3233 c.2842A>T c.(2842-2844)Aaa>Taa p.K948* ZEB1_ENST00000560721.2_Nonsense_Mutation_p.K944*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.K964*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.K897*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.K965* NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 964 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TCAATGTGACAAATGTGGAAA 0.413000 12 54 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561848 142561848 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:142561848G>T ENST00000392957.2 + 7 1077 c.290G>T c.(289-291)cGg>cTg p.R97L EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R97L NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 97 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) TTTGTGGAGCGGCGCGGGGCC 0.657000 25 168 6.36457e-07 7.92688e-07 1 1 0 ZMAT4 79698 broad.mit.edu 37 8 40554910 40554910 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:40554910G>T ENST00000297737.6 - 4 349 c.203C>A c.(202-204)gCc>gAc p.A68D ZMAT4_ENST00000315769.7_Missense_Mutation_p.A68D NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 68 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CACCATGTCGGCATCACTTCC 0.478000 16 26 6.31663e-08 8.31946e-08 1 1 0 PTGFRN 5738 broad.mit.edu 37 1 117492063 117492063 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:117492063G>T ENST00000393203.2 + 4 1229 c.1082G>T c.(1081-1083)cGg>cTg p.R361L NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 361 Ig-like C2-type 3. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TTACTGGTTCGGGATGTTAGC 0.562000 29 91 1.39806e-14 2.15261e-14 1 1 0 NRP2 8828 broad.mit.edu 37 2 206617582 206617582 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:206617582G>A ENST00000360409.3 + 12 2718 c.1927G>A c.(1927-1929)Gga>Aga p.G643R NRP2_ENST00000357118.4_Missense_Mutation_p.G643R|NRP2_ENST00000540178.1_Missense_Mutation_p.G643R|NRP2_ENST00000540841.1_Missense_Mutation_p.G643R|NRP2_ENST00000357785.5_Missense_Mutation_p.G643R|NRP2_ENST00000272849.3_Missense_Mutation_p.G643R|NRP2_ENST00000412873.2_Missense_Mutation_p.G643R NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 643 MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GCTCCCTTCGGGATTCAATTG 0.488000 11 36 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616355 92616355 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92616355T>A ENST00000298047.6 + 23 12750 c.12733T>A c.(12733-12735)Tcc>Acc p.S4245T FAT3_ENST00000409404.2_Missense_Mutation_p.S4245T|FAT3_ENST00000533797.1_Missense_Mutation_p.S580T|FAT3_ENST00000525166.1_Missense_Mutation_p.S4095T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4245 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) CCAGAGTGACTCCAGGAGCAA 0.677000 TCGA Ovarian(4;0.039) 42 179 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100348950 100348950 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:100348950C>A ENST00000437033.2 - 5 1047 c.544G>T c.(544-546)Gct>Tct p.A182S ADH7_ENST00000476959.1_Missense_Mutation_p.A202S|ADH7_ENST00000482593.1_Missense_Mutation_p.A125S|ADH7_ENST00000209665.4_Missense_Mutation_p.A194S P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 194 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TTAACAGCAGCGCCATATCCA 0.408000 6 45 1.06961e-07 1.39419e-07 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151155508 151155508 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:151155508G>A ENST00000282466.3 - 6 6840 c.6841C>T c.(6841-6843)Ctc>Ttc p.L2281F IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2281 Ig-like C2-type 9. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGGCTGTGAGGAAAATATTG 0.433000 54 64 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264493 61264493 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:61264493G>T ENST00000344731.5 + 8 1174 c.1072G>T c.(1072-1074)Gcc>Tcc p.A358S SERPINB13_ENST00000269489.5_Missense_Mutation_p.A306S NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 358 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.A358T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TGTCACATCCGCCCCAGGTCA 0.512000 10 70 1.58986e-06 1.93237e-06 1 1 0 GREM2 64388 broad.mit.edu 37 1 240656527 240656527 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:240656527G>T ENST00000318160.4 - 2 515 c.249C>A c.(247-249)agC>agA p.S83R NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 83 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) AGCCCTCCTCGCTCACCGTCT 0.647000 9 102 3.86212e-05 4.45765e-05 1 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238626448 238626448 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:238626448G>T ENST00000308482.9 + 4 314 c.245G>T c.(244-246)tGg>tTg p.W82L LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 51 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) ATCGAGCAGTGGATGGTAGGC 0.358000 25 130 3.80469e-20 6.34956e-20 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8340382 8340382 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:8340382G>T ENST00000381196.4 - 39 5757 c.5214C>A c.(5212-5214)acC>acA p.T1738T PTPRD_ENST00000397611.3_Silent_p.T1328T|PTPRD_ENST00000355233.5_Silent_p.T1332T|PTPRD_ENST00000358503.5_Silent_p.T1716T|PTPRD_ENST00000397606.3_Silent_p.T1331T|PTPRD_ENST00000397617.3_Silent_p.T1331T|PTPRD_ENST00000486161.1_Silent_p.T1331T|PTPRD_ENST00000540109.1_Silent_p.T1738T|PTPRD_ENST00000360074.4_Silent_p.T1725T|PTPRD_ENST00000537002.1_Silent_p.T1328T|PTPRD_ENST00000356435.5_Silent_p.T1738T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1738 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCACAACTATGGTGGAATTGT 0.498000 TSP Lung(15;0.13) 7 36 0.00198382 0.00210346 1 1 0 NDUFAF5 79133 broad.mit.edu 37 20 13782241 13782241 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:13782241G>T ENST00000378106.5 + 7 748 c.629G>T c.(628-630)gGa>gTa p.G210V NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.G182V NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 210 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity GAAAGGGAAGGAGGATTTTCT 0.448000 18 50 3.41278e-10 4.74276e-10 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34276467 34276467 + Splice_Site SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:34276467T>A ENST00000373381.4 - 10 1501 c.e10-2 CSMD2_ENST00000338325.1_Splice_Site NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACATGCGGGCTGCAGAGGAGA 0.532000 11 85 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281931 152281931 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152281931C>G ENST00000368799.1 - 3 5466 c.5431G>C c.(5431-5433)Gac>Cac p.D1811H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1811 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAATGGTGTCCTGACCCTCT 0.597000 Ichthyosis 38 708 0 0 1 0 0 SPRED1 161742 broad.mit.edu 37 15 38632064 38632064 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:38632064A>G ENST00000299084.4 + 5 1410 c.550A>G c.(550-552)Aga>Gga p.R184G NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 184 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TCTGAATGCCAGAAGAGTCTA 0.373000 Legius syndrome 14 34 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68200218 68200218 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:68200218T>C ENST00000262215.3 - 7 1388 c.999A>G c.(997-999)gtA>gtG p.V333V NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 333 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCATTTCTTCTACAATGTTCT 0.323000 30 111 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155250852 155250852 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:155250852G>T ENST00000357232.3 - 11 2375 c.2376C>A c.(2374-2376)atC>atA p.I792I DCHS2_ENST00000339452.1_Silent_p.I1247I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 792 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCACCCAATTGATTAACTCTC 0.552000 8 49 0.000442599 0.000482836 1 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24878202 24878202 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:24878202T>C ENST00000396432.2 - 25 4666 c.4180A>G c.(4180-4182)Aag>Gag p.K1394E ARHGAP21_ENST00000320481.6_3'UTR NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1393 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CAATTTACCTTAGATTTTGTT 0.318000 18 49 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103345895 103345895 + Missense_Mutation SNP C C A rs141683033 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:103345895C>A ENST00000370162.3 - 3 628 c.134G>T c.(133-135)cGg>cTg p.R45L POLL_ENST00000339310.3_Intron|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000299206.4_Missense_Mutation_p.R45L|POLL_ENST00000370169.1_Missense_Mutation_p.R45L|POLL_ENST00000370158.3_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 45 BRCT. DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AACATGGGCCCGAAGGGAGCT 0.537000 DNA polymerases (catalytic subunits) 7 43 0.000673444 0.00073045 1 1 0 DDX41 51428 broad.mit.edu 37 5 176943349 176943349 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:176943349C>T ENST00000507955.1 - 3 761 c.238G>A c.(238-240)Ggc>Agc p.G80S DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 80 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GACTGAGGGCCTAGCGGGATG 0.612000 45 67 0 0 1 0 0 TM6SF1 53346 broad.mit.edu 37 15 83790720 83790720 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:83790720T>A ENST00000322019.9 + 5 720 c.446T>A c.(445-447)aTg>aAg p.M149K TM6SF1_ENST00000379386.4_Missense_Mutation_p.M152K|TM6SF1_ENST00000565774.1_Missense_Mutation_p.M149K|TM6SF1_ENST00000379390.6_Missense_Mutation_p.M149K Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 149 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TCTATTATTATGAGTGTTGTT 0.318000 23 82 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509209 106509209 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:106509209C>G ENST00000359195.3 + 2 1513 c.1203C>G c.(1201-1203)ccC>ccG p.P401P PIK3CG_ENST00000496166.1_Silent_p.P401P|PIK3CG_ENST00000440650.2_Silent_p.P401P NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 401 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GAACCAGCCCCAAACCCTTCA 0.502000 8 75 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15349879 15349879 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:15349879C>A ENST00000333590.4 - 2 258 c.174G>T c.(172-174)caG>caT p.Q58H PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 58 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) CAATCAGGCACTGAGAGAGCT 0.428000 22 36 4.35082e-09 5.89465e-09 1 1 0 RYR2 6262 broad.mit.edu 37 1 237494244 237494244 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:237494244C>A ENST00000360064.6 + 4 228 c.228C>A c.(226-228)tgC>tgA p.C76* RYR2_ENST00000366574.2_Missense_Mutation_p.Q79K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q63K Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 0 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) CCGGGCGCTGCAGGAGATGCT 0.502000 19 65 0.000229342 0.000256483 1 1 0 C15orf59 388135 broad.mit.edu 37 15 74043389 74043389 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:74043389C>T ENST00000569673.1 - 2 1287 c.83G>A c.(82-84)cGc>cAc p.R28H C15orf59_ENST00000379822.4_Missense_Mutation_p.R28H Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 28 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CATCTTCATGCGCTGTCGAAT 0.642000 14 90 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498822 142498822 + RNA SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:142498822C>A ENST00000466254.1 + 0 98 TGTGCCTGGCCACAGGCTTCT 0.607000 7 90 0.0381472 0.0387625 1 1 0 NPHS1 4868 broad.mit.edu 37 19 36321981 36321981 + Missense_Mutation SNP G G A rs143145248 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:36321981G>A ENST00000378910.5 - 27 3454 c.3455C>T c.(3454-3456)aCg>aTg p.T1152M NPHS1_ENST00000353632.6_Missense_Mutation_p.T1112M NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1152 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCTCCTGCGTCGGGGGCAG 0.587000 47 87 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140317 3140317 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:3140317C>A ENST00000252463.2 - 5 1040 c.953G>T c.(952-954)gGg>gTg p.G318V ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G236V|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 318 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GAAGGAGCGCCCAGCCGGGTG 0.672000 7 61 8.12818e-05 9.24046e-05 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671294 49671294 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:49671294T>C ENST00000561648.1 - 4 1822 c.1769A>G c.(1768-1770)aAc>aGc p.N590S ZNF423_ENST00000567169.1_Missense_Mutation_p.N473S|ZNF423_ENST00000262383.2_Missense_Mutation_p.N590S|ZNF423_ENST00000563137.2_Missense_Mutation_p.N530S|ZNF423_ENST00000562520.1_Missense_Mutation_p.N530S|ZNF423_ENST00000535559.1_Missense_Mutation_p.N473S|ZNF423_ENST00000562871.1_Missense_Mutation_p.N530S NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 590 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) CAGTGGAATGTTCTTGTGGTT 0.572000 21 78 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401191 55401191 + Missense_Mutation SNP G G A rs149025092 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:55401191G>A ENST00000355524.3 + 5 836 c.826G>A c.(826-828)Gga>Aga p.G276R FCAR_ENST00000359272.4_Missense_Mutation_p.G264R|FCAR_ENST00000391724.3_Missense_Mutation_p.G242R|FCAR_ENST00000345937.4_Missense_Mutation_p.G180R|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.G168R|FCAR_ENST00000353758.4_Missense_Mutation_p.G167R|FCAR_ENST00000391725.3_Missense_Mutation_p.G254R|FCAR_ENST00000391723.3_3'UTR NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 276 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) GTGTCAGCCAGGATTGACCTT 0.537000 30 118 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313064 54313064 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:54313064A>G ENST00000324134.6 - 3 2017 c.1849T>C c.(1849-1851)Ttg>Ctg p.L617L NLRP12_ENST00000351894.4_Silent_p.L617L|NLRP12_ENST00000345770.5_Silent_p.L617L|NLRP12_ENST00000391773.1_Silent_p.L617L|NLRP12_ENST00000391772.1_Silent_p.L617L|NLRP12_ENST00000391775.3_Silent_p.L617L|NLRP12_ENST00000354278.3_Silent_p.L617L|NLRP12_ENST00000535162.1_Silent_p.L617L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 617 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) ATCTCGTACAAGCAGCTGAAG 0.567000 29 56 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87407258 87407258 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:87407258C>T ENST00000338056.3 + 9 1405 c.994C>T c.(994-996)Ctt>Ttt p.L332F RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L315F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L315F NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 332 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) AATTGTGGAGCTTCAAGATCA 0.353000 19 53 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43034773 43034773 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:43034773G>T ENST00000316099.3 + 2 280 c.191G>T c.(190-192)gGg>gTg p.G64V HNF4A_ENST00000415691.1_Missense_Mutation_p.G64V|HNF4A_ENST00000443598.2_Missense_Mutation_p.G64V|HNF4A_ENST00000457232.1_Missense_Mutation_p.G42V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 64 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCATCTGCGGGGACCGGGCC 0.642000 31 109 1.75199e-13 2.62277e-13 1 1 0 OR10J1 26476 broad.mit.edu 37 1 159409749 159409749 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:159409749C>A ENST00000423932.3 + 1 238 c.201C>A c.(199-201)caC>caA p.H67Q RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 67 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TTCATCTTCACACACCCATGT 0.453000 46 119 1.15183e-24 1.96565e-24 1 1 0 TAF1C 9013 broad.mit.edu 37 16 84212974 84212974 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:84212974C>A ENST00000567759.1 - 14 2365 c.2183G>T c.(2182-2184)cGa>cTa p.R728L TAF1C_ENST00000570117.1_Missense_Mutation_p.R396L|TAF1C_ENST00000378541.4_Missense_Mutation_p.R728L|TAF1C_ENST00000541676.1_Missense_Mutation_p.R635L|TAF1C_ENST00000341690.6_Missense_Mutation_p.R634L|TAF1C_ENST00000566732.1_Missense_Mutation_p.R702L NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 728 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GGCAGCCCCTCGGCCTGCCCA 0.706000 15 17 1.52009e-12 2.23578e-12 1 1 0 TAS2R14 50840 broad.mit.edu 37 12 11091224 11091224 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:11091224G>A ENST00000537503.1 - 1 638 c.583C>T c.(583-585)Ctg>Ttg p.L195L PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 195 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 AACATTGCCAGGGACAAAGTA 0.423000 24 43 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236187502 236187502 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:236187502C>A ENST00000264187.6 - 9 2078 c.1996G>T c.(1996-1998)Gat>Tat p.D666Y NID1_ENST00000366595.3_Missense_Mutation_p.D666Y NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 666 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGAAGAGCATCAGGGGAGCCT 0.547000 8 52 0.000274275 0.000301384 1 1 0 CACNG3 10368 broad.mit.edu 37 16 24372682 24372682 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:24372682A>T ENST00000005284.3 + 4 1648 c.446A>T c.(445-447)aAc>aTc p.N149I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 149 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GGGTTAAGCAACATCATTGGC 0.413000 32 124 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356834 42356834 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:42356834G>T ENST00000554171.1 + 5 3438 c.1006G>T c.(1006-1008)Gtg>Ttg p.V336L LRFN5_ENST00000554120.1_Missense_Mutation_p.V336L|LRFN5_ENST00000298119.4_Missense_Mutation_p.V336L Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 336 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAGATCTCTGGTGTATGATAA 0.453000 HNSCC(30;0.082) 27 95 7.53681e-25 1.2891e-24 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50094639 50094639 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:50094639G>T ENST00000376042.1 + 13 4423 c.4125G>T c.(4123-4125)ttG>ttT p.L1375F CCNB3_ENST00000276014.7_Missense_Mutation_p.L1375F|CCNB3_ENST00000348603.2_Missense_Mutation_p.L271F|CCNB3_ENST00000376038.1_Missense_Mutation_p.L271F Q8WWL7 CCNB3_HUMAN cyclin B3 1375 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TCCCTGCCTTGGATATGTTGA 0.483000 10 21 0.00829132 0.00863393 1 1 0 PEX19 5824 broad.mit.edu 37 1 160249886 160249886 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:160249886C>A ENST00000368072.5 - 6 766 c.745G>T c.(745-747)Gag>Tag p.E249* PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E102*|PEX19_ENST00000440949.3_Nonsense_Mutation_p.E159* NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCACCATCTCAAAACGAGCC 0.493000 105 227 7.73176e-47 1.40173e-46 1 1 0 KIAA1324 57535 broad.mit.edu 37 1 109743477 109743477 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:109743477C>A ENST00000369939.3 + 21 3111 c.2928C>A c.(2926-2928)acC>acA p.T976T KIAA1324_ENST00000529753.1_Silent_p.T889T|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 976 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TCATCTTTACCAGCAAGAAGT 0.542000 OREG0013630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 0.014758 0.015159 1 1 0 CPZ 8532 broad.mit.edu 37 4 8605802 8605802 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:8605802G>T ENST00000382480.2 + 4 985 c.185G>T c.(184-186)cGg>cTg p.R62L CPZ_ENST00000360986.4_Missense_Mutation_p.R199L|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R188L NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 199 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTGCTGAGGCGGACGGCCTCC 0.701000 3 10 0.004672 0.00488524 1 1 0 C3orf20 84077 broad.mit.edu 37 3 14769948 14769948 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:14769948C>T ENST00000253697.3 + 12 2145 c.1693C>T c.(1693-1695)Ctg>Ttg p.L565L C3orf20_ENST00000435614.1_Silent_p.L443L|C3orf20_ENST00000412910.1_Silent_p.L443L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 565 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GTTAACAGGTCTGTTTACCAT 0.493000 13 48 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242035504 242035504 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:242035504A>T ENST00000366548.3 + 12 2031 c.1438A>T c.(1438-1440)Aga>Tga p.R480* EXO1_ENST00000348581.5_Nonsense_Mutation_p.R480*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.R480* NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 480 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACCTAGGACGAGAAATAAATT 0.398000 Editing and processing nucleases 28 119 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132938854 132938854 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:132938854A>T ENST00000275191.2 - 1 463 c.356T>A c.(355-357)cTa>cAa p.L119Q TAAR2_ENST00000367931.1_Missense_Mutation_p.L164Q|TAAR2_ENST00000537809.1_Missense_Mutation_p.L119Q NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 164 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) ACATAGAAGTAGCAATCTTTT 0.408000 7 81 0 0 1 0 0 BEX2 84707 broad.mit.edu 37 X 102564882 102564882 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:102564882G>T ENST00000536889.1 - 3 476 c.119C>A c.(118-120)gCg>gAg p.A40E BEX2_ENST00000372677.3_Missense_Mutation_p.A8E|BEX2_ENST00000372674.1_Missense_Mutation_p.A8E NM_001168399.1|NM_001168400.1 NP_001161871.1|NP_001161872.1 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 8 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus endometrium(1)|lung(1)|ovary(1) 3 ATTGTTTAACGCTCGTTCCTC 0.463000 11 17 0.0809354 0.0820203 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768313 77768313 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77768313G>A ENST00000521891.2 + 10 9604 c.9156G>A c.(9154-9156)ccG>ccA p.P3052P ZFHX4_ENST00000518282.1_Silent_p.P3026P|ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000455469.2_Silent_p.P3007P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3007 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3036P(2) 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) ACTTGGCTCCGACCACGGTTC 0.507000 HNSCC(33;0.089) 10 109 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104071263 104071263 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:104071263C>A ENST00000388887.2 + 25 2883 c.2679C>A c.(2677-2679)caC>caA p.H893Q NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 893 EGF-like 8. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CGGGCACCCACACCTGCGTGT 0.542000 45 70 9.84934e-19 1.60131e-18 1 1 0 CRTAM 56253 broad.mit.edu 37 11 122738173 122738173 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:122738173A>G ENST00000227348.4 + 8 921 c.874A>G c.(874-876)Acg>Gcg p.T292A CRTAM_ENST00000533709.1_Missense_Mutation_p.T93A NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 292 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CCTGCTGCTCACGCTGGTGTC 0.413000 6 43 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113650925 113650925 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:113650925C>A ENST00000297405.5 - 21 3770 c.3526_splice c.e21+1 p.E1176_splice CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice|CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1176 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTTTCTCACCAGAGAATGTT 0.308000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 32 0.000274275 0.000301384 1 1 0 C8orf74 203076 broad.mit.edu 37 8 10557970 10557970 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:10557970G>T ENST00000304519.5 + 4 903 c.874G>T c.(874-876)Gca>Tca p.A292S RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 292 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) GAAAGCGAAGGCAAGGAAGTA 0.622000 6 7 5.9392e-07 7.42155e-07 1 1 0 IFNB1 3456 broad.mit.edu 37 9 21077402 21077402 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:21077402G>T ENST00000380232.2 - 1 541 c.467C>A c.(466-468)gCc>gAc p.A156D NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 156 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GTACTCCTTGGCCTTCAGGTA 0.433000 40 134 2.59497e-14 3.96323e-14 1 1 0 FZD7 8324 broad.mit.edu 37 2 202900716 202900716 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:202900716G>T ENST00000286201.1 + 1 1407 c.1346G>T c.(1345-1347)cGt>cTt p.R449L NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 449 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 TCCCTCTTCCGTATCCGCACC 0.612000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 95 0.000219431 0.000245763 1 1 0 DEFA4 1669 broad.mit.edu 37 8 6793589 6793589 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:6793589G>C ENST00000297435.2 - 3 371 c.247C>G c.(247-249)Ctc>Gtc p.L83V NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 83 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CCACCAATGAGGCAGTTCCCA 0.512000 10 50 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096328 51096328 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:51096328T>A ENST00000395542.2 - 12 2895 c.2711A>T c.(2710-2712)cAc>cTc p.H904L COBL_ENST00000265136.7_Missense_Mutation_p.H822L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 822 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GCCCTCATGGTGGGCAGACTT 0.642000 17 42 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26885753 26885753 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:26885753C>T ENST00000231021.4 - 11 2024 c.1852G>A c.(1852-1854)Gcg>Acg p.A618T NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 618 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGTAGAATCGCAACGAGAGCT 0.512000 5 41 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105365611 105365611 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:105365611C>A ENST00000369774.4 - 14 1648 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E430*|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E293*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E325*|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 458 SH3 3. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GACTGGAATTCGGCAATGGTG 0.542000 OREG0020500 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 44 1.01871e-10 1.44222e-10 1 1 0 MATN4 8785 broad.mit.edu 37 20 43926606 43926606 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:43926606C>G ENST00000537548.1 - 9 1775 c.1531G>C c.(1531-1533)Ggc>Cgc p.G511R MATN4_ENST00000372756.1_Missense_Mutation_p.G511R|MATN4_ENST00000342716.4_Missense_Mutation_p.G511R|MATN4_ENST00000360607.5_Missense_Mutation_p.G470R|MATN4_ENST00000372754.1_Missense_Mutation_p.G552R|MATN4_ENST00000372751.4_Missense_Mutation_p.G362R|MATN4_ENST00000353917.5_Missense_Mutation_p.G429R|MATN4_ENST00000372753.1_Missense_Mutation_p.G362R O95460 MATN4_HUMAN matrilin 4 552 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GTCATGGTGCCGAAGTCCGGG 0.652000 14 37 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36026674 36026674 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:36026674G>T ENST00000373243.2 + 3 1305 c.922G>T c.(922-924)Gcc>Tcc p.A308S NCDN_ENST00000373253.3_Missense_Mutation_p.A291S|NCDN_ENST00000356090.4_Missense_Mutation_p.A308S NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 308 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAAGTTCCTGGCCCTGCTGGT 0.672000 5 22 0.014758 0.015159 1 1 0 MRPS5 64969 broad.mit.edu 37 2 95753185 95753185 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:95753185C>A ENST00000272418.2 - 12 1418 c.1210G>T c.(1210-1212)Gtc>Ttc p.V404F NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 404 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TCCAGTTTGACGTCTGGAACC 0.567000 13 52 1.49906e-05 1.77076e-05 1 1 0 RYR2 6262 broad.mit.edu 37 1 237880535 237880535 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:237880535G>A ENST00000366574.2 + 72 10678 c.10361G>A c.(10360-10362)cGc>cAc p.R3454H RYR2_ENST00000360064.6_Missense_Mutation_p.R3452H|RYR2_ENST00000542537.1_Missense_Mutation_p.R3438H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3454 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) AAAATGAAGCGCAAAGGAGAT 0.488000 12 20 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67355077 67355077 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:67355077G>A ENST00000396623.3 + 3 173 c.142G>A c.(142-144)Gag>Aag p.E48K ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E48K NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 48 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTATGCCTTTGAGGTATATTC 0.274000 18 65 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322549 55322549 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:55322549G>T ENST00000314644.2 + 1 767 c.767G>T c.(766-768)aGt>aTt p.S256I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GTCATCAACAGTGGGTTTATC 0.473000 HNSCC(20;0.049) 8 60 1.06961e-07 1.39419e-07 1 1 0 PRLR 5618 broad.mit.edu 37 5 35066174 35066174 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:35066174A>C ENST00000382002.5 - 10 1312 c.886T>G c.(886-888)Ttg>Gtg p.L296V PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.L296V|PRLR_ENST00000342362.5_Missense_Mutation_p.L195V|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.L296V|PRLR_ENST00000511486.1_Missense_Mutation_p.L195V NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 296 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGCATCCCAAGGCACTCAGT 0.438000 6 82 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082377 152082377 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152082377G>C ENST00000368804.1 - 2 3315 c.3316C>G c.(3316-3318)Cgg>Ggg p.R1106G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1106 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTCTCCCGCTCCTGGCGC 0.617000 42 193 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648337 57648337 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:57648337G>T ENST00000269834.1 - 4 530 c.145C>A c.(145-147)Caa>Aaa p.Q49K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTCCCCTTGTCCTGTGATG 0.498000 27 67 2.4375e-19 3.98863e-19 1 1 0 VAC14 55697 broad.mit.edu 37 16 70778352 70778352 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:70778352C>A ENST00000261776.5 - 13 1762 c.1502G>T c.(1501-1503)gGc>gTc p.G501V NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 501 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GCCGGCTCTGCCAGGGGTGGG 0.647000 7 47 1.08611e-07 1.41082e-07 1 1 0 PGLYRP3 114771 broad.mit.edu 37 1 153279556 153279556 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:153279556G>T ENST00000290722.1 - 2 295 c.243C>A c.(241-243)tgC>tgA p.C81* NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 81 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACGCCACGTCGCACCAGCCTA 0.582000 4 28 0.217242 0.218108 1 1 0 ANO2 57101 broad.mit.edu 37 12 5853336 5853336 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:5853336G>T ENST00000356134.5 - 13 1400 c.1329C>A c.(1327-1329)ttC>ttA p.F443L ANO2_ENST00000546188.1_Missense_Mutation_p.F443L|ANO2_ENST00000327087.8_Missense_Mutation_p.F442L NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 447 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 ACAGAGCCATGAAGATAGAGA 0.542000 15 41 3.41278e-10 4.74276e-10 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154313336 154313336 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:154313336G>T ENST00000368489.3 + 13 1140 c.1140G>T c.(1138-1140)gaG>gaT p.E380D ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E366D NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 366 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCAGTGTGGAGGTCATCCGTC 0.607000 39 91 9.14704e-12 1.32474e-11 1 1 0 PNPLA1 285848 broad.mit.edu 37 6 36262158 36262158 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:36262158G>T ENST00000394571.2 + 4 696 c.696G>T c.(694-696)ttG>ttT p.L232F PNPLA1_ENST00000388715.3_Missense_Mutation_p.L137F|PNPLA1_ENST00000312917.5_Missense_Mutation_p.L146F NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 232 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CCCACGCATTGTTCCCCCCGG 0.622000 24 57 5.45727e-16 8.52416e-16 1 1 0 DACT1 51339 broad.mit.edu 37 14 59112433 59112433 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:59112433T>A ENST00000395153.3 + 4 1128 c.981T>A c.(979-981)gcT>gcA p.A327A DACT1_ENST00000395151.3_Silent_p.A83A|DACT1_ENST00000335867.4_Silent_p.A364A|DACT1_ENST00000556859.1_Silent_p.A83A|DACT1_ENST00000541264.2_Silent_p.A83A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 364 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCGTGAACGCTGACCCCACGA 0.517000 19 43 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38950710 38950710 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:38950710C>G ENST00000357387.3 - 31 3270 c.3240G>C c.(3238-3240)aaG>aaC p.K1080N RICTOR_ENST00000296782.5_Missense_Mutation_p.K1080N NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1080 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AATTTTTATCCTTTATGGGTC 0.383000 22 559 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72341016 72341016 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:72341016G>T ENST00000389916.4 + 7 837 c.699G>T c.(697-699)cgG>cgT p.R233R NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 233 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 AGCGCAGCCGGGTCAAGAACA 0.692000 12 34 2.27111e-07 2.90027e-07 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56606832 56606832 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:56606832G>T ENST00000336078.4 + 6 3460 c.2684G>T c.(2683-2685)gGc>gTc p.G895V ZNF532_ENST00000591083.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G895V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G895V NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 895 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CAGCATCCTGGCATCAAGATA 0.428000 19 77 1.96292e-10 2.75319e-10 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212426632 212426632 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:212426632G>T ENST00000342788.4 - 20 2793 c.2483C>A c.(2482-2484)gCt>gAt p.A828D ERBB4_ENST00000402597.1_Missense_Mutation_p.A818D|ERBB4_ENST00000436443.1_Missense_Mutation_p.A828D NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 828 Protein kinase. 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) ACTTACCTTAGCTATCTGGAC 0.393000 TSP Lung(8;0.080) 13 87 0.00136819 0.00145889 1 1 0 CD101 9398 broad.mit.edu 37 1 117568211 117568211 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:117568211G>A ENST00000256652.4 + 8 2567 c.2509G>A c.(2509-2511)Gag>Aag p.E837K CD101_ENST00000369470.1_Missense_Mutation_p.E837K|RP11-27K13.3_ENST00000445523.1_RNA NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 837 Ig-like C2-type 7. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGCAGCCTGGAGAGTGTAGG 0.478000 9 80 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037302 75037302 + Silent SNP C C T rs4366277 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:75037302C>T ENST00000326665.5 - 14 4310 c.4092G>A c.(4090-4092)gaG>gaA p.E1364E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1364 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTCGGCTGTCTCCGAACCTG 0.517000 46 120 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589451 136589451 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:136589451G>A ENST00000531224.1 - 10 2498 c.2246C>T c.(2245-2247)tCt>tTt p.S749F BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S747F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S747F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S749F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S576F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S747F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 749 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGAAGATCGAGAATGATCTTG 0.343000 6 64 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34130564 34130564 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:34130564G>A ENST00000389232.4 + 89 12453 c.12383G>A c.(12382-12384)gGt>gAt p.G4128D RYR3_ENST00000415757.3_Missense_Mutation_p.G4123D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4128 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) GAAATTGCGGGTGAAGAGGAA 0.493000 40 82 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247463969 247463969 + Missense_Mutation SNP C C A rs144745098 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:247463969C>A ENST00000294753.4 - 9 2080 c.1616G>T c.(1615-1617)cGg>cTg p.R539L ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R575L NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 539 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GCTGCGGTGCCGAGCCAGGTG 0.612000 13 119 4.36969e-10 6.03928e-10 1 1 0 ATP5L 10632 broad.mit.edu 37 11 118279722 118279722 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:118279722T>A ENST00000300688.3 + 3 733 c.221T>A c.(220-222)gTg>gAg p.V74E ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Intron NM_006476.4 NP_006467.4 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G 74 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(3) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) CAGGAAGCTGTGCTGAATGGT 0.333000 5 69 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375441 117375441 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:117375441C>T ENST00000160373.3 - 15 3661 c.3570G>A c.(3568-3570)aaG>aaA p.K1190K NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1190 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGATTTTCTTCTTACTGGGAG 0.338000 8 161 0 0 1 0 0 CRH 1392 broad.mit.edu 37 8 67089250 67089250 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:67089250C>G ENST00000276571.3 - 2 909 c.463G>C c.(463-465)Gag>Cag p.E155Q NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 155 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) GGAGGCTCCTCGGACCGCCTT 0.672000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 27 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58560058 58560058 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:58560058C>T ENST00000348616.4 + 7 1011 c.711C>T c.(709-711)acC>acT p.T237T CDH26_ENST00000244047.5_Silent_p.T237T NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 237 Cadherin 2. 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) CCACATAGACCGCTCCTCAGT 0.433000 8 40 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402858 124402858 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:124402858G>A ENST00000368909.3 + 53 7292 c.7186G>A c.(7186-7188)Gtc>Atc p.V2396I DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000338354.3_Missense_Mutation_p.V2396I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2396 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTGGACGTCGTCCTGGGTCC 0.647000 18 32 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541528 55541528 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:55541528C>A ENST00000361760.1 + 1 615 c.615C>A c.(613-615)gcC>gcA p.A205A NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTATTATTGCCATATTCAATG 0.383000 25 154 0.000586117 0.000638479 1 1 0 PLCB1 23236 broad.mit.edu 37 20 8609055 8609055 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:8609055G>T ENST00000378641.3 + 4 836 c.361G>T c.(361-363)Gct>Tct p.A121S PLCB1_ENST00000378637.2_Missense_Mutation_p.A121S|PLCB1_ENST00000338037.6_Missense_Mutation_p.A121S NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 121 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GAATCTCGTGGCTTTCCAAGA 0.473000 24 90 7.38237e-10 1.0129e-09 1 1 0 OR9G1 390174 broad.mit.edu 37 11 56468325 56468325 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:56468325C>A ENST00000312153.1 + 1 462 c.462C>A c.(460-462)aaC>aaA p.N154K 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 GCTTTATTAACTCTTCAATCA 0.458000 12 199 0.000978159 0.00105041 1 1 0 LIFR 3977 broad.mit.edu 37 5 38481840 38481840 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:38481840T>A ENST00000263409.4 - 20 3313 c.3151A>T c.(3151-3153)Aac>Tac p.N1051Y LIFR_ENST00000453190.2_Missense_Mutation_p.N1051Y NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1051 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATCTCACTGTTGCTGTCTATG 0.418000 T PLAG1 salivary adenoma 139 126 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62812728 62812728 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:62812728C>A ENST00000512091.1 + 15 3059 c.2312C>A c.(2311-2313)aCa>aAa p.T771K LPHN3_ENST00000508693.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T771K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T771K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507164.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T771K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T771K|LPHN3_ENST00000504896.1_Missense_Mutation_p.T771K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514591.1_Missense_Mutation_p.T771K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T839K Q9HAR2 LPHN3_HUMAN latrophilin 3 758 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GCTTTGTCCACAAATCATTCT 0.403000 20 200 2.39187e-15 3.71305e-15 1 1 0 RASSF2 9770 broad.mit.edu 37 20 4770300 4770300 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:4770300C>A ENST00000379400.3 - 8 776 c.581G>T c.(580-582)cGc>cTc p.R194L RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 194 Ras-associating. cell cycle|signal transduction nucleus protein binding p.R194L(2)|p.R194H(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GCTGTTGATGCGGACGTTGGT 0.547000 11 58 3.07112e-06 3.69708e-06 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31283197 31283197 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:31283197C>G ENST00000544665.3 + 7 659 c.588C>G c.(586-588)ttC>ttG p.F196L ITGAM_ENST00000287497.8_Missense_Mutation_p.F196L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 196 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTGAAGAATTCCGGATTCACT 0.557000 16 45 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354208 10354208 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:10354208C>A ENST00000255381.2 - 29 3980 c.3870G>T c.(3868-3870)gaG>gaT p.E1290D CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1290 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTCGTGAAAACTCACCTGTGG 0.353000 38 73 1.59361e-14 2.4388e-14 1 1 0 FBN2 2201 broad.mit.edu 37 5 127800434 127800434 + Missense_Mutation SNP C C A rs148971572 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:127800434C>A ENST00000508053.1 - 12 1783 c.809G>T c.(808-810)cGc>cTc p.R270L FBN2_ENST00000508989.1_Missense_Mutation_p.R237L|FBN2_ENST00000262464.4_Missense_Mutation_p.R270L P35556 FBN2_HUMAN fibrillin 2 270 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) AGCTCCAGTGCGGATGTTGGG 0.592000 9 57 7.48243e-07 9.243e-07 1 1 0 TICAM1 148022 broad.mit.edu 37 19 4817343 4817343 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:4817343G>C ENST00000248244.5 - 2 1276 c.1047C>G c.(1045-1047)tgC>tgG p.C349W NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 349 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GAGTAGGTGGGCACGGCTTGG 0.557000 21 40 0 0 1 0 0 TMEM89 440955 broad.mit.edu 37 3 48658349 48658349 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:48658349T>A ENST00000330862.3 - 2 504 c.406A>T c.(406-408)Atc>Ttc p.I136F NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 136 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGGCCTTCGATGTGGACCAGG 0.607000 36 82 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632712 32632712 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:32632712C>A ENST00000242310.4 - 1 2955 c.2866G>T c.(2866-2868)Gcc>Tcc p.A956S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 956 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCAATGAAGGCCCTTGTGGTG 0.478000 18 132 4.75885e-15 7.35724e-15 1 1 0 AE000661.37 0 broad.mit.edu 37 14 22934742 22934742 + RNA SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:22934742A>T ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA TTTATGTCCTAACTGCTTTGT 0.388000 13 61 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859821 144859821 + Missense_Mutation SNP G G A rs71923781 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:144859821G>A ENST00000369359.4 - 41 6709 c.6671C>T c.(6670-6672)tCc>tTc p.S2224F RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2173F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2088F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1982F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S2088F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2088 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTAATGGAGGAGGGGCTGAG 0.572000 T PDGFRB MPD 12 92 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599525 179599525 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179599525C>T ENST00000589042.1 - 51 15350 c.15126G>A c.(15124-15126)acG>acA p.T5042T TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.T3798T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T4725T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4725 Ig-like 31. 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) CTTTTACATCCGTAATATCAA 0.373000 12 102 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729004 116729004 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:116729004T>C ENST00000375300.1 - 20 3038 c.3033A>G c.(3031-3033)caA>caG p.Q1011Q SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Silent_p.Q951Q|SIK3_ENST00000375288.1_Silent_p.Q288Q|SIK3_ENST00000434315.2_Silent_p.Q792Q|SIK3_ENST00000292055.4_Silent_p.Q953Q|SIK3_ENST00000542607.1_Silent_p.Q893Q Q9Y2K2 SIK3_HUMAN SIK family kinase 3 953 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATTCTtgctgttgctgctgtt 0.592000 5 45 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76174925 76174925 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:76174925G>T ENST00000529032.1 + 6 632 c.632G>T c.(631-633)aGc>aTc p.S211I C11orf30_ENST00000343878.3_Missense_Mutation_p.S211I|C11orf30_ENST00000334736.3_Missense_Mutation_p.S211I|C11orf30_ENST00000533248.1_Missense_Mutation_p.S225I|C11orf30_ENST00000525919.1_Missense_Mutation_p.S212I|C11orf30_ENST00000525038.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524767.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524490.1_Missense_Mutation_p.S212I Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 211 Interaction with BRCA2.|Poly-Ser. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AACTCTTCCAGCTCCTCTCCT 0.448000 73 118 1.92865e-43 3.48818e-43 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62288392 62288392 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:62288392T>C ENST00000378024.4 - 5 13771 c.13497A>G c.(13495-13497)gaA>gaG p.E4499E AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4499 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGAGCTTCCCTTCAGGACCTT 0.443000 13 105 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90651010 90651010 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:90651010G>T ENST00000282146.4 + 2 1331 c.890G>T c.(889-891)gGg>gTg p.G297V NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 297 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) ATGGACAGCGGGTGCTGCCCG 0.532000 17 91 6.49762e-13 9.59414e-13 1 1 0 ABCB8 11194 broad.mit.edu 37 7 150730965 150730965 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:150730965T>C ENST00000358849.4 + 2 462 c.369T>C c.(367-369)ttT>ttC p.F123F ABCB8_ENST00000477719.1_Silent_p.F123F|ABCB8_ENST00000477092.1_Silent_p.F123F|ABCB8_ENST00000297504.6_Silent_p.F140F|ABCB8_ENST00000356058.4_Silent_p.F160F|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Silent_p.F123F|ABCB8_ENST00000493338.1_3'UTR NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 140 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGGCAGTTTCTGCACCCCC 0.622000 10 50 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523266 92523266 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:92523266A>T ENST00000298047.6 + 7 4510 c.4493A>T c.(4492-4494)cAt>cTt p.H1498L FAT3_ENST00000409404.2_Missense_Mutation_p.H1498L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1348L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1498 Cadherin 14. 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) TACACTGTTCATAGCAGCATC 0.512000 TCGA Ovarian(4;0.039) 42 171 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6978258 6978258 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:6978258G>T ENST00000389658.3 - 43 6220 c.6127C>A c.(6127-6129)Ctg>Atg p.L2043M NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2043 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCTGGACAGGCTGGCAGAT 0.597000 14 108 9.31168e-06 1.11387e-05 1 1 0 MGAM 8972 broad.mit.edu 37 7 141794611 141794611 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:141794611A>T ENST00000475668.2 + 63 7460 c.7406A>T c.(7405-7407)cAg>cTg p.Q2469L MGAM_ENST00000549489.2_Missense_Mutation_p.Q1573L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1573 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGCTGGATGCAGCTGGGGGCC 0.498000 5 35 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17883113 17883113 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:17883113C>A ENST00000448223.2 - 20 2475 c.2206G>T c.(2206-2208)Gta>Tta p.V736L SMC6_ENST00000351948.4_Missense_Mutation_p.V736L|SMC6_ENST00000381272.4_Missense_Mutation_p.V762L|SMC6_ENST00000402989.1_Missense_Mutation_p.V736L NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 736 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCAATATCTACAGACTGGTGT 0.269000 7 9 2.17888e-05 2.56179e-05 1 1 0 TGFB1 7040 broad.mit.edu 37 19 41847918 41847918 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:41847918G>A ENST00000221930.5 - 5 1596 c.730C>T c.(730-732)Cga>Tga p.R244* NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 244 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) AGGTCACCTCGGCGGCCGGTA 0.617000 7 28 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110883936 110883936 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110883936G>T ENST00000369784.3 + 1 2809 c.1909G>T c.(1909-1911)Gac>Tac p.D637Y RBM15_ENST00000487146.2_Missense_Mutation_p.D637Y|RBM15_ENST00000602849.1_Missense_Mutation_p.D637Y NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 637 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGCAGCAGAGACCAGCCTAG 0.592000 T MKL1 acute megakaryocytic leukemia 11 32 1.58986e-06 1.93237e-06 1 1 0 WNT10A 80326 broad.mit.edu 37 2 219754997 219754997 + Missense_Mutation SNP G G T rs143424659 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:219754997G>T ENST00000258411.3 + 3 1301 c.668G>T c.(667-669)cGc>cTc p.R223L NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 223 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCGGGGAGCGCTTTTCTAAG 0.647000 9 31 7.48243e-07 9.243e-07 1 1 0 PCCB 5096 broad.mit.edu 37 3 135969287 135969287 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:135969287G>A ENST00000471595.1 + 1 88 c.70G>A c.(70-72)Gcg>Acg p.A24T PCCB_ENST00000483687.1_Missense_Mutation_p.A24T|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000251654.4_Missense_Mutation_p.A24T|PCCB_ENST00000482086.1_Missense_Mutation_p.A24T|PCCB_ENST00000490504.1_Missense_Mutation_p.A24T|PCCB_ENST00000478469.1_Missense_Mutation_p.A24T|PCCB_ENST00000466072.1_Missense_Mutation_p.A24T|PCCB_ENST00000468777.1_Missense_Mutation_p.A24T|PCCB_ENST00000462637.1_Missense_Mutation_p.A24T|PCCB_ENST00000469217.1_Missense_Mutation_p.A24T P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 24 fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) TCTCCGCGCCGCGGTCCGCAG 0.692000 OREG0015823 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92224265 92224265 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92224265G>T ENST00000212355.4 - 4 754 c.289C>A c.(289-291)Cac>Aac p.H97N TGFBR3_ENST00000525962.1_Missense_Mutation_p.H97N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H97N|TGFBR3_ENST00000468996.2_5'UTR NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 97 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ACAGACTTGTGGTGGATGTGG 0.507000 13 128 7.03913e-09 9.48588e-09 1 1 0 GFI1 2672 broad.mit.edu 37 1 92948935 92948935 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:92948935C>G ENST00000370332.1 - 2 428 c.110G>C c.(109-111)cGa>cCa p.R37P GFI1_ENST00000427103.1_Missense_Mutation_p.R37P|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Missense_Mutation_p.R37P NM_001127215.1 NP_001120687.1 Q99684 GFI1_HUMAN growth factor independent 1 transcription repressor 37 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CGCACCTGCTCGGCTAGGCGC 0.647000 7 21 0 0 1 0 0 JAM2 58494 broad.mit.edu 37 21 27071170 27071170 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr21:27071170G>A ENST00000480456.1 + 5 1126 c.576G>A c.(574-576)atG>atA p.M192I JAM2_ENST00000312957.5_Missense_Mutation_p.M192I|JAM2_ENST00000425221.2_Missense_Mutation_p.M156I|JAM2_ENST00000400532.1_Missense_Mutation_p.M192I NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 192 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 CATACACAATGAATACAAAAA 0.378000 18 81 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796746 109796746 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:109796746G>C ENST00000297459.3 - 2 760 c.582C>G c.(580-582)atC>atG p.I194M TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 194 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CGATGTAAGAGATGATCACGA 0.552000 24 60 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108810978 108810978 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:108810978C>T ENST00000322536.3 + 18 2585 c.2456C>T c.(2455-2457)aCc>aTc p.T819I DDX10_ENST00000534221.1_3'UTR NM_004398.2 NP_004389.2 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 819 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACCAGTGATACCAAGAAGAAG 0.393000 T NUP98 AML* 5 68 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432731 72432731 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:72432731A>G ENST00000425175.1 + 24 3227 c.3110A>G c.(3109-3111)cAc>cGc p.H1037R SLC4A4_ENST00000351898.6_Silent_p.S985S|SLC4A4_ENST00000340595.3_Silent_p.S1025S|SLC4A4_ENST00000264485.5_Silent_p.S1069S NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 70 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAGAAAGATCACCAACATTCC 0.338000 11 48 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128480720 128480720 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:128480720C>A ENST00000325888.8 + 10 1929 c.1668C>A c.(1666-1668)atC>atA p.I556I FLNC_ENST00000346177.6_Silent_p.I556I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 556 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCTACGCCATCCCTCGCAGGT 0.637000 23 90 2.27731e-05 2.66921e-05 1 1 0 OR2M5 127059 broad.mit.edu 37 1 248308625 248308625 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:248308625T>C ENST00000366476.1 + 1 176 c.176T>C c.(175-177)aTg>aCg p.M59T NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACACCCCCATGTACTTCCTC 0.512000 55 545 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51135968 51135968 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:51135968C>A ENST00000338916.4 - 2 882 c.249G>T c.(247-249)tgG>tgT p.W83C SYT3_ENST00000600079.1_Missense_Mutation_p.W83C|SYT3_ENST00000544769.1_Missense_Mutation_p.W83C|SYT3_ENST00000593901.1_Missense_Mutation_p.W83C NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 83 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCTTGTCCCGCCAGGGCACCC 0.652000 12 63 0.010729 0.0111112 1 1 0 PTGS2 5743 broad.mit.edu 37 1 186645994 186645994 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:186645994G>T ENST00000367468.5 - 6 830 c.694C>A c.(694-696)Ctt>Att p.L232I PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 232 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TCCTTGAAAAGGCGCAGTTTA 0.318000 59 202 4.45325e-31 7.84769e-31 1 1 0 GPR35 2859 broad.mit.edu 37 2 241569824 241569824 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:241569824G>T ENST00000319838.5 + 6 1397 c.455G>T c.(454-456)tGg>tTg p.W152L GPR35_ENST00000407714.1_Missense_Mutation_p.W152L|GPR35_ENST00000403859.1_Missense_Mutation_p.W152L|GPR35_ENST00000430267.1_Missense_Mutation_p.W152L|GPR35_ENST00000438013.2_Missense_Mutation_p.W183L NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 152 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) GTGGCTCGCTGGCTCCTGGGG 0.701000 6 44 0.00198382 0.00210346 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107575875 107575875 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:107575875T>C ENST00000393561.1 - 25 4429 c.4245A>G c.(4243-4245)tcA>tcG p.S1415S LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Silent_p.S1391S P07942 LAMB1_HUMAN laminin, beta 1 1391 Domain alpha. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGCAGCGGCTGAAAGGTCTA 0.438000 12 215 0 0 1 0 0 ADM2 79924 broad.mit.edu 37 22 50921163 50921163 + Missense_Mutation SNP G G A rs72438078 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr22:50921163G>A ENST00000395738.2 + 2 570 c.278G>A c.(277-279)cGa>cAa p.R93Q ADM2_ENST00000362068.2_Missense_Mutation_p.E10K|ADM2_ENST00000395737.1_Missense_Mutation_p.R93Q NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 93 positive regulation of angiogenesis extracellular region hormone activity p.H95_R100delHSGPRR(1) breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGGGCCCCCGAAGACACTCG 0.692000 6 12 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467859 66467859 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:66467859C>A ENST00000273854.3 - 3 1010 c.410G>T c.(409-411)tGc>tTc p.C137F EPHA5_ENST00000432638.2_Missense_Mutation_p.C137F|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137F|EPHA5_ENST00000354839.4_Missense_Mutation_p.C137F NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 137 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AAGGCTGTTGCAGTCCCGCAG 0.428000 TSP Lung(17;0.13) 20 83 2.98393e-07 3.80414e-07 1 1 0 LINC00521 256369 broad.mit.edu 37 14 94464474 94464474 + RNA SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:94464474G>C ENST00000444118.1 + 0 154 NR_024182.1 GCGGTGGTGAGGTGATGGCAG 0.582000 3 25 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881308 35881308 + Silent SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:35881308A>T ENST00000314607.6 + 28 4382 c.4302A>T c.(4300-4302)tcA>tcT p.S1434S ZMYM4_ENST00000373297.2_Silent_p.S1345S NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1434 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCAGGAGTCAGAACCAGGTA 0.413000 19 40 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42930740 42930740 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:42930740C>G ENST00000426333.2 - 25 2782 c.2485G>C c.(2485-2487)Gag>Cag p.E829Q EFTUD2_ENST00000402521.3_Missense_Mutation_p.E794Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E819Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E829Q NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 829 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TAGTAAGGCTCCATCAGACGA 0.587000 30 96 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8999176 8999176 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:8999176C>G ENST00000344836.4 - 14 1639 c.1441G>C c.(1441-1443)Gat>Cat p.D481H USP7_ENST00000381886.4_Missense_Mutation_p.D465H|USP7_ENST00000535863.1_Missense_Mutation_p.D382H NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 481 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ACGTCGTCATCAAATTTACAC 0.458000 OREG0023595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 97 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118560423 118560423 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:118560423A>G ENST00000311085.8 + 37 8314 c.8234A>G c.(8233-8235)aAt>aGt p.N2745S DMXL1_ENST00000539542.1_Missense_Mutation_p.N2766S|DMXL1_ENST00000505312.1_3'UTR NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2745 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAAGCCATTAATAATGTTAGA 0.244000 10 52 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101755671 101755671 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:101755671C>A ENST00000251127.6 - 26 2990 c.2909G>T c.(2908-2910)tGt>tTt p.C970F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 970 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGGCATCCAACAAAGAAATAT 0.453000 18 47 7.07596e-05 8.10519e-05 1 1 0 WDR63 126820 broad.mit.edu 37 1 85592345 85592345 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:85592345C>A ENST00000294664.6 + 20 2444 c.2264C>A c.(2263-2265)tCt>tAt p.S755Y WDR63_ENST00000370596.1_Missense_Mutation_p.S716Y|WDR63_ENST00000326813.8_Missense_Mutation_p.S716Y NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 755 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CCAGCCCAGTCTCAAAACATT 0.433000 17 91 3.32936e-07 4.21607e-07 1 1 0 ZNF572 137209 broad.mit.edu 37 8 125988735 125988735 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:125988735G>T ENST00000319286.5 + 3 379 c.225G>T c.(223-225)tgG>tgT p.W75C NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CACTGACATGGGTTCAAGATG 0.388000 HNSCC(60;0.17) 22 70 1.37657e-19 2.26728e-19 1 1 0 PIGQ 9091 broad.mit.edu 37 16 624190 624190 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:624190C>G ENST00000321878.5 + 2 275 c.116C>G c.(115-117)cCc>cGc p.P39R PIGQ_ENST00000409527.2_Missense_Mutation_p.P39R|PIGQ_ENST00000026218.5_Missense_Mutation_p.P39R|PIGQ_ENST00000470411.2_Missense_Mutation_p.P39R NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 39 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CTGCACTTTCCCTTCATCCCC 0.701000 7 21 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133070955 133070955 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:133070955C>T ENST00000326499.6 - 6 1374 c.1250G>A c.(1249-1251)cGg>cAg p.R417Q VNN2_ENST00000525270.1_Missense_Mutation_p.R364Q|VNN2_ENST00000525289.1_Missense_Mutation_p.R196Q NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 417 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TTCTACTGGCCGTCCACAAGT 0.408000 6 66 0 0 1 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927203 53927203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:53927203C>A ENST00000371445.3 + 2 690 c.635C>A c.(634-636)tCc>tAc p.S212Y DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 212 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CCTGGTGGCTCCAGCATGCAC 0.652000 16 120 1.15088e-07 1.48729e-07 1 1 0 DPY19L4 286148 broad.mit.edu 37 8 95802050 95802050 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:95802050C>T ENST00000414645.2 + 19 2183 c.2084C>T c.(2083-2085)tCt>tTt p.S695F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 695 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ATTAACTATTCTCCATATGTG 0.313000 26 113 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41738734 41738734 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:41738734C>A ENST00000318579.4 - 1 588 c.169G>T c.(169-171)Gca>Tca p.A57S MEOX1_ENST00000549132.1_Silent_p.R27R|MEOX1_ENST00000329168.3_Missense_Mutation_p.A57S|MEOX1_ENST00000393661.2_5'UTR NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 57 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GGGTACGCTGCCGTCGCTGTC 0.642000 23 45 6.21321e-17 9.86804e-17 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57181839 57181839 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:57181839C>T ENST00000504228.1 + 6 2276 c.2171C>T c.(2170-2172)gCc>gTc p.A724V KIAA1211_ENST00000264229.6_Missense_Mutation_p.A724V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A717V Q6ZU35 K1211_HUMAN KIAA1211 724 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATTATGCCTGCCTGGCAGAAA 0.557000 13 74 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54041979 54041979 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:54041979G>T ENST00000373980.4 + 14 2029 c.1612G>T c.(1612-1614)Gag>Tag p.E538* PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E241*|PRKG1_ENST00000401604.2_Nonsense_Mutation_p.E523*|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E511* NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 523 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TGGGACTCCAGAGTATGTAGC 0.418000 30 44 3.1745e-13 4.72425e-13 1 1 0 C9orf72 203228 broad.mit.edu 37 9 27562475 27562475 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:27562475C>A ENST00000380003.3 - 4 568 c.e4-1 C9orf72_ENST00000488117.1_Splice_Site|C9orf72_ENST00000379997.3_Splice_Site NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) TACTCTGACCCTGCACAATAA 0.333000 9 33 0.000442599 0.000482836 1 1 0 IGHM 3507 broad.mit.edu 37 14 106321254 106321254 + RNA SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:106321254C>T ENST00000390559.2 - 0 734 GGTCTGTGACCAGGCAGGTCA 0.567000 46 107 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79408995 79408995 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:79408995C>G ENST00000307745.7 + 9 620 c.620C>G c.(619-621)tCc>tGc p.S207C GAGGCAGGCTCCCTGCAGAAG 0.711000 5 64 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150432716 150432716 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:150432716T>G ENST00000401000.4 + 8 1321 c.1256T>G c.(1255-1257)tTg>tGg p.L419W RPRD2_ENST00000369068.4_Missense_Mutation_p.L445W|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L419W Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 445 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GCATTGGCTTTGCCAAACCTG 0.473000 9 26 0 0 1 0 0 C19orf59 199675 broad.mit.edu 37 19 7742570 7742570 + Nonsense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:7742570C>T ENST00000333598.3 + 2 596 c.142C>T c.(142-144)Cag>Tag p.Q48* C19orf59_ENST00000597445.1_Intron NM_174918.2 NP_777578.2 Q8IX19 MCEM1_HUMAN chromosome 19 open reading frame 59 48 integral to membrane endometrium(1)|lung(2)|skin(1)|stomach(1) 5 CTTCAAAAATCAGGACCATGC 0.577000 OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 54 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294243 29294243 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:29294243T>A ENST00000331664.5 - 1 2884 c.2885A>T c.(2884-2886)cAc>cTc p.H962L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 962 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 AGGGCCGGAGTGGTGCCAGGC 0.647000 4 57 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165514132 165514132 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:165514132T>A ENST00000294818.1 + 1 889 c.599T>A c.(598-600)aTa>aAa p.I200K RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 200 LRRCT. integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ATCTTCTTAATAGTGTTCCAT 0.498000 37 157 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154201188 154201188 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:154201188G>T ENST00000428931.1 + 4 433 c.266G>T c.(265-267)gGa>gTa p.G89V UBAP2L_ENST00000271877.7_Missense_Mutation_p.G89V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G89V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.G89V NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 89 UBA. binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTCTGGAAGGAAACCCAGAC 0.423000 12 104 4.3838e-07 5.53281e-07 1 1 0 ZNF585A 199704 broad.mit.edu 37 19 37644259 37644259 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:37644259A>G ENST00000356958.4 - 5 800 c.542T>C c.(541-543)aTg>aCg p.M181T ZNF585A_ENST00000355533.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.M126T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.M126T Q6P3V2 Z585A_HUMAN zinc finger protein 585A 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCTCTCTCATATGGGTTTT 0.393000 20 108 0 0 1 0 0 LCE2D 353141 broad.mit.edu 37 1 152636817 152636817 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152636817G>T ENST00000368784.1 + 2 291 c.236G>T c.(235-237)cGt>cTt p.R79L NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 79 Cys-rich. keratinization p.R79H(1) large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACAGGCCCCGTCTCTTCCAC 0.682000 55 143 4.09106e-26 7.07745e-26 1 1 0 LDLRAD4 753 broad.mit.edu 37 18 13645348 13645348 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:13645348G>T ENST00000361205.4 + 7 1281 c.613G>T c.(613-615)Gtg>Ttg p.V205L LDLRAD4_ENST00000587757.1_Missense_Mutation_p.V168L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.V205L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.V107L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.V128L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.V150L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.V187L NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 CCGAGAGTCCGTGAGGGCCCC 0.582000 11 81 6.40141e-05 7.34365e-05 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 58 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33692207 33692207 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:33692207T>C ENST00000336934.5 - 8 2392 c.2276A>G c.(2275-2277)tAt>tGt p.Y759C STARD13_ENST00000399365.3_Missense_Mutation_p.Y641C|STARD13_ENST00000255486.4_Missense_Mutation_p.Y751C NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 759 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTTACACTGATAGATATGGAG 0.403000 27 47 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136376 134136376 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:134136376C>A ENST00000372271.3 - 2 1052 c.685G>T c.(685-687)Gcc>Tcc p.A229S FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.A226S NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 229 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CGCAGCCGGGCGCGCTGGCCC 0.652000 23 66 1.9806e-07 2.55082e-07 1 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21769217 21769217 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:21769217G>T ENST00000206660.6 + 3 311 c.311G>T c.(310-312)gGg>gTg p.G104V RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G104V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G104V|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G104V Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 104 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GCAAGGCGCGGGCAGAAGGCG 0.726000 6 37 5.9392e-07 7.42155e-07 1 1 0 EXPH5 23086 broad.mit.edu 37 11 108382102 108382102 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:108382102C>G ENST00000265843.4 - 6 4242 c.4132G>C c.(4132-4134)Gat>Cat p.D1378H EXPH5_ENST00000525344.1_Missense_Mutation_p.D1371H|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1190H|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1302H NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1378 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTTCTGAATCACCTAGAGGT 0.373000 28 67 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71078980 71078980 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:71078980C>A ENST00000452400.2 - 7 732 c.551G>T c.(550-552)gGa>gTa p.G184V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 184 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGACCAAGATCCCCCATTTAC 0.408000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 48 187 1.47857e-17 2.38337e-17 1 1 0 EVPL 2125 broad.mit.edu 37 17 74003663 74003663 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:74003663C>T ENST00000301607.3 - 22 5876 c.5623G>A c.(5623-5625)Gag>Aag p.E1875K EVPL_ENST00000586740.1_Missense_Mutation_p.E1897K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1875 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GAGTAGCGCTCACGGCTGAGC 0.632000 11 131 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267221 66267221 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:66267221G>T ENST00000327268.4 - 6 1244 c.1080C>A c.(1078-1080)taC>taA p.Y360* SLC16A6_ENST00000580666.1_Nonsense_Mutation_p.Y360*|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 360 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TGAGCTCAATGTAAATCTTAC 0.433000 38 104 6.05902e-23 1.02704e-22 1 1 0 TBC1D15 64786 broad.mit.edu 37 12 72290500 72290500 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:72290500T>C ENST00000550746.1 + 10 1143 c.1079T>C c.(1078-1080)cTg>cCg p.L360P TBC1D15_ENST00000485960.2_Missense_Mutation_p.L343P|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L114P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L351P NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 360 Rab-GAP TBC. protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAATTTCTTCTGGGTTATTTT 0.338000 20 45 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73434883 73434883 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr3:73434883G>T ENST00000263666.4 - 9 1686 c.1572C>A c.(1570-1572)caC>caA p.H524Q PDZRN3_ENST00000535920.1_Missense_Mutation_p.H246Q|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H181Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H241Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H181Q NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 524 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCATGTCCATGTGCAGGTCAT 0.562000 21 67 7.88262e-20 1.31261e-19 1 1 0 NCSTN 23385 broad.mit.edu 37 1 160314522 160314522 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:160314522G>T ENST00000368063.1 + 3 316 c.36G>T c.(34-36)agG>agT p.R12S NCSTN_ENST00000392212.4_Missense_Mutation_p.R12S|NCSTN_ENST00000294785.5_Missense_Mutation_p.R32S|NCSTN_ENST00000535857.1_Missense_Mutation_p.R32S Q92542 NICA_HUMAN nicastrin 32 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTTTGTGCAGGGGAAACTCAG 0.438000 14 57 2.31682e-05 2.71133e-05 1 1 0 TAF15 8148 broad.mit.edu 37 17 34171540 34171540 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:34171540G>A ENST00000588240.1 + 15 1352 c.1237G>A c.(1237-1239)Gga>Aga p.G413R TAF15_ENST00000592237.1_Missense_Mutation_p.G322R|TAF15_ENST00000311979.3_Missense_Mutation_p.G410R NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 413 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGGCAGAggtggagaccgagg 0.592000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 39 115 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191660 66191660 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:66191660C>G ENST00000311034.2 + 7 1475 c.1299C>G c.(1297-1299)ggC>ggG p.G433G NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 433 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 AGCCAGGAGGCTGTGCCTTCC 0.557000 80 160 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115409891 115409891 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:115409891G>T ENST00000369358.4 - 9 1037 c.793C>A c.(793-795)Cat>Aat p.H265N NRAP_ENST00000359988.3_Missense_Mutation_p.H265N|NRAP_ENST00000360478.3_Missense_Mutation_p.H265N|NRAP_ENST00000369360.3_Missense_Mutation_p.H265N Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 265 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TATTGTTGATGGTACCTCACC 0.443000 35 201 1.30015e-28 2.28054e-28 1 1 0 DSG3 1830 broad.mit.edu 37 18 29049188 29049188 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:29049188C>T ENST00000257189.4 + 12 1856 c.1773C>T c.(1771-1773)aaC>aaT p.N591N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 591 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTGTGACAACAGGGGCATCT 0.582000 19 92 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143028687 143028687 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:143028687C>A ENST00000343257.2 + 10 1195 c.1108C>A c.(1108-1110)Cgc>Agc p.R370S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 370 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.R370S(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTATCTGCATCGCCAAGTCAT 0.478000 7 69 0.000274275 0.000301384 1 1 0 BMPER 168667 broad.mit.edu 37 7 34125418 34125418 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:34125418C>A ENST00000297161.2 + 14 1833 c.1459C>A c.(1459-1461)Ccg>Acg p.P487T BMPER_ENST00000426693.1_Missense_Mutation_p.P487T NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 487 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CATGGCTGCGCCGCATCTCAA 0.438000 17 62 5.3912e-06 6.45919e-06 1 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43678731 43678731 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:43678731G>C ENST00000374466.3 + 8 1705 c.1370G>C c.(1369-1371)gGa>gCa p.G457A NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 457 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGTTGGGGTGGAGAAGATGTT 0.408000 24 164 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810867 123810867 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:123810867C>A ENST00000307033.2 + 1 618 c.544C>A c.(544-546)Cct>Act p.P182T NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGTGATGTGCCTCAGCTGAT 0.478000 38 165 5.43694e-19 8.8749e-19 1 1 0 DNHD1 144132 broad.mit.edu 37 11 6524146 6524146 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:6524146C>T ENST00000254579.6 + 4 1474 c.910C>T c.(910-912)Cgg>Tgg p.R304W DNHD1_ENST00000527990.2_Missense_Mutation_p.R304W|DNHD1_ENST00000354685.3_Missense_Mutation_p.R304W NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 304 microtubule-based movement dynein complex microtubule motor activity p.R304W(2) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCTCCCAGCCGGTACTTTAG 0.537000 17 32 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22023023 22023023 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:22023023G>C ENST00000306385.5 + 1 775 c.105G>C c.(103-105)gaG>gaC p.E35D BMP1_ENST00000354870.5_Missense_Mutation_p.E35D|BMP1_ENST00000397816.3_Missense_Mutation_p.E35D|BMP1_ENST00000306349.8_Missense_Mutation_p.E35D|BMP1_ENST00000397814.3_Missense_Mutation_p.E35D NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 35 cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGGCGGAGGAGGACGACTCGG 0.761000 6 9 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236908062 236908062 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:236908062C>A ENST00000366578.4 + 12 1558 c.1392C>A c.(1390-1392)atC>atA p.I464I ACTN2_ENST00000542672.1_Silent_p.I464I|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 464 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) TCGCAGCCATCGCGCAGGAGC 0.657000 7 48 0.0293803 0.0299751 1 1 0 TM9SF2 9375 broad.mit.edu 37 13 100193814 100193814 + Splice_Site SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:100193814A>G ENST00000376387.4 + 9 1100 c.908_splice c.e9-1 p.I304_splice NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 304 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TTTCTACAGCATTATGAATTC 0.333000 33 64 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133894759 133894759 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:133894759G>C ENST00000220616.4 + 7 831 c.791G>C c.(790-792)gGc>gCc p.G264A TG_ENST00000377869.1_Missense_Mutation_p.G264A NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 264 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATTTTTGCTGGCCTGGACCTT 0.478000 55 217 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099917 50099917 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:50099917G>T ENST00000418929.2 + 4 2337 c.2325G>T c.(2323-2325)caG>caT p.Q775H NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 476 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGTCTACCCAGCCCACTCCCC 0.701000 4 29 0.014758 0.015159 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725511 140725511 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:140725511G>T ENST00000253812.6 + 1 1911 c.1911G>T c.(1909-1911)gcG>gcT p.A637A PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAGACGCGCTCAAGCAGA 0.701000 23 78 3.11337e-16 4.88322e-16 1 1 0 TRMT2B 79979 broad.mit.edu 37 X 100292981 100292981 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:100292981G>C ENST00000372936.3 - 5 1135 c.363C>G c.(361-363)ctC>ctG p.L121L TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000545398.1_Silent_p.L121L|TRMT2B_ENST00000372931.5_Silent_p.L121L|TRMT2B_ENST00000372935.1_Silent_p.L121L|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000338687.7_Intron NM_024917.5 NP_079193.2 Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 121 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 TGACTCCATTGAGCATTTGGA 0.428000 70 150 0 0 1 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269404 30269404 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:30269404C>A ENST00000378981.3 + 4 1115 c.794C>A c.(793-795)cCc>cAc p.P265H MAGEB1_ENST00000397548.2_Missense_Mutation_p.P265H|MAGEB1_ENST00000397550.1_Missense_Mutation_p.P265H NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 265 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 AACAGTGATCCCCCACGCTAT 0.507000 24 33 4.26978e-12 6.2076e-12 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196723505 196723505 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:196723505C>A ENST00000312428.6 - 43 7860 c.7760G>T c.(7759-7761)aGa>aTa p.R2587I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2587 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CACTTCATATCTCTTTTTCAT 0.373000 24 103 6.36457e-07 7.92688e-07 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44576029 44576029 + Splice_Site SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:44576029T>C ENST00000289547.4 - 4 1737 c.e4-2 NPC1L1_ENST00000423141.1_Splice_Site|NPC1L1_ENST00000546276.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGTCCTTTCCTGGGATAAGAA 0.607000 25 58 0 0 1 0 0 LAP3 51056 broad.mit.edu 37 4 17585192 17585192 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:17585192G>T ENST00000226299.4 + 5 740 c.466G>T c.(466-468)Gtg>Ttg p.V156L LAP3_ENST00000606142.1_Missense_Mutation_p.V125L NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 156 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 GGAGGGAGCGGTGCTTGGTCT 0.527000 26 76 3.28513e-13 4.86972e-13 1 1 0 OR4D10 390197 broad.mit.edu 37 11 59245091 59245091 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:59245091C>A ENST00000530162.1 + 1 246 c.189C>A c.(187-189)ctC>ctA p.L63L NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATTTTTTGCTCCATAATTTAT 0.443000 72 168 5.1178e-15 7.89604e-15 1 1 0 NIPAL4 348938 broad.mit.edu 37 5 156899856 156899856 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:156899856C>T ENST00000311946.7 + 6 1405 c.1289C>T c.(1288-1290)cCg>cTg p.P430L NIPAL4_ENST00000435489.2_Missense_Mutation_p.P411L|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 430 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 TCTCCCGCCCCGGAACCCACT 0.498000 12 22 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30793054 30793054 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:30793054T>A ENST00000262525.4 - 3 2802 c.2595A>T c.(2593-2595)ccA>ccT p.P865P NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 865 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) GGGAGACACCTGGGTGGCAGC 0.562000 10 37 0 0 1 0 0 NAAA 27163 broad.mit.edu 37 4 76841044 76841044 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:76841044C>A ENST00000505594.1 - 7 875 c.684G>T c.(682-684)gtG>gtT p.V228V NAAA_ENST00000399497.3_Intron|NAAA_ENST00000286733.4_Intron|NAAA_ENST00000511606.1_Intron|NAAA_ENST00000507956.1_Intron Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 0 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 GTATGCAGGACACTGTGACAC 0.408000 11 54 1.08611e-07 1.41082e-07 1 1 0 TMEM255A 55026 broad.mit.edu 37 X 119410810 119410810 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:119410810G>A ENST00000371369.4 - 7 831 c.605C>T c.(604-606)aCc>aTc p.T202I TMEM255A_ENST00000309720.5_Missense_Mutation_p.T226I|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.T62I NM_001104544.1 NP_001098014.1 transmembrane protein 255A GTTGAGGATGGTGGCAGACCA 0.507000 32 50 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45268061 45268061 + Silent SNP C C T rs144015985 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:45268061C>T ENST00000020926.3 - 5 960 c.849G>A c.(847-849)gaG>gaA p.E283E NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 283 transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CTGCAGATGGCTCCTGAAACA 0.547000 4 19 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099244 50099244 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:50099244G>T ENST00000418929.2 + 4 1664 c.1652G>T c.(1651-1653)aGc>aTc p.S551I NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 324 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGGGGACCCAGCTCCCTGGGA 0.711000 7 44 0.00621372 0.00648836 1 1 0 GAD2 2572 broad.mit.edu 37 10 26558096 26558096 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:26558096A>G ENST00000376261.3 + 9 1472 c.969A>G c.(967-969)aaA>aaG p.K323K GAD2_ENST00000259271.3_Silent_p.K323K NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 323 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TTGAAGCCAAACAGAAAGTAA 0.358000 15 68 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82417712 82417712 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:82417712T>C ENST00000370728.1 + 11 2313 c.1668T>C c.(1666-1668)gcT>gcC p.A556A LPHN2_ENST00000370725.1_Silent_p.A556A|LPHN2_ENST00000359929.3_Silent_p.A556A|LPHN2_ENST00000370717.2_Silent_p.A556A|LPHN2_ENST00000370727.1_Silent_p.A556A|LPHN2_ENST00000319517.6_Silent_p.A556A|LPHN2_ENST00000394879.1_Silent_p.A556A|LPHN2_ENST00000271029.4_Silent_p.A556A|LPHN2_ENST00000370730.1_Silent_p.A556A|LPHN2_ENST00000335786.5_Silent_p.A556A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.A556A|LPHN2_ENST00000370723.1_Silent_p.A556A|LPHN2_ENST00000370721.1_Silent_p.A494A|LPHN2_ENST00000370713.1_Silent_p.A556A O95490 LPHN2_HUMAN latrophilin 2 556 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAGTGTTTGCTGGGGATGTAA 0.428000 12 74 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175123 125175123 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:125175123G>T ENST00000431078.1 + 4 849 c.485G>T c.(484-486)aGt>aTt p.S162I NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 162 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.S162N(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGAATCCCAGTGGGAAGATT 0.502000 3 25 0.004672 0.00488524 1 1 0 CCDC136 64753 broad.mit.edu 37 7 128454947 128454947 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:128454947T>A ENST00000297788.4 + 15 3386 c.3019T>A c.(3019-3021)Tct>Act p.S1007T CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1007 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTCGGATACTTCTGAGAGCGA 0.468000 3 14 0 0 1 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293437 71293437 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:71293437G>T ENST00000398530.1 - 1 484 c.447C>A c.(445-447)ccC>ccA p.P149P KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 149 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGCAGCACACGGGGACAcagc 0.557000 21 140 2.27731e-05 2.66921e-05 1 1 0 C6 729 broad.mit.edu 37 5 41154099 41154099 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:41154099C>A ENST00000263413.3 - 15 2367 c.2101_splice c.e15-1 p.R701_splice C6_ENST00000337836.5_Splice_Site_p.R701_splice NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 701 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCACTCCGTCCCTGCAAGAG 0.393000 93 42 6.65942e-36 1.19019e-35 1 1 0 ARSF 416 broad.mit.edu 37 X 2994711 2994711 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:2994711G>T ENST00000381127.1 + 4 504 c.e4+1 ARSF_ENST00000359361.2_Splice_Site|ARSF_ENST00000537104.1_Splice_Site NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) ATCCGATCAGGTGCGCAAACT 0.582000 5 17 1.23904e-05 1.4682e-05 1 1 0 ATP10B 23120 broad.mit.edu 37 5 159992831 159992831 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:159992831G>T ENST00000327245.5 - 26 4861 c.4015C>A c.(4015-4017)Cca>Aca p.P1339T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1339 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTTGTCTGGGGGGAGTTTG 0.478000 43 112 1.32136e-16 2.08548e-16 1 1 0 NAV3 89795 broad.mit.edu 37 12 78516179 78516179 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:78516179G>T ENST00000397909.2 + 16 4382 c.4209G>T c.(4207-4209)acG>acT p.T1403T NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.T1403T|NAV3_ENST00000228327.6_Silent_p.T1403T Q8IVL0 NAV3_HUMAN neuron navigator 3 1403 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCATGAGAACGGGTAGTGTGA 0.547000 HNSCC(70;0.22) 26 57 3.6726e-16 5.74842e-16 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62041161 62041161 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:62041161C>A ENST00000578147.1 - 10 1553 c.1477G>T c.(1477-1479)Ggt>Tgt p.G493C SCN4A_ENST00000435607.1_Missense_Mutation_p.G493C P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 493 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCCTCCCCACCTTCCAGAGCT 0.617000 8 8 0.000274275 0.000301384 1 1 0 TNXB 7148 broad.mit.edu 37 6 32025991 32025991 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32025991T>A ENST00000375244.3 - 22 7870 c.7669A>T c.(7669-7671)Aag>Tag p.K2557* TNXB_ENST00000375247.2_Nonsense_Mutation_p.K2557* P22105 TENX_HUMAN tenascin XB 2617 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCCCTGTCCTTGTACTGCACG 0.652000 18 56 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524073 108524073 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:108524073C>A ENST00000379007.2 - 2 393 c.339G>T c.(337-339)atG>atT p.M113I NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 113 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 CTTAATTTCCCATTTCCTTTG 0.323000 22 55 3.5997e-14 5.4756e-14 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468266 50468266 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:50468266G>T ENST00000331340.3 + 8 1656 c.1501G>T c.(1501-1503)Gac>Tac p.D501Y IKZF1_ENST00000357364.4_Missense_Mutation_p.D414Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D414Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D271Y|IKZF1_ENST00000359197.5_Missense_Mutation_p.D459Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D414Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D459Y|IKZF1_ENST00000349824.4_Missense_Mutation_p.D358Y NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 501 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CCACAGCCAGGACCGGTACGA 0.627000 """D,T""" BCL6 """ALL, DLBCL""" 6 36 3.59834e-05 4.1723e-05 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468265 50468265 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:50468265G>T ENST00000331340.3 + 8 1655 c.1500G>T c.(1498-1500)caG>caT p.Q500H IKZF1_ENST00000357364.4_Missense_Mutation_p.Q413H|IKZF1_ENST00000343574.5_Missense_Mutation_p.Q413H|IKZF1_ENST00000346667.4_Missense_Mutation_p.Q270H|IKZF1_ENST00000359197.5_Missense_Mutation_p.Q458H|IKZF1_ENST00000438033.1_Missense_Mutation_p.Q413H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.Q458H|IKZF1_ENST00000349824.4_Missense_Mutation_p.Q357H NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 500 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) ACCACAGCCAGGACCGGTACG 0.627000 """D,T""" BCL6 """ALL, DLBCL""" 6 37 3.59834e-05 4.1723e-05 1 1 0 ZNF572 137209 broad.mit.edu 37 8 125988734 125988734 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:125988734G>A ENST00000319286.5 + 3 378 c.224G>A c.(223-225)tGg>tAg p.W75* NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCACTGACATGGGTTCAAGAT 0.383000 HNSCC(60;0.17) 22 70 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22056937 22056937 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:22056937T>C ENST00000256906.4 + 3 684 c.584T>C c.(583-585)aTg>aCg p.M195T HRH4_ENST00000426880.2_Missense_Mutation_p.M107T NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 195 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TATTTCAACATGAATATTTAT 0.438000 35 139 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344535 56344535 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:56344535A>C ENST00000526812.2 - 1 728 c.663T>G c.(661-663)atT>atG p.I221M NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TCGCTGCAAAAATGAAAAGAT 0.453000 8 85 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780254 37780254 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:37780254T>C ENST00000447769.1 + 4 548 c.259T>C c.(259-261)Ttc>Ctc p.F87L EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F87L|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 87 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGGGCTGCCCTTCTGCAAATT 0.488000 10 91 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112510 148112510 + Splice_Site SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:148112510C>G ENST00000361727.3 + 24 4314 c.3796_splice c.e24-1 p.G1266_splice CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Splice_Site_p.G325_splice NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1266 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) CTCCGTCAGGCGTCATTGCTG 0.557000 HNSCC(39;0.1) 6 47 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30505533 30505533 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:30505533G>T ENST00000356798.6 + 12 1394 c.1213_splice c.e12-1 p.G405_splice ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Splice_Site_p.G322_splice|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 405 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CTTTCCTCAGGTTACACCGTG 0.602000 32 85 4.65686e-17 7.4274e-17 1 1 0 PBXIP1 57326 broad.mit.edu 37 1 154920756 154920756 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:154920756C>T ENST00000368463.3 - 6 567 c.496G>A c.(496-498)Gag>Aag p.E166K PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E11K|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E166K|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E137K NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 166 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGCCGGCCTCCCGGCCCCGC 0.682000 6 11 0 0 1 0 0 PRR21 643905 broad.mit.edu 37 2 240982154 240982154 + Silent SNP G G C rs71420284 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:240982154G>C ENST00000408934.1 - 1 245 c.246C>G c.(244-246)ctC>ctG p.L82L NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 82 Pro-rich. NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 TGTGGGTGAAGAGCCGTGGAT 0.612000 16 83 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78369392 78369392 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:78369392C>A ENST00000278550.7 - 34 8483 c.8021G>T c.(8020-8022)tGc>tTc p.C2674F NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGTGTTCAAGCACAGTGCCCC 0.602000 12 13 3.07112e-06 3.69708e-06 1 1 0 MYF5 4617 broad.mit.edu 37 12 81112714 81112714 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:81112714G>T ENST00000228644.3 + 3 804 c.652G>T c.(652-654)Gag>Tag p.E218* NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 218 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CACCTCCTCAGAGCAACCTGG 0.488000 29 66 9.80776e-20 1.62246e-19 1 1 0 MPPED2 744 broad.mit.edu 37 11 30557678 30557678 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:30557678G>A ENST00000448418.2 - 3 533 c.173C>T c.(172-174)aCg>aTg p.T58M MPPED2_ENST00000358117.5_Missense_Mutation_p.T58M NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 58 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 GACAAACCGCGTGTGGCCCGC 0.483000 4 37 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152682016 152682016 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:152682016C>G ENST00000263985.6 - 1 159 c.119G>C c.(118-120)aGg>aCg p.R40T PET112_ENST00000508611.1_Missense_Mutation_p.R40T|PET112_ENST00000512306.1_Missense_Mutation_p.R40T|PET112_ENST00000515812.1_Missense_Mutation_p.R40T NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 40 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTCTCTCCCCTAATCTGGTT 0.597000 13 51 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45475342 45475342 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45475342A>G ENST00000361462.2 + 5 2959 c.2776A>G c.(2776-2778)Aaa>Gaa p.K926E KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.K926E|FAM179B_ENST00000382233.2_Missense_Mutation_p.K926E Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 926 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TTTGCCTGATAAAGCTGATTT 0.423000 14 126 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61295529 61295529 + Missense_Mutation SNP C C A rs17849204 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:61295529C>A ENST00000263846.4 - 5 807 c.480G>T c.(478-480)caG>caT p.Q160H SYT7_ENST00000542836.1_Missense_Mutation_p.Q204H|SYT7_ENST00000542670.1_Missense_Mutation_p.Q368H|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.Q235H|SYT7_ENST00000539008.1_Missense_Mutation_p.Q443H|SYT7_ENST00000535826.1_Missense_Mutation_p.Q279H NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 160 C2 1. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCGGCAGCTCCTGGGCCTTCA 0.607000 52 66 1.35964e-18 2.20104e-18 1 1 0 BNC2 54796 broad.mit.edu 37 9 16419146 16419146 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:16419146C>A ENST00000380672.4 - 7 3198 c.3141G>T c.(3139-3141)aaG>aaT p.K1047N BNC2_ENST00000545497.1_Missense_Mutation_p.K952N|BNC2_ENST00000380667.2_Missense_Mutation_p.K980N NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 1047 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TCAGGGTCCCCTTGTTGCTGT 0.468000 15 46 6.31663e-08 8.31946e-08 1 1 0 ZDHHC6 64429 broad.mit.edu 37 10 114203279 114203279 + Missense_Mutation SNP C C T rs141897265 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:114203279C>T ENST00000369405.3 - 3 776 c.353G>A c.(352-354)tGt>tAt p.C118Y ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C114Y NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 118 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) GTACCTGTTACACTTTCTGCA 0.403000 10 130 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137501538 137501538 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:137501538G>C ENST00000254900.5 - 11 1628 c.1257C>G c.(1255-1257)atC>atG p.I419M BRD8_ENST00000230901.5_Missense_Mutation_p.I492M|BRD8_ENST00000402931.1_Missense_Mutation_p.I419M|BRD8_ENST00000455658.2_Missense_Mutation_p.I378M|BRD8_ENST00000411594.2_Missense_Mutation_p.I422M NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 419 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGATGGCAATGATGTCTCCAA 0.463000 5 85 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39352280 39352280 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:39352280T>C ENST00000289248.2 - 8 1816 c.808A>G c.(808-810)Aaa>Gaa p.K270E RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.K350E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.K270E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.K337E Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 270 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AGCAGTGCTTTATCAAAGCAG 0.418000 10 94 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65387893 65387893 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:65387893G>A ENST00000355703.3 + 9 2631 c.2092G>A c.(2092-2094)Gga>Aga p.G698R NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 698 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GACAGCTAATGGAGCCTGGTG 0.612000 14 29 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915112 176915112 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:176915112G>C ENST00000367654.2 - 13 2236 c.2223C>G c.(2221-2223)aaC>aaG p.N741K ASTN1_ENST00000367657.3_Missense_Mutation_p.N733K|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.N733K O14525 ASTN1_HUMAN astrotactin 1 741 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGAATGGTTGTTGTAACCAA 0.483000 51 164 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238051727 238051727 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:238051727C>A ENST00000366570.4 - 4 642 c.484G>T c.(484-486)Gga>Tga p.G162* RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 162 P-type. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACAGTCTCCTCGAGAGATG 0.507000 24 73 5.35356e-11 7.6364e-11 1 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212607 26212607 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:26212607C>A ENST00000379034.1 + 2 793 c.644C>A c.(643-645)tCc>tAc p.S215Y NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 215 MAGE. p.S215Y(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AAGAAAGAGTCCATTTTGAAG 0.468000 18 57 7.45023e-12 1.08107e-11 1 1 0 GHR 2690 broad.mit.edu 37 5 42718570 42718570 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:42718570G>C ENST00000230882.4 + 10 1151 c.961G>C c.(961-963)Gag>Cag p.E321Q GHR_ENST00000357703.3_Missense_Mutation_p.E299Q|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.E134Q NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 321 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAAATTAGAGGAGGTGAACAC 0.313000 54 172 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73768561 73768561 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:73768561C>A ENST00000334126.7 - 25 5206 c.4980G>T c.(4978-4980)tcG>tcT p.S1660S C2CD3_ENST00000313663.7_Silent_p.S1660S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1660 C2 2. centrosome p.S1660S(4) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AACTGGGTATCGATACTTTCC 0.448000 20 138 1.64113e-05 1.93557e-05 1 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378610 31378610 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:31378610C>T ENST00000297142.3 - 2 595 c.273G>A c.(271-273)agG>agA p.R91R NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 91 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 TGAACTTGACCCTTTCCAATC 0.493000 31 263 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126792830 126792830 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:126792830G>T ENST00000274473.6 + 26 3510 c.3243G>T c.(3241-3243)gtG>gtT p.V1081V MEGF10_ENST00000503335.2_Silent_p.V1081V NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1081 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AACCTACAGTGAGTGTTGTCC 0.398000 5 75 1.024e-07 1.33935e-07 1 1 0 TPTE 7179 broad.mit.edu 37 21 10970061 10970061 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr21:10970061G>T ENST00000298232.7 - 6 434 c.65_splice c.e6-1 p.P23_splice TPTE_ENST00000342420.5_Splice_Site_p.P23_splice|TPTE_ENST00000361285.4_Splice_Site_p.P23_splice|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 23 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTGTCTGTGGACTAGTGGAT 0.373000 19 152 5.03518e-11 7.22315e-11 1 1 0 CCDC30 728621 broad.mit.edu 37 1 43002166 43002166 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:43002166A>G ENST00000428554.2 + 9 1154 c.11A>G c.(10-12)gAa>gGa p.E4G CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E4G|CCDC30_ENST00000340612.4_Missense_Mutation_p.E4G Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 4 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ATGAGCCAAGAAAAAAATGAA 0.333000 10 62 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525180 248525180 + Missense_Mutation SNP C C T rs142091573 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:248525180C>T ENST00000366475.1 + 1 298 c.298C>T c.(298-300)Ctc>Ttc p.L100F NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAATTGTCTCTCATGGACAT 0.502000 23 323 0 0 1 0 0 CTH 1491 broad.mit.edu 37 1 70904452 70904452 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:70904452G>T ENST00000411986.2 + 10 1236 c.1038G>T c.(1036-1038)gtG>gtT p.V346V CTH_ENST00000370938.3_Silent_p.V378V|CTH_ENST00000346806.2_Silent_p.V334V NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 378 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GACTTTCTGTGGGCTTAGAGG 0.428000 30 89 1.62565e-12 2.38639e-12 1 1 0 VCP 7415 broad.mit.edu 37 9 35059077 35059077 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:35059077G>A ENST00000358901.6 - 15 3039 c.2144C>T c.(2143-2145)aCa>aTa p.T715I NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 715 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGATGGGTTTGTCTGCCTCTC 0.547000 13 99 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21224686 21224686 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:21224686C>T ENST00000233242.1 - 29 13735 c.13608G>A c.(13606-13608)acG>acA p.T4536T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4536 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.T4536T(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCAGTAACTCCGTGATGTATA 0.363000 7 127 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94847330 94847330 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:94847330C>T ENST00000448921.1 - 5 1367 c.795G>A c.(793-795)ctG>ctA p.L265L SERPINA1_ENST00000402629.1_Silent_p.L265L|SERPINA1_ENST00000393088.4_Silent_p.L265L|SERPINA1_ENST00000355814.4_Silent_p.L265L|SERPINA1_ENST00000437397.1_Silent_p.L265L|SERPINA1_ENST00000449399.3_Silent_p.L265L|SERPINA1_ENST00000440909.1_Silent_p.L265L|SERPINA1_ENST00000393087.4_Silent_p.L265L|SERPINA1_ENST00000404814.4_Silent_p.L265L NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 265 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGTATTTCATCAGCAGCACCC 0.512000 9 73 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48536592 48536592 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:48536592C>G ENST00000358350.4 - 49 7279 c.6675G>C c.(6673-6675)gaG>gaC p.E2225D FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2225D|FRYL_ENST00000503238.1_Missense_Mutation_p.E2225D|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2225 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCTTTATGATCTCCAGATTAA 0.333000 3 35 0 0 1 0 0 SLC39A9 55334 broad.mit.edu 37 14 69925101 69925101 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:69925101G>C ENST00000031146.4 + 6 1195 c.517G>C c.(517-519)Gag>Cag p.E173Q SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.E239Q|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E216Q Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 239 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) AGCCCTTTCAGAGGTGAACGC 0.468000 7 177 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132937864 132937864 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:132937864G>C ENST00000253861.4 + 1 36 c.7G>C c.(7-9)Gca>Cca p.A3P EXOC4_ENST00000393161.2_Missense_Mutation_p.A3P NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 3 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CAAGATGGCGGCAGAAGCAGC 0.577000 12 73 0 0 1 0 0 TCL1B 9623 broad.mit.edu 37 14 96152829 96152829 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:96152829C>A ENST00000340722.7 + 1 76 c.25C>A c.(25-27)Cta>Ata p.L9I RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 9 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TTCTGTGCGTCTAGGGGTGCC 0.602000 17 77 3.45872e-05 4.04141e-05 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113078056 113078056 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:113078056G>C ENST00000316851.7 + 5 672 c.672G>C c.(670-672)gtG>gtC p.V224V NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.V116V|NCAM1_ENST00000401611.2_Silent_p.V233V NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 234 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCACCCTGGTGTGCGATGCCG 0.537000 26 85 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41377671 41377671 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr15:41377671C>T ENST00000361937.3 - 7 1193 c.769G>A c.(769-771)Gat>Aat p.D257N INO80_ENST00000401393.3_Missense_Mutation_p.D257N Q9ULG1 INO80_HUMAN INO80 complex subunit 257 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGAGGTGCATCGTGAGAAAAC 0.458000 11 93 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161524799 161524799 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:161524799C>A ENST00000356592.3 + 4 943 c.483C>A c.(481-483)caC>caA p.H161Q GABRG2_ENST00000414552.2_Missense_Mutation_p.H161Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.H66Q|GABRG2_ENST00000361925.4_Missense_Mutation_p.H161Q NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 161 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) CTGATGCACACTGGATCACCA 0.428000 29 80 4.22769e-11 6.07631e-11 1 1 0 C12orf39 80763 broad.mit.edu 37 12 21680124 21680124 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:21680124C>T ENST00000256969.2 + 3 309 c.143C>T c.(142-144)gCa>gTa p.A48V NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN chromosome 12 open reading frame 39 48 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 CTGAAAGGGGCACGTAAGTTC 0.458000 37 60 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020721 32020721 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:32020721C>T ENST00000375244.3 - 26 9042 c.8841G>A c.(8839-8841)ccG>ccA p.P2947P TNXB_ENST00000375247.2_Silent_p.P2945P P22105 TENX_HUMAN tenascin XB 2992 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGGGGCTCCGGGGCCTCCG 0.657000 16 61 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118315520 118315520 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:118315520G>C ENST00000369221.2 + 9 848 c.820G>C c.(820-822)Gac>Cac p.D274H NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 274 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGGGACTCGAGACTTTGCGGC 0.393000 19 125 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912812 77912812 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chrX:77912812A>G ENST00000321110.1 - 2 1401 c.1106T>C c.(1105-1107)aTa>aCa p.I369T NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 369 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TTCATCTTGTATAGAACTGGC 0.488000 19 32 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11772454 11772454 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:11772454C>T ENST00000262442.3 + 51 10005 c.9937C>T c.(9937-9939)Ctt>Ttt p.L3313F DNAH9_ENST00000454412.2_Missense_Mutation_p.L3313F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3313 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TAAACAGCACCTTAATGAAAA 0.473000 23 72 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187558970 187558970 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:187558970C>G ENST00000304698.5 + 1 273 c.70C>G c.(70-72)Cgg>Ggg p.R24G AC017101.10_ENST00000453665.1_RNA NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 24 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GCTGAAAGCGCGGCTGGTCCC 0.662000 4 18 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616407 116616407 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:116616407G>T ENST00000395715.3 - 4 2366 c.1789C>A c.(1789-1791)Ccg>Acg p.P597T TRPS1_ENST00000519674.1_Missense_Mutation_p.P584T|TRPS1_ENST00000520276.1_Missense_Mutation_p.P588T|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584T|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 584 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAAGCAAACGGATAAGTAATT 0.468000 Langer-Giedion syndrome 7 44 2.7689e-08 3.67888e-08 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110737302 110737302 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:110737302C>T ENST00000331565.4 + 9 1886 c.1401C>T c.(1399-1401)atC>atT p.I467I SLC6A17_ENST00000465159.1_3'UTR NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 467 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TGATGCTTATCAACCTGGGCC 0.592000 10 50 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8007650 8007650 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:8007650A>G ENST00000344293.5 + 3 2383 c.2177A>G c.(2176-2178)gAg>gGg p.E726G NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 726 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 agagagaaagagaagagagag 0.383000 9 36 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106456569 106456569 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:106456569G>T ENST00000407775.2 + 3 511 c.261G>T c.(259-261)ccG>ccT p.P87P ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 87 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGAGAAACCGGGGCAACCTG 0.443000 7 20 0.000157383 0.000176531 1 1 0 MEOX2 4223 broad.mit.edu 37 7 15652023 15652023 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:15652023C>A ENST00000262041.5 - 3 1313 c.904G>T c.(904-906)Gcg>Tcg p.A302S NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 302 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CATAAGTGCGCATGCTCTGAG 0.478000 11 76 0.000978159 0.00105041 1 1 0 C2CD2L 9854 broad.mit.edu 37 11 118983228 118983228 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:118983228C>T ENST00000336702.3 + 9 1480 c.1121C>T c.(1120-1122)tCc>tTc p.S374F C2CD2L_ENST00000528586.1_Missense_Mutation_p.S122F NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 374 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 CCTGTGGGCTCCCCCTCCAGA 0.652000 10 169 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25591900 25591900 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:25591900G>T ENST00000269141.3 - 4 879 c.456C>A c.(454-456)ggC>ggA p.G152G CDH2_ENST00000399380.3_Silent_p.G121G NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 152 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTGTAGGTGGCCACTGTGCT 0.453000 10 100 0.000442599 0.000482836 1 1 0 TTN 7273 broad.mit.edu 37 2 179437771 179437771 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:179437771G>T ENST00000589042.1 - 326 73312 c.73088C>A c.(73087-73089)gCc>gAc p.A24363D TTN_ENST00000342175.6_Missense_Mutation_p.A15490D|TTN_ENST00000359218.5_Missense_Mutation_p.A15423D|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21795D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15298D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A22722D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22722 Fibronectin type-III 77. 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) CTCTGGCAGGGCAATCTCAAC 0.448000 4 27 0.00909568 0.00943256 1 1 0 DAB2IP 153090 broad.mit.edu 37 9 124536647 124536647 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:124536647A>T ENST00000408936.3 + 13 3258 c.3076A>T c.(3076-3078)Agg>Tgg p.R1026W DAB2IP_ENST00000309989.1_Missense_Mutation_p.R902W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R998W Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 1026 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCCCCCCCACAGGGATAGGCT 0.637000 4 24 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45645568 45645568 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr14:45645568G>T ENST00000267430.5 + 14 3696 c.3611G>T c.(3610-3612)cGt>cTt p.R1204L FANCM_ENST00000542564.2_Missense_Mutation_p.R1178L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1204 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTTAAATCTCGTGATCAGAGA 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 61 0.00010058 0.000114001 1 1 0 ATP1A3 478 broad.mit.edu 37 19 42471895 42471895 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:42471895C>A ENST00000545399.1 - 21 3032 c.2879G>T c.(2878-2880)gGg>gTg p.G960V ATP1A3_ENST00000543770.1_Missense_Mutation_p.G958V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G947V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G917V NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 947 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CTCAAACAGCCCGAAGATCAG 0.667000 17 27 1.45105e-14 2.22966e-14 1 1 0 HELZ 9931 broad.mit.edu 37 17 65103393 65103393 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:65103393C>A ENST00000358691.5 - 31 5299 c.5133G>T c.(5131-5133)caG>caT p.Q1711H HELZ_ENST00000580168.1_Missense_Mutation_p.Q1712H NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CAAAAGGGTTCTGCGGTGGCC 0.473000 35 218 3.90053e-15 6.04262e-15 1 1 0 NKIRAS2 28511 broad.mit.edu 37 17 40174504 40174504 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:40174504A>G ENST00000307641.5 + 3 803 c.182A>G c.(181-183)gAc>gGc p.D61G NKIRAS2_ENST00000393880.1_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.D59G|NKIRAS2_ENST00000479407.1_Intron|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.D61G NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 61 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CGTTTCTATGACACCCGGGGG 0.562000 5 29 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105158243 105158243 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:105158243G>C ENST00000369797.3 + 2 154 c.60G>C c.(58-60)gaG>gaC p.E20D NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 20 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACAAACCAGAGAAAGCTTTCC 0.418000 8 37 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212193585 212193585 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:212193585G>C ENST00000366994.3 - 3 354 c.250C>G c.(250-252)Ctt>Gtt p.L84V INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.L84V|INTS7_ENST00000366992.3_Missense_Mutation_p.L84V|INTS7_ENST00000440600.2_Intron NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 84 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GTAACTTTAAGAACACATAGC 0.294000 5 26 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50594820 50594820 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:50594820C>A ENST00000374139.2 - 4 329 c.319G>T c.(319-321)Gca>Tca p.A107S DRGX_ENST00000434016.1_Missense_Mutation_p.A112S C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 112 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GTCACCTCTGCCATGGGCTCC 0.607000 32 93 1.45844e-13 2.192e-13 1 1 0 CER1 9350 broad.mit.edu 37 9 14722195 14722195 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:14722195C>A ENST00000380911.3 - 1 520 c.476G>T c.(475-477)tGg>tTg p.W159L NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 159 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) GCAGGTCTCCCAATGTACTTC 0.527000 15 46 0.000422831 0.000463276 1 1 0 ADRA2A 150 broad.mit.edu 37 10 112838897 112838897 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr10:112838897G>A ENST00000280155.2 + 1 2108 c.1143G>A c.(1141-1143)caG>caA p.Q381Q NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 366 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) GCGGGCGGCAGAACCGCGAGA 0.731000 27 138 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13386728 13386728 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:13386728G>T ENST00000360228.5 - 24 3924 c.3925C>A c.(3925-3927)Cgt>Agt p.R1309S CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1310S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1310 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAGAGGTCACGGAAGTAGGCA 0.572000 12 21 1.05317e-09 1.44239e-09 1 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48594812 48594812 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:48594812C>A ENST00000323776.5 + 3 654 c.493_splice c.e3+1 p.S164_splice MYCBPAP_ENST00000436259.2_Splice_Site_p.S127_splice NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 127 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGGACTACTCCGGTACACCCA 0.517000 43 111 3.4345e-17 5.5127e-17 1 1 0 CORO6 84940 broad.mit.edu 37 17 27944550 27944550 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr17:27944550T>A ENST00000345068.5 - 6 934 c.721A>T c.(721-723)Atg>Ttg p.M241L CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.M241L|CORO6_ENST00000580212.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000456796.3_Intron|CORO6_ENST00000445145.2_Intron Q6QEF8 CORO6_HUMAN coronin 6 241 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 CGCTGGCTCATGCGGGTGAAG 0.697000 10 25 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172942530 172942530 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:172942530T>A ENST00000315796.4 + 7 1097 c.710T>A c.(709-711)aTa>aAa p.I237K METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 237 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TAAAGCCACATAACTCATCAG 0.303000 8 66 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106118662 106118662 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:106118662G>A ENST00000375936.3 + 1 71 c.25G>A c.(25-27)Gat>Aat p.D9N DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA NM_001161812.1|NM_172370.3 NP_001155284.1|NP_758958.3 P59103 DAOA_HUMAN D-amino acid oxidase activator 9 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) gatgggtgctgattctctcca 0.517000 16 52 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577060 232577060 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:232577060C>A ENST00000366630.1 - 13 3977 c.3619G>T c.(3619-3621)Gat>Tat p.D1207Y SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1207Y|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D281Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1207 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGGGGGAATCTTTGCAACTT 0.468000 106 413 1.65916e-42 2.99361e-42 1 1 0 CPO 130749 broad.mit.edu 37 2 207827201 207827201 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:207827201G>T ENST00000272852.3 + 7 686 c.640G>T c.(640-642)Gag>Tag p.E214* NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 214 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GTCTGAACCAGAGACTAAAGC 0.453000 38 111 9.73076e-26 1.67573e-25 1 1 0 TRIM55 84675 broad.mit.edu 37 8 67062624 67062624 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:67062624G>A ENST00000315962.4 + 7 1281 c.908G>A c.(907-909)gGc>gAc p.G303D TRIM55_ENST00000353317.5_Missense_Mutation_p.G303D|TRIM55_ENST00000276573.7_Missense_Mutation_p.G303D|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 303 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ATAGAACATGGCTATGAGAAC 0.368000 7 102 0 0 1 0 0 BIRC7 79444 broad.mit.edu 37 20 61867617 61867617 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:61867617G>T ENST00000217169.3 + 1 383 c.169G>T c.(169-171)Ggc>Tgc p.G57C BIRC7_ENST00000342412.6_Missense_Mutation_p.G57C NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 57 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) GCAGATCCTGGGCCAGCTGCG 0.701000 5 18 0.00116845 0.00124766 1 1 0 ZNF334 55713 broad.mit.edu 37 20 45129982 45129982 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr20:45129982G>A ENST00000457685.2 - 6 3205 c.1882C>T c.(1882-1884)Cgc>Tgc p.R628C ZNF334_ENST00000347606.4_Missense_Mutation_p.R666C|ZNF334_ENST00000593880.1_Missense_Mutation_p.R689C Q9HCZ1 ZN334_HUMAN zinc finger protein 334 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GATTTGTGGCGAAATGTTTTC 0.358000 21 99 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21783467 21783467 + Splice_Site SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:21783467T>A ENST00000382254.1 - 11 2479 c.1393_splice c.e11+1 p.S465_splice CDH12_ENST00000504376.2_Splice_Site_p.S465_splice|CDH12_ENST00000522262.1_Splice_Site_p.S425_splice|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 465 Cadherin 4. 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 CCATACTTACTAACTTTACTC 0.368000 HNSCC(59;0.17) 14 107 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042449 49042449 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr22:49042449C>A ENST00000358295.5 + 2 307 c.132C>A c.(130-132)gaC>gaA p.D44E FAM19A5_ENST00000402357.1_Missense_Mutation_p.D51E|FAM19A5_ENST00000473898.1_Intron NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 51 extracellular region|integral to membrane p.D44D(1)|p.D51D(1) large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) TGACCTTGGACCGGGACAGCA 0.677000 6 33 0.00116845 0.00124766 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99534187 99534187 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:99534187G>A ENST00000376460.1 - 24 2714 c.2634C>T c.(2632-2634)ctC>ctT p.L878L DOCK9_ENST00000442173.1_Silent_p.L878L|DOCK9_ENST00000339416.2_Silent_p.L879L|DOCK9_ENST00000448493.2_Silent_p.L890L NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 879 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGCTCTGGTGAGGACTCGGA 0.532000 4 7 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732605 152732605 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:152732605C>A ENST00000368773.1 + 2 599 c.541C>A c.(541-543)Cag>Aag p.Q181K KPRP_ENST00000606109.1_Missense_Mutation_p.Q181K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 181 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATTCTCCACCCAGTGCCAGTA 0.557000 46 139 3.05275e-18 4.93136e-18 1 1 0 EPG5 57724 broad.mit.edu 37 18 43531136 43531136 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:43531136T>G ENST00000282041.5 - 4 1355 c.1321A>C c.(1321-1323)Atg>Ctg p.M441L NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 441 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTGGTGAACATGAATAAGACA 0.383000 4 28 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205196 66205196 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:66205196G>T ENST00000503581.1 - 4 645 c.108C>A c.(106-108)ccC>ccA p.P36P EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000370621.3_Silent_p.P36P|EYS_ENST00000342421.5_Silent_p.P36P NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 36 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATATGATGAGGGTTGTGGAT 0.388000 31 131 4.02929e-09 5.47867e-09 1 1 0 ZFYVE16 9765 broad.mit.edu 37 5 79743953 79743953 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr5:79743953C>T ENST00000338008.5 + 7 3013 c.2833C>T c.(2833-2835)Cca>Tca p.P945S ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P945S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P945S NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 945 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TTCTCAGGTTCCATCAGTGGA 0.383000 9 51 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74680239 74680239 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr18:74680239G>T ENST00000253159.8 + 31 5680 c.5482G>T c.(5482-5484)Gag>Tag p.E1828* ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E1830* NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1828 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCTCCACCTGGAGGAGGTGGT 0.587000 17 78 1.15088e-07 1.48729e-07 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43626729 43626729 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr9:43626729T>A ENST00000332857.6 - 4 1986 c.1958A>T c.(1957-1959)cAg>cTg p.Q653L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCACCTTCTGTGCCTCCTT 0.557000 29 77 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139601675 139601675 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:139601675C>G ENST00000303045.6 - 65 5148 c.4702G>C c.(4702-4704)Ggg>Cgg p.G1568R COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1568 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGTTCCCCGGGTTGACCT 0.577000 HNSCC(7;0.00092) 8 12 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120629471 120629471 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:120629471G>A ENST00000427067.2 - 7 758 c.578C>T c.(577-579)aCa>aTa p.T193I ENPP2_ENST00000259486.6_Missense_Mutation_p.T197I|ENPP2_ENST00000522826.1_Missense_Mutation_p.T197I|ENPP2_ENST00000075322.6_Missense_Mutation_p.T197I Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 197 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGGAGAGTGTGTGCCACAAGA 0.378000 16 66 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996267 120996267 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr11:120996267G>A ENST00000392793.1 + 8 1731 c.1460G>A c.(1459-1461)gGa>gAa p.G487E TECTA_ENST00000264037.2_Missense_Mutation_p.G487E O75443 TECTA_HUMAN tectorin alpha 487 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGGATCTGGGAGAGAGCTGG 0.577000 7 179 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94502755 94502755 + Silent SNP C C A rs147884766 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:94502755C>A ENST00000370225.3 - 25 3845 c.3759G>T c.(3757-3759)acG>acT p.T1253T NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1253 T -> M (in FFM; could be a rare polymorphism). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGTCAGCCAGCGTCTCCTCCA 0.483000 22 104 6.44725e-10 8.89438e-10 1 1 0 RHBDD1 84236 broad.mit.edu 37 2 227729482 227729482 + Missense_Mutation SNP A A T rs147490611 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:227729482A>T ENST00000392062.2 + 4 597 c.73A>T c.(73-75)Aac>Tac p.N25Y RHBDD1_ENST00000341329.3_Missense_Mutation_p.N25Y NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 25 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TGTTGGGATCAACAATATTCC 0.458000 36 152 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558713 210558713 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:210558713G>A ENST00000360351.4 + 7 2325 c.1819G>A c.(1819-1821)Gat>Aat p.D607N MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D603N|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 607 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAGTCTATTGATACCATGTC 0.438000 18 67 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90874520 90874520 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:90874520A>C ENST00000394980.1 + 9 3957 c.3638A>C c.(3637-3639)aAg>aCg p.K1213T MMRN1_ENST00000394981.1_Missense_Mutation_p.K516T|MMRN1_ENST00000264790.2_Missense_Mutation_p.K1213T|MMRN1_ENST00000508372.1_Missense_Mutation_p.K955T Q13201 MMRN1_HUMAN multimerin 1 1213 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATTCCAGCCAAGTTTCCCCCT 0.363000 22 64 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72976888 72976888 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:72976888A>C ENST00000553530.1 + 14 1199 c.992A>C c.(991-993)aAa>aCa p.K331T RGS6_ENST00000434263.2_Missense_Mutation_p.K262T|RGS6_ENST00000407322.4_Missense_Mutation_p.K331T|RGS6_ENST00000556437.1_Missense_Mutation_p.K331T|RGS6_ENST00000554782.1_Missense_Mutation_p.K192T|RGS6_ENST00000404301.2_Missense_Mutation_p.K331T|RGS6_ENST00000406236.4_Missense_Mutation_p.K331T|RGS6_ENST00000553525.1_Missense_Mutation_p.K331T|RGS6_ENST00000355512.6_Missense_Mutation_p.K331T|RGS6_ENST00000343854.6_Missense_Mutation_p.K294T|RGS6_ENST00000555571.1_Missense_Mutation_p.K331T|RGS6_ENST00000402788.2_Missense_Mutation_p.K331T NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 331 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CAGCGAGTAAAAAGATGGGGC 0.468000 18 162 0 0 1 0 0 BPHL 670 broad.mit.edu 37 6 3127533 3127533 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:3127533C>A ENST00000380368.2 + 4 862 c.218C>A c.(217-219)aCg>aAg p.T73K BPHL_ENST00000380379.5_Missense_Mutation_p.T90K|BPHL_ENST00000380375.3_Missense_Mutation_p.T73K|BPHL_ENST00000434640.1_Missense_Mutation_p.T73K Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 90 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) AAGCTCTTCACGGTGGTCGCC 0.493000 8 82 0.000157383 0.000176761 1 1 0 BMS1 9790 broad.mit.edu 37 10 43326451 43326451 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:43326451G>C ENST00000374518.4 + 23 3819 c.3756G>C c.(3754-3756)aaG>aaC p.K1252N NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1252 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGCGGCAGAAGGACCTCAGGA 0.527000 4 16 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152757200 152757200 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:152757200C>A ENST00000367255.5 - 33 4787 c.4186G>T c.(4186-4188)Gct>Tct p.A1396S SYNE1_ENST00000423061.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A1396S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1403S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1396S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1386S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1462S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1396 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTTCTCAGCCTGGACTGCA 0.388000 HNSCC(10;0.0054) 8 67 0.00307968 0.00326752 1 1 0 CARD11 84433 broad.mit.edu 37 7 2984046 2984046 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:2984046C>T ENST00000396946.4 - 5 887 c.484G>A c.(484-486)Gag>Aag p.E162K AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 162 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCTTCTTCTCATCCTCCAGC 0.577000 Mis DLBCL 34 78 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65119459 65119459 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:65119459C>T ENST00000371073.2 + 11 1559 c.1559C>T c.(1558-1560)cCa>cTa p.P520L CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P469L Q5VU97 CAHD1_HUMAN cache domain containing 1 520 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CTTATGCACCCATCTCTTACC 0.338000 13 211 0 0 1 0 0 TLDC2 140711 broad.mit.edu 37 20 35515916 35515916 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:35515916T>C ENST00000217320.3 + 5 541 c.497T>C c.(496-498)aTg>aCg p.M166T TLDC2_ENST00000602922.1_Missense_Mutation_p.M166T NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 GATTCACTGATGATGGGCAGT 0.542000 OREG0025911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 111 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238725845 238725845 + Nonsense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:238725845C>T ENST00000316997.4 + 3 418 c.286C>T c.(286-288)Cag>Tag p.Q96* RBM44_ENST00000409864.1_Nonsense_Mutation_p.Q96*|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 95 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TACTCAGTTTCAGTCAAGTGA 0.318000 16 47 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971108 21971108 + Missense_Mutation SNP C C T rs11552822 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:21971108C>T ENST00000579755.1 - 2 585 c.293G>A c.(292-294)cGa>cAa p.R98Q CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 H -> P (in CMM2).|H -> Q (in CMM2). 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.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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) CGGGCAGCGTCGTGCACGGGT 0.741000 D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 5 16 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050182 42050182 + Missense_Mutation SNP G G T rs142189176 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:42050182G>T ENST00000372584.1 - 3 1301 c.287C>A c.(286-288)cCg>cAg p.P96Q HIVEP3_ENST00000429157.2_Missense_Mutation_p.P96Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P96Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P96Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 96 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGGTGCTGCGGAAGCTGTGA 0.587000 63 183 1.35869e-18 2.20132e-18 1 1 0 SPDYE3 441272 broad.mit.edu 37 7 99912179 99912179 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:99912179C>A ENST00000332397.6 + 6 1191 c.1007C>A c.(1006-1008)cCg>cAg p.P336Q SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 336 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCCAGCCCCCCGCGTAGGTCC 0.577000 38 76 1.03484e-13 1.55746e-13 1 1 0 CTNND2 1501 broad.mit.edu 37 5 11364993 11364993 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:11364993C>T ENST00000304623.8 - 8 1376 c.1187G>A c.(1186-1188)cGa>cAa p.R396Q CTNND2_ENST00000503622.1_Missense_Mutation_p.R59Q|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R305Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R396Q NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 396 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTATGAGGCTCGGGAACCAGC 0.488000 7 76 0 0 1 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022202 97022202 + Silent SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:97022202A>T ENST00000216277.8 + 18 1903 c.1683A>T c.(1681-1683)ccA>ccT p.P561P PAPOLA_ENST00000392990.2_Silent_p.P561P NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 561 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) GTCCTGCTCCAGCTGTAACAG 0.323000 8 97 0 0 1 0 0 MIR31HG 554202 broad.mit.edu 37 9 21455696 21455696 + RNA SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:21455696C>T ENST00000304425.3 - 0 689 NR_027054.1 CAGCCAGTTGCAGAAGGCCCA 0.502000 3 18 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52054022 52054022 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:52054022C>A ENST00000340057.1 + 3 445 c.400C>A c.(400-402)Cgg>Agg p.R134R NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 134 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CAACTCCTTCCGGCTGGAGAA 0.602000 11 65 6.40141e-05 7.34395e-05 1 1 0 PRKAG1 5571 broad.mit.edu 37 12 49398789 49398789 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:49398789T>A ENST00000548065.1 - 7 824 c.368A>T c.(367-369)cAg>cTg p.Q123L PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q132L|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q39L|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q91L|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q72L|RP11-386G11.5_ENST00000552284.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 123 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 AAAGGAGTCCTGGAGATACAC 0.463000 44 73 0 0 1 0 0 NLE1 54475 broad.mit.edu 37 17 33469093 33469093 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:33469093C>A ENST00000442241.4 - 2 106 c.67G>T c.(67-69)Gat>Tat p.D23Y NLE1_ENST00000360831.5_Missense_Mutation_p.D23Y|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 23 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) CCGCCCTCATCCTGGAACTGC 0.687000 7 20 0.00448238 0.00472894 1 1 0 ACE 1636 broad.mit.edu 37 17 61557855 61557855 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:61557855C>A ENST00000290866.4 + 5 837 c.813C>A c.(811-813)atC>atA p.I271I ACE_ENST00000538928.1_Silent_p.I271I|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Silent_p.I271I NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 271 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ACAGATACATCAACCTCAGGG 0.612000 22 96 0.000375601 0.000413161 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92730776 92730776 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:92730776G>C ENST00000379958.2 - 3 4904 c.4635C>G c.(4633-4635)atC>atG p.I1545M NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1545 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTTCATTGATTCCATATT 0.388000 19 73 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20370884 20370884 + Missense_Mutation SNP C C G rs148051428 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:20370884C>G ENST00000302451.4 - 12 1760 c.1512G>C c.(1510-1512)ttG>ttC p.L504F NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 504 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GCTCAACAGACAACAGCTATG 0.443000 13 84 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31359339 31359339 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:31359339C>A ENST00000542188.1 - 5 909 c.596G>T c.(595-597)aGa>aTa p.R199I TRPM1_ENST00000256552.6_Missense_Mutation_p.R182I|TRPM1_ENST00000397795.2_Missense_Mutation_p.R160I NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 160 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AACCCGGCCTCTGGACTTGGA 0.488000 14 89 2.62699e-14 4.00201e-14 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99753654 99753654 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:99753654C>A ENST00000370185.3 + 2 853 c.356C>A c.(355-357)gCa>gAa p.A119E LPPR4_ENST00000457765.1_Missense_Mutation_p.A119E NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 119 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACCCAGGAGGCAATTCCATTC 0.438000 32 97 8.16721e-17 1.29156e-16 1 1 0 SHOX2 6474 broad.mit.edu 37 3 157823778 157823778 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:157823778A>G ENST00000389589.4 - 1 171 c.36T>C c.(34-36)ttT>ttC p.F12F SHOX2_ENST00000483851.2_Silent_p.F12F|SHOX2_ENST00000554685.1_5'UTR|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Silent_p.F12F NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 12 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CTTTCTGGTCAAAAGACTTGG 0.627000 14 54 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188604 32188604 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:32188604T>C ENST00000375023.3 - 5 989 c.851A>G c.(850-852)cAg>cGg p.Q284R NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 284 EGF-like 7; calcium-binding (Potential). Q -> H (in dbSNP:rs520803). 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 ATTCTGACACTGGTGGCTGAC 0.557000 14 117 0 0 1 0 0 LOC349160 349160 broad.mit.edu 37 7 136848872 136848872 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:136848872G>T ENST00000439694.1 - 0 164 AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA GTCTACCTGAGGCTGTTGGTC 0.498000 6 25 0.0215528 0.0220842 1 1 0 FYB 2533 broad.mit.edu 37 5 39202342 39202342 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:39202342C>T ENST00000351578.6 - 2 911 c.721G>A c.(721-723)Gca>Aca p.A241T FYB_ENST00000540520.1_Missense_Mutation_p.A251T|FYB_ENST00000505428.1_Missense_Mutation_p.A241T|FYB_ENST00000515010.1_Missense_Mutation_p.A241T|FYB_ENST00000512982.1_Missense_Mutation_p.A241T NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 241 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TCTTCCCTTGCTGGTTTTAAA 0.522000 238 84 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35974241 35974241 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:35974241G>T ENST00000297866.5 + 8 1404 c.1338G>T c.(1336-1338)acG>acT p.T446T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 446 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTCCTGTGACGTACCACTTTA 0.353000 14 33 4.3838e-07 5.52034e-07 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48916967 48916967 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:48916967C>A ENST00000311378.4 + 2 846 c.318C>A c.(316-318)ccC>ccA p.P106P WFIKKN2_ENST00000426127.1_Silent_p.P13P NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 106 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGGGCATGCCCAAGGAGGCCA 0.587000 9 25 0.000274275 0.000302147 1 1 0 SRRM3 222183 broad.mit.edu 37 7 75894095 75894095 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:75894095C>T ENST00000388802.4 + 9 896 c.687C>T c.(685-687)tcC>tcT p.S229S SRRM3_ENST00000326382.8_Silent_p.S229S serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 CTCGAAGCTCCAAGTGCAAAA 0.572000 12 37 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 402006 402006 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:402006T>A ENST00000256509.2 + 12 1847 c.1205T>A c.(1204-1206)aTc>aAc p.I402N CHL1_ENST00000397491.2_Missense_Mutation_p.I386N NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 386 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.I402N(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CCCAGGGAAATCAGTTTTACC 0.388000 16 81 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777145 123777145 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:123777145G>T ENST00000321355.2 + 1 37 c.7G>T c.(7-9)Gta>Tta p.V3L NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AAGAATGGGTGTAAAAAACCA 0.378000 27 80 2.79863e-10 3.89828e-10 1 1 0 TBC1D9 23158 broad.mit.edu 37 4 141555266 141555266 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:141555266A>C ENST00000442267.2 - 16 2656 c.2582T>G c.(2581-2583)cTg>cGg p.L861R NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 861 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATACTGTTCCAGGTAGGGCAG 0.552000 12 46 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155851068 155851068 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:155851068G>C ENST00000368324.4 + 4 1318 c.1065G>C c.(1063-1065)ttG>ttC p.L355F SYT11_ENST00000539162.1_Missense_Mutation_p.L48F NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 355 C2 2. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) AGTGCACTTTGAACCCCATCT 0.483000 138 421 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640545 99640545 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:99640545G>A ENST00000547776.2 - 13 1853 c.1854C>T c.(1852-1854)tcC>tcT p.S618S ANKS1B_ENST00000547010.1_Silent_p.S198S|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.S618S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 618 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GATTTTCAGGGGACTCACAGG 0.468000 17 144 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31614183 31614183 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:31614183T>A ENST00000319386.3 + 7 1418 c.425T>A c.(424-426)aTa>aAa p.I142K CCDC129_ENST00000451887.2_Missense_Mutation_p.I168K|CCDC129_ENST00000409210.1_Missense_Mutation_p.I50K|CCDC129_ENST00000407970.3_Missense_Mutation_p.I142K|CCDC129_ENST00000482748.1_3'UTR Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 142 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TTTTGGGAGATAGATCCAGTG 0.448000 27 182 0 0 1 0 0 HARS2 23438 broad.mit.edu 37 5 140077256 140077256 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:140077256G>T ENST00000230771.3 + 11 1523 c.1300G>T c.(1300-1302)Gat>Tat p.D434Y HARS2_ENST00000435019.2_Missense_Mutation_p.D394Y|HARS2_ENST00000448069.2_Missense_Mutation_p.D262Y|HARS2_ENST00000508522.1_Missense_Mutation_p.D409Y|HARS2_ENST00000432671.2_Missense_Mutation_p.D320Y|HARS2_ENST00000437649.2_Missense_Mutation_p.D360Y NM_012208.2 NP_036340.1 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2, mitochondrial 434 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity p.D434N(1) NS(1)|endometrium(3)|large_intestine(5)|lung(10) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCTTTGGGATTCTGGAAT 0.473000 44 86 1.62263e-30 2.86256e-30 1 1 0 MYOF 26509 broad.mit.edu 37 10 95168668 95168668 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:95168668C>T ENST00000371501.4 - 7 727 c.605G>A c.(604-606)cGc>cAc p.R202H MYOF_ENST00000358334.5_Missense_Mutation_p.R202H|MYOF_ENST00000371489.1_Missense_Mutation_p.R202H|MYOF_ENST00000371502.4_Missense_Mutation_p.R202H|MYOF_ENST00000359263.4_Missense_Mutation_p.R202H Q9NZM1 MYOF_HUMAN myoferlin 202 C2 2.|Necessary for interaction with EHD2. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CACTCGGACGCGGATCTGCAG 0.507000 10 79 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977627 107977627 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:107977627C>A ENST00000372129.2 - 1 2024 c.1948G>T c.(1948-1950)Ggg>Tgg p.G650W NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 650 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AATCTTCCCCCAGACTTCCCT 0.498000 57 131 4.54978e-40 8.20057e-40 1 1 0 EFNA1 1942 broad.mit.edu 37 1 155106462 155106462 + Silent SNP C C A rs11545254 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:155106462C>A ENST00000368407.3 + 5 1055 c.537C>A c.(535-537)atC>atA p.I179I EFNA1_ENST00000368406.2_Silent_p.I157I|EFNA1_ENST00000469878.1_3'UTR NM_004428.2 NP_004419.2 P20827 EFNA1_HUMAN ephrin-A1 179 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1) 5 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) TACATAGCATCGGTCACAGTG 0.582000 7 18 0.0381472 0.0388219 1 1 0 RIF1 55183 broad.mit.edu 37 2 152320091 152320091 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:152320091G>C ENST00000243326.4 + 29 4540 c.4057G>C c.(4057-4059)Gac>Cac p.D1353H RIF1_ENST00000428287.2_Missense_Mutation_p.D1353H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1353H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1353H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1353H Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1353 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AATGGAGCATGACAATACAAA 0.343000 21 66 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681097 106681097 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:106681097T>C ENST00000526355.1 - 5 1782 c.1314A>G c.(1312-1314)ctA>ctG p.L438L GUCY1A2_ENST00000347596.2_Silent_p.L459L|GUCY1A2_ENST00000282249.2_Silent_p.L438L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 438 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.L438L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTGAGAGATGTAGCCCTCGGC 0.448000 21 88 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39597091 39597091 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:39597091A>G ENST00000246646.3 - 1 82 c.83T>C c.(82-84)aTc>aCc p.I28T NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 28 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CCCAATGTCGATGGGAGAGAC 0.602000 13 65 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141751666 141751666 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:141751666C>A ENST00000389484.3 - 16 3513 c.2542G>T c.(2542-2544)Gga>Tga p.G848* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 848 LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGAAACTCTCCAGCTTTACAT 0.418000 TSP Lung(27;0.18) 5 117 0.014758 0.0151843 1 1 0 DSC2 1824 broad.mit.edu 37 18 28648052 28648052 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:28648052C>G ENST00000280904.6 - 16 3078 c.2635G>C c.(2635-2637)Gat>Cat p.D879H DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 879 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCAAGCCCATCTTCTTCTTGT 0.428000 9 65 0 0 1 0 0 OR1L1 26737 broad.mit.edu 37 9 125424280 125424280 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:125424280G>T ENST00000373686.1 + 1 436 c.436G>T c.(436-438)Gag>Tag p.E146* Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CTCTTACAGTGAGTGTCTGAC 0.433000 38 232 3.93418e-24 6.70334e-24 1 1 0 CDCA7 83879 broad.mit.edu 37 2 174223566 174223566 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:174223566G>T ENST00000306721.3 + 2 250 c.e2+1 CDCA7_ENST00000347703.3_Splice_Site|CDCA7_ENST00000392567.2_Splice_Site|CDCA7_ENST00000410101.3_Splice_Site|CDCA7_ENST00000410019.3_Intron NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) TGCAAACACGGTAAGTGCTGC 0.403000 19 67 2.94398e-08 3.89752e-08 1 1 0 ADAM30 11085 broad.mit.edu 37 1 120437773 120437773 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:120437773C>T ENST00000369400.1 - 1 1345 c.1187G>A c.(1186-1188)gGt>gAt p.G396D NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 396 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAGCACATAACCTAGTCCTGG 0.418000 19 213 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12952352 12952352 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:12952352C>T ENST00000276297.4 - 12 3851 c.3442G>A c.(3442-3444)Gac>Aac p.D1148N DLC1_ENST00000358919.2_Missense_Mutation_p.D711N|DLC1_ENST00000512044.2_Missense_Mutation_p.D745N|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.D637N NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1148 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTCAGCATGTCTGCCACGTCA 0.473000 5 34 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86521071 86521071 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:86521071A>T ENST00000450689.2 - 21 3184 c.2999T>A c.(2998-3000)cTa>cAa p.L1000Q KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L833Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.L929Q|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L760Q NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 1000 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TTTTCCTAGTAGTGACTGTTT 0.378000 10 104 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106142289 106142289 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:106142289G>T ENST00000329625.5 + 4 386 c.108G>T c.(106-108)atG>atT p.M36I DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.M107I P59103 DAOA_HUMAN D-amino acid oxidase activator 107 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) aagtcttcatggcaagaaact 0.493000 11 34 1.58986e-06 1.92742e-06 1 1 0 PLCL1 5334 broad.mit.edu 37 2 198966032 198966032 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:198966032C>A ENST00000428675.1 + 4 3341 c.2943C>A c.(2941-2943)ctC>ctA p.L981L PLCL1_ENST00000437704.2_Silent_p.L883L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 981 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) GCCGGTTTCTCATAGAAATGG 0.358000 19 108 2.37509e-13 3.54605e-13 1 1 0 MAP3K19 80122 broad.mit.edu 37 2 135738894 135738894 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:135738894G>A ENST00000375845.3 - 9 3447 c.3417C>T c.(3415-3417)ttC>ttT p.F1139F MAP3K19_ENST00000392918.3_Silent_p.F273F|MAP3K19_ENST00000392917.3_Silent_p.F271F|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Silent_p.F1026F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.F321F NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CAAACTCCATGAAAATGCTCA 0.408000 13 154 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104317049 104317049 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:104317049A>T ENST00000389120.3 + 15 2183 c.2093A>T c.(2092-2094)gAg>gTg p.E698V NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 698 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) ATGGCTGATGAGGATGCCTTG 0.423000 6 37 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244574692 244574692 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:244574692G>A ENST00000366535.3 - 12 1531 c.1215C>T c.(1213-1215)ctC>ctT p.L405L NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 405 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) TCCATCCTGGGAGAGTCTTAT 0.343000 18 167 0 0 1 0 0 CHMP1A 5119 broad.mit.edu 37 16 89712461 89712461 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:89712461C>A ENST00000253475.5 - 6 716 c.584G>T c.(583-585)cGg>cTg p.R195L CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR NM_001083314.2 NP_001076783.1 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 0 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) CGGTGCACACCGGCGGGGCAC 0.692000 7 26 0.00448238 0.00472894 1 1 0 PKD1 5310 broad.mit.edu 37 16 2160655 2160655 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:2160655C>A ENST00000262304.4 - 15 4721 c.4513G>T c.(4513-4515)Ggt>Tgt p.G1505C PKD1_ENST00000423118.1_Missense_Mutation_p.G1505C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1505 PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCCACCCACCGTCCCCCAGA 0.662000 28 43 4.31634e-10 5.96787e-10 1 1 0 MDC1 9656 broad.mit.edu 37 6 30673394 30673394 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:30673394C>A ENST00000376406.3 - 10 4213 c.3566G>T c.(3565-3567)gGa>gTa p.G1189V MDC1_ENST00000376405.2_Missense_Mutation_p.G925V|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1189 Interaction with the PRKDC complex.|Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 ACTTTTTCTTCCCCTAGTAAC 0.572000 Other conserved DNA damage response genes 25 303 5.35356e-11 7.62755e-11 1 1 0 ALK 238 broad.mit.edu 37 2 29449807 29449807 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:29449807C>A ENST00000389048.3 - 18 3954 c.3048G>T c.(3046-3048)gaG>gaT p.E1016D ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1016 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGACGCCATCCTCAGCCAGCA 0.557000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 50 108 3.50607e-19 5.73859e-19 1 1 0 RGS1 5996 broad.mit.edu 37 1 192544947 192544947 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:192544947C>G ENST00000367459.3 + 1 91 c.25C>G c.(25-27)Cca>Gca p.P9A RGS1_ENST00000469578.2_Missense_Mutation_p.P9A NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 9 immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) CATCTCCACTCCAAAGTTAGA 0.443000 11 84 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27497332 27497332 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:27497332T>A ENST00000396271.3 - 10 1373 c.1247A>T c.(1246-1248)cAg>cTg p.Q416L ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.Q381L|ACBD5_ENST00000375888.1_Missense_Mutation_p.Q425L|ACBD5_ENST00000375897.3_Missense_Mutation_p.Q239L|ACBD5_ENST00000375901.1_Missense_Mutation_p.Q307L NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 425 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 ACTTCCCACCTGCCGGCCCTT 0.507000 29 56 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747560 121747560 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:121747560G>T ENST00000452319.1 + 14 4130 c.4070G>T c.(4069-4071)gGc>gTc p.G1357V GLI2_ENST00000361492.4_Missense_Mutation_p.G1357V|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1357 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1357V(2) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCCAAACAGGCCCGATGGGG 0.692000 10 10 0.000978159 0.00105275 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79300930 79300930 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:79300930A>T ENST00000264895.6 + 27 3783 c.3343A>T c.(3343-3345)Att>Ttt p.I1115F FRAS1_ENST00000325942.6_Missense_Mutation_p.I1115F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1114 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GATCCTCCCAATTGGTTCAAT 0.438000 11 45 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62131673 62131673 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:62131673G>T ENST00000433197.2 - 15 1985 c.1890C>A c.(1888-1890)tgC>tgA p.C630* NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 630 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CCTTCTCCGTGCAGAAGTAGC 0.493000 4 16 0.184627 0.18587 1 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125876333 125876333 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:125876333A>G ENST00000393434.2 - 4 730 c.381T>C c.(379-381)gaT>gaC p.D127D ALDH1L1_ENST00000393431.2_Silent_p.D127D|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Silent_p.D137D|ALDH1L1_ENST00000472186.1_Silent_p.D127D NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 127 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCCCTTTCTTATCTCCGTGAA 0.587000 6 75 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169993 32169993 + Silent SNP C C A rs61729678 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:32169993C>A ENST00000375023.3 - 21 3753 c.3615G>T c.(3613-3615)ctG>ctT p.L1205L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1205 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 CTGGGACTCCCAGAGAGCAGT 0.652000 18 71 3.32936e-07 4.20669e-07 1 1 0 ABTB2 25841 broad.mit.edu 37 11 34173997 34173997 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:34173997C>T ENST00000435224.2 - 17 3439 c.3015G>A c.(3013-3015)ctG>ctA p.L1005L ABTB2_ENST00000298992.2_Silent_p.L819L NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 819 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCAGGTCCTGCAGTGGATCCA 0.647000 4 4 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22748966 22748966 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:22748966G>T ENST00000511446.1 + 0 337 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAAAAATGGGGTTACTCCCAT 0.368000 11 137 1.58986e-06 1.92742e-06 1 1 0 SLC5A4 6527 broad.mit.edu 37 22 32614704 32614704 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr22:32614704C>A ENST00000266086.4 - 15 1788 c.1777G>T c.(1777-1779)Gag>Tag p.E593* RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 593 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CGTGATTTCTCAGGATAATCT 0.418000 28 42 2.79863e-10 3.89828e-10 1 1 0 MDC1 9656 broad.mit.edu 37 6 30679203 30679203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:30679203C>A ENST00000376406.3 - 7 2854 c.2207G>T c.(2206-2208)aGc>aTc p.S736I MDC1_ENST00000376405.2_Missense_Mutation_p.S736I|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 736 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGTCTGGAAGCTGCAATGGGA 0.502000 Other conserved DNA damage response genes 11 38 0.000978159 0.00105275 1 1 0 RAB39B 116442 broad.mit.edu 37 X 154490296 154490296 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:154490296T>C ENST00000369454.3 - 2 734 c.434A>G c.(433-435)tAc>tGc p.Y145C NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTTCATGCCGTATGCAGCAGC 0.498000 35 27 0 0 1 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926316 22926316 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:22926316C>A ENST00000261374.3 + 2 971 c.537C>A c.(535-537)ccC>ccA p.P179P NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 179 Substrate binding (By similarity). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) AGAAGACGCCCAGCTACTTTG 0.567000 35 55 1.08052e-11 1.56029e-11 1 1 0 SLC25A24 29957 broad.mit.edu 37 1 108728465 108728465 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:108728465C>A ENST00000565488.1 - 2 514 c.295G>T c.(295-297)Gac>Tac p.D99Y SLC25A24_ENST00000370041.4_Missense_Mutation_p.D80Y NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 99 EF-hand 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TTATTTTTGTCTAAACTCTTA 0.318000 4 24 0.00909568 0.0094494 1 1 0 PABPC1 26986 broad.mit.edu 37 8 101719186 101719186 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:101719186G>A ENST00000318607.5 - 10 2504 c.1376C>T c.(1375-1377)cCt>cTt p.P459L PABPC1_ENST00000522387.1_Missense_Mutation_p.P427L|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Missense_Mutation_p.P414L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 459 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TGGTGGTCTAGGAGCAGCTGG 0.413000 9 59 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670029 8670029 + Missense_Mutation SNP G G T rs141630862 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:8670029G>T ENST00000270328.4 - 3 569 c.303C>A c.(301-303)caC>caA p.H101Q ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.H101Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 101 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCACGGAGACGTGCCCTGCCA 0.697000 6 26 0.0215528 0.0220842 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108366923 108366923 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:108366923C>A ENST00000263054.6 - 23 3173 c.e23+1 SORCS1_ENST00000344440.6_Splice_Site|SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000478809.2_Splice_Site NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGGGGACTCACCTGCTCCAGG 0.498000 7 50 8.12818e-05 9.23994e-05 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113293524 113293524 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:113293524A>T ENST00000297405.5 - 59 9631 c.9387T>A c.(9385-9387)gaT>gaA p.D3129E CSMD3_ENST00000343508.3_Missense_Mutation_p.D3089E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2960E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3059E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3129 Sushi 23. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATGTTGTGCCATCAATTCGGA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179543515 179543515 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:179543515G>T ENST00000589042.1 - 143 34009 c.33785C>A c.(33784-33786)cCa>cAa p.P11262Q TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10945Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10018Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10945 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACTGGTACTGGTACTTTCTC 0.368000 15 71 4.14922e-12 6.03816e-12 1 1 0 LSP1 4046 broad.mit.edu 37 11 1908785 1908785 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:1908785G>T ENST00000406638.2 + 10 2128 c.826G>T c.(826-828)Gct>Tct p.A276S LSP1_ENST00000381775.1_Missense_Mutation_p.A466S|LSP1_ENST00000311604.3_Missense_Mutation_p.A338S|LSP1_ENST00000405957.2_Missense_Mutation_p.A276S|LSP1_ENST00000485341.1_3'UTR NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 338 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) AGGGGGCCCGGCTCCCTAGGC 0.592000 6 28 5.9392e-07 7.4042e-07 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768453 77768453 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:77768453C>A ENST00000521891.2 + 10 9744 c.9296C>A c.(9295-9297)cCc>cAc p.P3099H ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3054H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3054H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3073H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3054 Pro-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) ACAGCCTACCCCGGACTCCCC 0.542000 HNSCC(33;0.089) 5 96 0.0293803 0.0300225 1 1 0 TRAPPC11 60684 broad.mit.edu 37 4 184606247 184606247 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:184606247G>A ENST00000334690.6 + 16 1780 c.1578G>A c.(1576-1578)ctG>ctA p.L526L TRAPPC11_ENST00000512476.1_Silent_p.L132L|TRAPPC11_ENST00000357207.4_Silent_p.L526L NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 526 CTTCAACTCTGAAAGATGACC 0.294000 10 40 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15500789 15500789 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:15500789G>T ENST00000504595.1 + 1 485 c.4G>T c.(4-6)Ggc>Tgc p.G2C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 2 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CTACAGGATGGGCGCGAACAA 0.697000 27 195 1.55811e-20 2.62492e-20 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201009108 201009108 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:201009108C>G ENST00000362061.3 - 44 5699 c.5473G>C c.(5473-5475)Gtg>Ctg p.V1825L RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1806L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1825 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGATCTCCACTTCCTCTGGT 0.612000 38 140 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86378436 86378436 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:86378436G>C ENST00000410111.3 - 12 1772 c.1385C>G c.(1384-1386)gCt>gGt p.A462G IMMT_ENST00000449247.2_Missense_Mutation_p.A451G|IMMT_ENST00000409051.2_Missense_Mutation_p.A415G|IMMT_ENST00000254636.5_Missense_Mutation_p.A363G|IMMT_ENST00000442664.2_Missense_Mutation_p.A461G NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 462 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTCCTGTTCAGCCTGTATTTC 0.398000 3 43 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110280799 110280799 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:110280799C>T ENST00000540225.1 - 6 596 c.286G>A c.(286-288)Gaa>Aaa p.E96K GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.E96K|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Missense_Mutation_p.E96K P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 96 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) ATCTTTTCTTCTTCAGTCTCA 0.488000 7 50 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7262394 7262394 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:7262394G>T ENST00000361972.4 - 11 1399 c.1309C>A c.(1309-1311)Cta>Ata p.L437I SFMBT2_ENST00000397167.1_Missense_Mutation_p.L437I NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 437 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AGCCACATTAGCCGCCCCTTC 0.532000 41 228 1.59932e-28 2.80163e-28 1 1 0 PCDHB6 56130 broad.mit.edu 37 5 140530172 140530172 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:140530172C>A ENST00000231136.1 + 1 334 c.334C>A c.(334-336)Ccc>Acc p.P112T PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 112 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGGAAAACCCCTTGCAGTT 0.473000 11 58 3.86212e-05 4.45126e-05 1 1 0 LOC101929950 101929950 broad.mit.edu 37 17 36359023 36359023 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:36359023G>T ENST00000312412.4 - 6 667 c.668C>A c.(667-669)cCa>cAa p.P223Q RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.P68Q kidney(1)|lung(3) 4 ATCAGGGTATGGTTTCCGGTC 0.348000 23 349 1.22574e-08 1.6431e-08 1 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736090 140736090 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:140736090A>T ENST00000571252.1 + 1 1323 c.1323A>T c.(1321-1323)caA>caT p.Q441H PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCACTGCAAGTGATGGACA 0.458000 22 73 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 66997479 66997479 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:66997479C>G ENST00000303334.4 + 3 444 c.373C>G c.(373-375)Ctg>Gtg p.L125V CES3_ENST00000394037.1_Missense_Mutation_p.L125V NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 125 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) AGAGGACTGCCTGGTCCTCAA 0.592000 5 46 0 0 1 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794796 176794796 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:176794796C>G ENST00000272748.4 - 13 1433 c.1186G>C c.(1186-1188)Gag>Cag p.E396Q KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.E427Q NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 396 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TCCTCATTCTCAGTCTCTTGT 0.438000 21 91 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:7579485C>A ENST00000420246.2 - 4 334 c.202G>T c.(202-204)Gag>Tag p.E68* TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 68 Interaction with HRMT1L2.|Interaction with WWOX. E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAGCAGCCTCTGGCATTCTG 0.607000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 58 99 1.64573e-32 2.92401e-32 1 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455522 187455522 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:187455522C>A ENST00000307161.5 - 2 575 c.374G>T c.(373-375)cGc>cTc p.R125L RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 125 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GTAGCAGTAGCGGTTGATGGC 0.567000 10 28 2.17888e-05 2.55455e-05 1 1 0 BCHE 590 broad.mit.edu 37 3 165503972 165503972 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:165503972A>G ENST00000264381.3 - 3 1811 c.1645T>C c.(1645-1647)Ttc>Ctc p.F549L BCHE_ENST00000540653.1_Missense_Mutation_p.F11L NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 549 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GATGTCCAGAATCGACATTGT 0.358000 11 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179647564 179647564 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:179647564G>C ENST00000589042.1 - 18 3293 c.3069C>G c.(3067-3069)acC>acG p.T1023T TTN_ENST00000460472.2_Silent_p.T977T|TTN_ENST00000591111.1_Silent_p.T1023T|TTN_ENST00000342175.6_Silent_p.T977T|TTN_ENST00000342992.6_Silent_p.T1023T|TTN_ENST00000359218.5_Silent_p.T977T|TTN_ENST00000360870.5_Silent_p.T1023T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1023 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T1023T(3)|p.T977T(3) 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) ATGTGCTGACGGTTCCAGCCT 0.498000 8 52 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773086 7773086 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:7773086C>T ENST00000338316.4 + 18 2345 c.2256C>T c.(2254-2256)tcC>tcT p.S752S ADCY2_ENST00000537121.1_Silent_p.S572S NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 752 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.S752S(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TATCCTGTTCCGTGTTCCTGC 0.493000 23 234 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20893164 20893164 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:20893164G>T ENST00000381552.1 + 12 1963 c.1595G>T c.(1594-1596)gGa>gTa p.G532V SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G532V|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G532V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G414V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G483V Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 532 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TCTAAATCCGGAAATTCCTCA 0.353000 32 86 1.99505e-19 3.287e-19 1 1 0 TMCC2 9911 broad.mit.edu 37 1 205210770 205210770 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:205210770C>A ENST00000358024.3 + 2 734 c.345C>A c.(343-345)tcC>tcA p.S115S TMCC2_ENST00000545499.1_Silent_p.S37S|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 115 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) AGGGTATGTCCGACCATGACT 0.637000 14 35 0.000151284 0.000170938 1 1 0 DGKB 1607 broad.mit.edu 37 7 14613946 14613946 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:14613946G>T ENST00000403951.2 - 20 2083 c.1664C>A c.(1663-1665)aCa>aAa p.T555K DGKB_ENST00000444700.2_Missense_Mutation_p.T536K|DGKB_ENST00000407950.1_Missense_Mutation_p.T547K|DGKB_ENST00000406247.3_Missense_Mutation_p.T555K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.T555K|DGKB_ENST00000399322.3_Missense_Mutation_p.T555K|DGKB_ENST00000402815.1_Missense_Mutation_p.T554K Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 555 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CATGATTTCTGTGCTGTTTTC 0.348000 46 117 1.5731e-28 2.76216e-28 1 1 0 PAPPA 5069 broad.mit.edu 37 9 118950203 118950203 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:118950203G>T ENST00000328252.3 + 2 1555 c.1186G>T c.(1186-1188)Gac>Tac p.D396Y NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 396 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGGGAGCTGGACGTGCTGGA 0.577000 17 42 3.99206e-14 6.04465e-14 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181741334 181741334 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:181741334C>A ENST00000526775.1 + 36 5214 c.5049C>A c.(5047-5049)taC>taA p.Y1683* CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Y1683*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Y1702*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Y1653*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Y1634*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Y1309* NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1702 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCTACGTGTACTTTGTCTCCT 0.547000 36 134 4.62619e-21 7.81126e-21 1 1 0 THSD7B 80731 broad.mit.edu 37 2 138169421 138169421 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:138169421C>A ENST00000409968.1 + 14 3116 c.2938C>A c.(2938-2940)Ccc>Acc p.P980T THSD7B_ENST00000272643.3_Missense_Mutation_p.P980T|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P949T thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACCTGTTGACCCCTCCTTCTG 0.498000 6 46 0.248553 0.249219 1 1 0 MUC2 4583 broad.mit.edu 37 11 1090835 1090835 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:1090835G>T ENST00000441003.2 + 28 3757 c.3730G>T c.(3730-3732)Ggc>Tgc p.G1244C MUC2_ENST00000359061.5_Missense_Mutation_p.G1245C NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1244 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGAGATCTGTGGCCCCAACGG 0.577000 12 28 7.03913e-09 9.4699e-09 1 1 0 PSG11 5680 broad.mit.edu 37 19 43523194 43523194 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:43523194G>A ENST00000401740.1 - 3 540 c.437C>T c.(436-438)aCt>aTt p.T146I PSG11_ENST00000306322.7_Missense_Mutation_p.T24I|PSG11_ENST00000320078.7_Missense_Mutation_p.T146I|PSG11_ENST00000403486.1_Missense_Mutation_p.T24I|PSG11_ENST00000595312.1_5'UTR Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 146 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GGGCTTGGGAGTCTCCACTGT 0.507000 81 185 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004718 102004718 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:102004718C>T ENST00000372735.1 + 4 1380 c.795C>T c.(793-795)tgC>tgT p.C265C BHLHB9_ENST00000447531.1_Silent_p.C265C|BHLHB9_ENST00000361229.4_Silent_p.C265C|BHLHB9_ENST00000457056.1_Silent_p.C265C|BHLHB9_ENST00000448867.1_Silent_p.C265C Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 265 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAACAGCTTGCCGCCCTTCTA 0.502000 15 35 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119549368 119549368 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:119549368T>A ENST00000264025.3 - 2 717 c.187A>T c.(187-189)Acc>Tcc p.T63S PVRL1_ENST00000341398.2_Missense_Mutation_p.T63S|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.T63S NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 63 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GTGACCTGGGTGATCTTCACG 0.597000 9 38 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544203 82544203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:82544203C>A ENST00000423517.2 - 7 13436 c.13099G>T c.(13099-13101)Gtt>Ttt p.V4367F PCLO_ENST00000437081.1_Missense_Mutation_p.V1087F|PCLO_ENST00000333891.8_Missense_Mutation_p.V4367F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4298 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTGGCCAACAGGACTGAGT 0.517000 9 48 3.09899e-07 3.92888e-07 1 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530395 80530395 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:80530395A>C ENST00000295057.3 - 2 1206 c.550T>G c.(550-552)Tgc>Ggc p.C184G LRRTM1_ENST00000409148.1_Missense_Mutation_p.C184G|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 184 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 AGGCTGCGGCAGTCCTGGAAG 0.612000 HNSCC(69;0.2) 10 60 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124404249 124404249 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:124404249G>C ENST00000303921.2 - 1 1432 c.782C>G c.(781-783)gCc>gGc p.A261G NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 261 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GACCGCGTAGGCTCCATAGGA 0.607000 9 47 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246487 56246487 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:56246487C>A ENST00000361673.3 - 4 1734 c.1521G>T c.(1519-1521)ggG>ggT p.G507G NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 507 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ACTGGCTCATCCCTGAGTTTT 0.512000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 152 5.49717e-05 6.32597e-05 1 1 0 PDHA2 5161 broad.mit.edu 37 4 96761473 96761473 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:96761473G>T ENST00000295266.4 + 1 235 c.172G>T c.(172-174)Gag>Tag p.E58* NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 58 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CACTAGGGCGGAGGGGCTTAA 0.458000 7 49 2.0095e-06 2.42828e-06 1 1 0 EDN3 1908 broad.mit.edu 37 20 57876558 57876558 + Missense_Mutation SNP C C A rs148646322 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:57876558C>A ENST00000311585.7 + 2 516 c.146C>A c.(145-147)aCt>aAt p.T49N EDN3_ENST00000371028.2_Missense_Mutation_p.T49N|EDN3_ENST00000395654.3_Missense_Mutation_p.T49N|EDN3_ENST00000371025.3_Missense_Mutation_p.T49N|EDN3_ENST00000337938.2_Missense_Mutation_p.T49N NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 49 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) TGTGAAGAGACTGTGGCTGGC 0.682000 8 40 1.58986e-06 1.92742e-06 1 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156651382 156651382 + Nonstop_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:156651382A>T ENST00000296518.7 + 10 2281 c.2072A>T c.(2071-2073)tAg>tTg p.*691L GUCY1A3_ENST00000506455.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000393832.3_Nonstop_Mutation_p.*433L|GUCY1A3_ENST00000455639.2_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000511108.1_Nonstop_Mutation_p.*691L|GUCY1A3_ENST00000513574.1_Nonstop_Mutation_p.*691L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 0 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GGAATAGATTAGCAACCTATA 0.388000 7 45 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154386 2154386 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:2154386C>A ENST00000416167.2 - 4 1540 c.374G>T c.(373-375)cGc>cTc p.R125L IGF2_ENST00000381392.1_Missense_Mutation_p.R128L|IGF2_ENST00000381389.1_Missense_Mutation_p.R125L|IGF2_ENST00000381395.1_Missense_Mutation_p.R125L|IGF2_ENST00000434045.2_Missense_Mutation_p.R181L|IGF2_ENST00000300632.5_Missense_Mutation_p.R125L|IGF2_ENST00000381406.4_Missense_Mutation_p.R128L|IGF2_ENST00000337883.6_Missense_Mutation_p.R125L|IGF2_ENST00000418738.2_Missense_Mutation_p.R125L P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 125 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCTGCGCAGGCGCTGGGTGGA 0.667000 6 16 0.00116845 0.00125035 1 1 0 TYR 7299 broad.mit.edu 37 11 88911891 88911891 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:88911891C>A ENST00000263321.5 + 1 1272 c.770C>A c.(769-771)cCc>cAc p.P257H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 257 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GGTCAGCACCCCACAAATCCT 0.453000 32 90 9.65021e-13 1.42094e-12 1 1 0 ACSL5 51703 broad.mit.edu 37 10 114164554 114164554 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:114164554A>G ENST00000393081.1 + 5 729 c.422A>G c.(421-423)aAt>aGt p.N141S ACSL5_ENST00000354655.4_Missense_Mutation_p.N141S|ACSL5_ENST00000433418.1_Missense_Mutation_p.N141S|ACSL5_ENST00000356116.1_Missense_Mutation_p.N197S|ACSL5_ENST00000354273.4_Missense_Mutation_p.N141S|ACSL5_ENST00000479936.1_3'UTR NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 141 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TTTGCTCAGAATAGGCCAGAG 0.408000 28 136 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137154319 137154319 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:137154319G>C ENST00000453654.1 - 25 2113 c.1574C>G c.(1573-1575)tCt>tGt p.S525C DGKI_ENST00000446122.1_Missense_Mutation_p.S807C|DGKI_ENST00000288490.5_Missense_Mutation_p.S825C|DGKI_ENST00000424189.2_Missense_Mutation_p.S828C O75912 DGKI_HUMAN diacylglycerol kinase, iota 825 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCACCGAGGAGAGAGCCTCTG 0.527000 10 47 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45535891 45535891 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:45535891G>A ENST00000361462.2 + 17 4853 c.4670G>A c.(4669-4671)cGt>cAt p.R1557H FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1504H Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1504 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AAAGACTTTCGTGATCGTATT 0.358000 6 82 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25820019 25820019 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:25820019A>G ENST00000244527.4 - 4 447 c.332T>C c.(331-333)aTt>aCt p.I111T SLC17A1_ENST00000476801.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000427328.1_Missense_Mutation_p.I111T|SLC17A1_ENST00000468082.1_Missense_Mutation_p.I111T NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 111 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 TGCAAAGCCAATCATTTTCTT 0.453000 13 80 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10409131 10409131 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:10409131C>A ENST00000226207.5 - 19 2266 c.2172G>T c.(2170-2172)caG>caT p.Q724H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 724 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGTCTGACCTCTGTTTGAAGT 0.383000 15 36 2.4624e-09 3.34886e-09 1 1 0 EPHB1 2047 broad.mit.edu 37 3 134825299 134825299 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:134825299C>A ENST00000398015.3 + 4 1185 c.815C>A c.(814-816)gCa>gAa p.A272E EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 272 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GCTTGCCCTGCAGGGACATTC 0.557000 15 32 1.5739e-10 2.21709e-10 1 1 0 ROPN1L 83853 broad.mit.edu 37 5 10461347 10461347 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:10461347G>T ENST00000503804.1 + 5 990 c.469G>T c.(469-471)Gag>Tag p.E157* ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Nonsense_Mutation_p.E157* Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 157 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GGACGATCCGGAGGGCGGGCC 0.567000 73 90 2.51111e-31 4.45096e-31 1 1 0 CD300LG 146894 broad.mit.edu 37 17 41926217 41926217 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:41926217G>A ENST00000317310.4 + 2 376 c.335G>A c.(334-336)cGg>cAg p.R112Q CD300LG_ENST00000586233.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R112Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R112Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R112Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.R112Q NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 112 Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GTCGAAAAACGGGGCCCCGAT 0.582000 17 72 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81635091 81635091 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:81635091G>T ENST00000356860.3 - 17 1843 c.1505C>A c.(1504-1506)cCa>cAa p.P502Q CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P502Q|CACNA2D1_ENST00000464354.1_5'UTR NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 502 Cache. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGTAAAACGTGGTGTCAGTCT 0.348000 11 51 4.68919e-08 6.18609e-08 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690524 77690524 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:77690524C>A ENST00000521891.2 + 4 3622 c.3174C>A c.(3172-3174)gtC>gtA p.V1058V ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.V1032V|ZFHX4_ENST00000050961.6_Silent_p.V1032V|ZFHX4_ENST00000518282.1_Silent_p.V1032V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1032 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) CCACCAAGGTCAAGTTGAATC 0.542000 HNSCC(33;0.089) 42 117 5.59293e-11 7.95344e-11 1 1 0 ZBTB25 7597 broad.mit.edu 37 14 64957115 64957115 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:64957115G>C ENST00000394715.1 - 5 838 c.137C>G c.(136-138)tCt>tGt p.S46C ZBTB25_ENST00000261683.2_Missense_Mutation_p.S46C|ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46C|ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46C P24278 ZBT25_HUMAN zinc finger and BTB domain containing 25 46 BTB. cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 10 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) GAAATAGTTAGAAAAAGCAGC 0.328000 13 72 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95650954 95650954 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:95650954C>T ENST00000436874.1 + 3 302 c.197C>T c.(196-198)aCc>aTc p.T66I VEZT_ENST00000261219.6_Missense_Mutation_p.T18I|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 66 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 GTGGCTGAAACCATCAAAAGT 0.348000 5 11 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455353 29455353 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:29455353C>G ENST00000377127.3 - 1 385 c.327G>C c.(325-327)atG>atC p.M109I NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 109 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGATGTATACCATGTAGGGAT 0.527000 8 52 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162459336 162459336 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:162459336C>T ENST00000306100.5 - 10 1730 c.1294G>A c.(1294-1296)Gac>Aac p.D432N FSTL5_ENST00000427802.2_Missense_Mutation_p.D431N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D431N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D431N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 432 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTAGCAGAGTCTTCCACAAAA 0.403000 21 191 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66276549 66276549 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:66276549G>T ENST00000532677.1 + 18 2499 c.e18-1 DPP3_ENST00000360510.2_Splice_Site|DPP3_ENST00000541961.1_Splice_Site|DPP3_ENST00000453114.1_Splice_Site|DPP3_ENST00000531863.1_Splice_Site|CTD-3074O7.11_ENST00000419755.3_Intron|DPP3_ENST00000530165.1_Splice_Site NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CTCCTCCCCAGGCTCAGACGT 0.493000 13 120 9.16793e-09 1.23117e-08 1 1 0 FLG2 388698 broad.mit.edu 37 1 152325946 152325946 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:152325946C>A ENST00000388718.5 - 3 4388 c.4316G>T c.(4315-4317)aGa>aTa p.R1439I FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1439 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGATTGTGGTCTGTGTGAGCC 0.527000 158 397 3.59047e-61 6.55043e-61 1 1 0 TSIX 9383 broad.mit.edu 37 X 73041025 73041025 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:73041025G>T ENST00000604411.1 + 0 28986 XIST_ENST00000429829.1_lincRNA NR_003255.2 AAAATGTACAGAATGAAAACT 0.368000 3 14 0.115264 0.11651 1 1 0 LYST 1130 broad.mit.edu 37 1 235883977 235883977 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:235883977C>G ENST00000389794.3 - 40 9718 c.9544G>C c.(9544-9546)Gat>Cat p.D3182H LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3182H Q99698 LYST_HUMAN lysosomal trafficking regulator 3182 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATCAACAGATCATTGAGGTCA 0.348000 12 124 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48250146 48250146 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:48250146T>C ENST00000394747.1 - 6 1179 c.830A>G c.(829-831)tAt>tGt p.Y277C ABCC11_ENST00000394748.1_Missense_Mutation_p.Y277C|ABCC11_ENST00000353782.5_Missense_Mutation_p.Y277C|ABCC11_ENST00000356608.2_Missense_Mutation_p.Y277C|ABCC11_ENST00000537808.1_Missense_Mutation_p.Y277C NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 277 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TAGGGGTCCATAGCACACCCC 0.478000 22 134 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88853926 88853926 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:88853926C>A ENST00000537554.1 - 2 4630 c.1068G>T c.(1066-1068)tgG>tgT p.W356C CNR1_ENST00000549890.1_Missense_Mutation_p.W356C|CNR1_ENST00000369499.2_Missense_Mutation_p.W356C|CNR1_ENST00000549716.1_Missense_Mutation_p.W295C|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.W356C|CNR1_ENST00000369501.2_Missense_Mutation_p.W356C|CNR1_ENST00000468898.1_Missense_Mutation_p.W323C|CNR1_ENST00000535130.1_Missense_Mutation_p.W356C NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 356 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GCAGAGGGCCCCAGCAGATGA 0.522000 9 98 1.12685e-05 1.33579e-05 1 1 0 CNTN4 152330 broad.mit.edu 37 3 2778005 2778005 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:2778005A>G ENST00000397461.1 + 4 546 c.162A>G c.(160-162)ggA>ggG p.G54G CNTN4_ENST00000418658.1_Silent_p.G54G|CNTN4_ENST00000427331.1_Silent_p.G54G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 54 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGTTAAAGGAAATCCAAAAC 0.353000 9 84 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87635137 87635137 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:87635137T>A ENST00000376214.1 + 20 3127 c.2189T>A c.(2188-2190)aTg>aAg p.M730K NTRK2_ENST00000323115.4_Missense_Mutation_p.M714K|NTRK2_ENST00000376213.1_Missense_Mutation_p.M714K|NTRK2_ENST00000277120.3_Missense_Mutation_p.M730K NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 714 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GGCCACACAATGCTGCCCATT 0.572000 TSP Lung(25;0.17) 29 77 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113524823 113524823 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:113524823C>A ENST00000505019.1 - 10 2958 c.2833G>T c.(2833-2835)Gga>Tga p.G945* C4orf21_ENST00000309071.5_Nonsense_Mutation_p.G945* NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 945 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GTAGCTGATCCTTTTACTTGA 0.368000 11 58 5.16669e-11 7.38945e-11 1 1 0 LRP4 4038 broad.mit.edu 37 11 46918425 46918425 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:46918425T>C ENST00000378623.1 - 8 1159 c.917A>G c.(916-918)aAt>aGt p.N306S NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 306 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ACCACCTGTATTCTCACAGTT 0.567000 10 98 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151236486 151236486 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:151236486G>T ENST00000368884.3 + 3 344 c.264G>T c.(262-264)acG>acT p.T88T PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Silent_p.T88T NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 88 VWFA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTTCTGCACGGGCATCCGCG 0.572000 3 12 0.00024832 0.000276816 1 1 0 SDCCAG8 10806 broad.mit.edu 37 1 243652359 243652359 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:243652359C>G ENST00000366541.3 + 17 2147 c.2029C>G c.(2029-2031)Ctg>Gtg p.L677V SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L532V|AKT3_ENST00000336199.5_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L634V NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 677 Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGCCCAGCAGCTGGTGCAGCT 0.587000 4 41 0 0 1 0 0 R3HDML 140902 broad.mit.edu 37 20 42972100 42972100 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:42972100C>A ENST00000217043.2 + 3 636 c.464C>A c.(463-465)cCa>cAa p.P155Q NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 155 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GACTGTAACCCACACTGCCCC 0.622000 17 56 4.63292e-17 7.40476e-17 1 1 0 CD1D 912 broad.mit.edu 37 1 158151905 158151905 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:158151905G>T ENST00000368171.3 + 4 911 c.412G>T c.(412-414)Gga>Tga p.G138* NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 138 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGCATTTCAAGGAAAAGATAT 0.512000 66 248 3.57465e-26 6.21822e-26 1 1 0 SKI 6497 broad.mit.edu 37 1 2160515 2160515 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:2160515G>C ENST00000378536.4 + 1 382 c.310G>C c.(310-312)Gta>Cta p.V104L NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 104 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CTGCGAGACCGTACTGGAAGG 0.692000 5 10 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584589 138584589 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:138584589G>T ENST00000251691.4 + 12 2135 c.1969G>T c.(1969-1971)Gcc>Tcc p.A657S NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 657 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GCGAACTGCCGCCCTGTCTCT 0.607000 10 77 1.76689e-08 2.34749e-08 1 1 0 OR5B17 219965 broad.mit.edu 37 11 58126193 58126193 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:58126193G>T ENST00000357377.3 - 1 349 c.350C>A c.(349-351)gCc>gAc p.A117D NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCGGTCATAGGCCATTGAGGA 0.473000 10 90 7.48243e-07 9.22052e-07 1 1 0 IL32 9235 broad.mit.edu 37 16 3119310 3119310 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:3119310A>T ENST00000525643.2 + 7 853 c.521A>T c.(520-522)gAg>gTg p.E174V IL32_ENST00000325568.5_Missense_Mutation_p.E174V|IL32_ENST00000396887.3_Missense_Mutation_p.E117V|IL32_ENST00000530890.1_Missense_Mutation_p.E154V|IL32_ENST00000529550.1_Missense_Mutation_p.E174V|IL32_ENST00000552936.1_Missense_Mutation_p.E198V|IL32_ENST00000444393.3_Missense_Mutation_p.E174V|IL32_ENST00000551513.1_Missense_Mutation_p.E211V|IL32_ENST00000548652.1_Missense_Mutation_p.E165V|IL32_ENST00000548476.1_Missense_Mutation_p.E220V|IL32_ENST00000529699.1_Missense_Mutation_p.E154V|IL32_ENST00000008180.9_Missense_Mutation_p.E154V|IL32_ENST00000531965.1_Missense_Mutation_p.E164V|IL32_ENST00000534507.1_Missense_Mutation_p.E220V|IL32_ENST00000382213.3_Missense_Mutation_p.E165V|IL32_ENST00000440815.3_Missense_Mutation_p.E174V|IL32_ENST00000533097.2_Missense_Mutation_p.E174V|IL32_ENST00000548246.1_Missense_Mutation_p.E134V|IL32_ENST00000528163.2_Missense_Mutation_p.E174V|IL32_ENST00000552664.1_Missense_Mutation_p.E174V|IL32_ENST00000526464.2_Missense_Mutation_p.E174V|IL32_ENST00000552356.1_Missense_Mutation_p.E154V|IL32_ENST00000551122.1_Missense_Mutation_p.E117V|IL32_ENST00000396890.2_Missense_Mutation_p.E220V|IL32_ENST00000549213.1_Missense_Mutation_p.E117V|IL32_ENST00000530538.2_Missense_Mutation_p.E174V P24001 IL32_HUMAN interleukin 32 220 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 GGGGACAAGGAGGAGCTGACA 0.582000 11 169 0 0 1 0 0 FBP1 2203 broad.mit.edu 37 9 97365818 97365818 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:97365818C>A ENST00000415431.1 - 8 1091 c.862G>T c.(862-864)Gtc>Ttc p.V288F FBP1_ENST00000375326.4_Missense_Mutation_p.V288F NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 288 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TTCTCCATGACGTAGGCCATG 0.542000 OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 40 1.3612e-06 1.66642e-06 1 1 0 CDH2 1000 broad.mit.edu 37 18 25591899 25591899 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:25591899G>A ENST00000269141.3 - 4 880 c.457C>T c.(457-459)Cac>Tac p.H153Y CDH2_ENST00000399380.3_Missense_Mutation_p.H122Y NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 153 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTGTAGGTGGCCACTGTGC 0.453000 11 102 0 0 1 0 0 OSER1 51526 broad.mit.edu 37 20 42825709 42825709 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:42825709C>G ENST00000372970.2 - 6 1042 c.862G>C c.(862-864)Gaa>Caa p.E288Q OSER1_ENST00000255174.2_Missense_Mutation_p.E288Q oxidative stress responsive serine-rich 1 TACATCATTTCTGCCATGTGG 0.418000 27 87 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346640 11346640 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:11346640T>C ENST00000304623.8 - 9 1661 c.1472A>G c.(1471-1473)tAt>tGt p.Y491C CTNND2_ENST00000503622.1_Missense_Mutation_p.Y154C|CTNND2_ENST00000458100.2_Missense_Mutation_p.Y58C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.Y400C|CTNND2_ENST00000359640.2_Missense_Mutation_p.Y491C NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 491 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GCCGGCGGCATAGCTGGCCCT 0.657000 7 115 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46406966 46406966 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:46406966G>T ENST00000433765.2 - 1 1141 c.1142C>A c.(1141-1143)gCt>gAt p.A381D NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 381 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CTGGTTGCGAGCGATGCTGGC 0.622000 9 121 0.0581538 0.0590217 1 1 0 SLC33A1 9197 broad.mit.edu 37 3 155571625 155571625 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:155571625C>A ENST00000392845.2 - 1 542 c.162G>T c.(160-162)ggG>ggT p.G54G SLC33A1_ENST00000359479.3_Silent_p.G54G NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 54 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCCGGTATCCCCCAGAAGAG 0.557000 23 49 2.52088e-20 4.22784e-20 1 1 0 EMILIN2 84034 broad.mit.edu 37 18 2891640 2891640 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:2891640C>A ENST00000254528.3 + 4 1674 c.1515C>A c.(1513-1515)ctC>ctA p.L505L NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 505 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GGAGCGTTCTCCTACAGATGA 0.547000 10 77 4.68919e-08 6.18609e-08 1 1 0 CDK5RAP2 55755 broad.mit.edu 37 9 123165113 123165113 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:123165113T>A ENST00000349780.4 - 34 5457 c.5278A>T c.(5278-5280)Agc>Tgc p.S1760C CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1719C|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1681C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1728C NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1760 Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CTTGTGGAGCTGGGAGCCTCT 0.577000 20 50 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29854858 29854858 + Splice_Site SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:29854858A>G ENST00000325874.8 + 11 1503 c.e11-1 RAB11FIP4_ENST00000394744.2_Splice_Site NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TCCTTTCGCCAGGGTGCAGCA 0.483000 4 11 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866757 23866757 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:23866757G>T ENST00000405093.3 - 16 2027 c.1957C>A c.(1957-1959)Cac>Aac p.H653N MYH6_ENST00000356287.3_Missense_Mutation_p.H653N NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 653 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTACCCGGTGGAGAGCCGAC 0.542000 10 69 3.86212e-05 4.45126e-05 1 1 0 APLNR 187 broad.mit.edu 37 11 57003659 57003659 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:57003659C>T ENST00000606794.1 - 1 1016 c.820G>A c.(820-822)Ggc>Agc p.G274S NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 274 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGCAGGCTGCCCAGCATGTAC 0.597000 16 30 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25523106 25523106 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:25523106C>A ENST00000264709.3 - 3 416 c.79G>T c.(79-81)Gag>Tag p.E27* DNMT3A_ENST00000406659.3_Nonsense_Mutation_p.E27*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E27* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 27 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTGCTCCTCTCCGTCCTGC 0.682000 """Mis, F, N, S""" AML 5 19 0.00116845 0.00125035 1 1 0 NPY5R 4889 broad.mit.edu 37 4 164271597 164271597 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:164271597G>A ENST00000515560.1 + 4 1694 c.172G>A c.(172-174)Ggg>Agg p.G58R NPY5R_ENST00000338566.3_Missense_Mutation_p.G58R|NPY5R_ENST00000506953.1_Missense_Mutation_p.G58R Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 58 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.G58W(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGGCTTTATGGGGAATCTACT 0.378000 25 156 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841791 5841791 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:5841791T>A ENST00000317037.2 + 1 248 c.226T>A c.(226-228)Tgc>Agc p.C76S TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCACCTTGTGCACCACCAT 0.527000 34 113 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20907087 20907087 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:20907087G>T ENST00000298925.5 + 6 840 c.e6+1 NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000357134.5_Splice_Site Q92832 NELL1_HUMAN NEL-like 1 (chicken) cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CTTATTCAAAGTAAGCACTAA 0.403000 9 29 0.000274275 0.000302147 1 1 0 TTN 7273 broad.mit.edu 37 2 179462456 179462456 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:179462456C>A ENST00000589042.1 - 294 57577 c.57353G>T c.(57352-57354)gGa>gTa p.G19118V TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10053V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17477V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10245V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16550V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10178V|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17477 Fibronectin type-III 38. 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) AGGAGGCTTTCCAGACACATA 0.483000 7 69 0.00198382 0.00210781 1 1 0 SDK1 221935 broad.mit.edu 37 7 4153881 4153881 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:4153881G>T ENST00000404826.2 + 25 3937 c.3798G>T c.(3796-3798)gtG>gtT p.V1266V SDK1_ENST00000389531.3_Silent_p.V1266V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1266 Fibronectin type-III 6. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGAGCGAGGTGGTGCGGGGCC 0.637000 5 23 0.000602214 0.000655686 1 1 0 SOX6 55553 broad.mit.edu 37 11 16208425 16208425 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:16208425C>A ENST00000352083.6 - 5 689 c.612G>T c.(610-612)caG>caT p.Q204H SOX6_ENST00000527619.1_Missense_Mutation_p.Q207H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q204H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q204H|SOX6_ENST00000316399.6_Missense_Mutation_p.Q204H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q204H P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 204 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 CTGCCAGTAGCTGCTCCCGTA 0.493000 63 124 2.20561e-19 3.62593e-19 1 1 0 SULF2 55959 broad.mit.edu 37 20 46313316 46313316 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:46313316G>T ENST00000359930.4 - 6 1598 c.747C>A c.(745-747)agC>agA p.S249R CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.S249R|SULF2_ENST00000484875.1_Missense_Mutation_p.S249R|SULF2_ENST00000467815.1_Missense_Mutation_p.S249R NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 249 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CGTAGTTGTAGCTCGGCGTGC 0.632000 18 33 1.01871e-10 1.44045e-10 1 1 0 ZNF33A 7581 broad.mit.edu 37 10 38344699 38344699 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:38344699G>A ENST00000374618.3 + 5 1825 c.1647G>A c.(1645-1647)ggG>ggA p.G549G ZNF33A_ENST00000432900.2_Silent_p.G555G|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.G548G|ZNF33A_ENST00000307441.9_Silent_p.G548G NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 548 Q -> E (in dbSNP:rs2505232). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CACACACAGGGCAGAAACCCT 0.428000 10 127 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100061934 100061934 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:100061934G>T ENST00000524871.1 + 14 1947 c.1657G>T c.(1657-1659)Ggg>Tgg p.G553W CNTN5_ENST00000527185.1_Missense_Mutation_p.G553W|CNTN5_ENST00000279463.3_Missense_Mutation_p.G553W|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G553W|CNTN5_ENST00000418526.2_Missense_Mutation_p.G479W NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 553 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CGTTTGCCGAGGGGAAAACGT 0.393000 14 49 2.61681e-11 3.76419e-11 1 1 0 SLC6A4 6532 broad.mit.edu 37 17 28544217 28544217 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:28544217G>A ENST00000401766.2 - 5 1316 c.804C>T c.(802-804)ttC>ttT p.F268F SLC6A4_ENST00000261707.3_Silent_p.F268F P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 268 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TCCAGATGCTGAAGTAGATAA 0.597000 29 102 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24185863 24185863 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:24185863C>G ENST00000303531.7 + 12 1508 c.1356C>G c.(1354-1356)atC>atG p.I452M PRKCB_ENST00000321728.7_Missense_Mutation_p.I452M NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 452 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AAATTGCCATCGGTCTGTTCT 0.423000 3 48 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510364 71510364 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:71510364C>G ENST00000396073.3 + 9 3502 c.3221C>G c.(3220-3222)tCt>tGt p.S1074C ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1074 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGAACTCCATCTAGCGATGGA 0.443000 25 72 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545480 234545480 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:234545480T>C ENST00000344644.5 + 1 381 c.312T>C c.(310-312)agT>agC p.S104S UGT1A10_ENST00000373445.1_Silent_p.S104S|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGCACAAAGTATATTTTCTC 0.378000 24 115 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227264 75227264 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:75227264C>A ENST00000342232.4 - 2 1011 c.971G>T c.(970-972)gGc>gTc p.G324V NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 324 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTCTTTGGAGCCGTCAGGAAA 0.463000 50 142 1.19451e-25 2.05875e-25 1 1 0 RBM12B 389677 broad.mit.edu 37 8 94746661 94746661 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:94746661T>A ENST00000399300.2 - 3 2191 c.1978A>T c.(1978-1980)Agg>Tgg p.R660W RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 660 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGAGCCACCTTAAGTCCTCC 0.637000 57 132 0 0 1 0 0 CST2 1470 broad.mit.edu 37 20 23805878 23805878 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:23805878C>T ENST00000304725.2 - 2 381 c.311G>A c.(310-312)tGt>tAt p.C104Y NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA 104 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 ATGGAAGGCACAGGTGTCCAA 0.547000 15 216 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887785 25887785 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:25887785A>C ENST00000376351.3 + 11 3589 c.3230A>C c.(3229-3231)cAa>cCa p.Q1077P GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1077 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGGGAGAGCCAAGGCCAGTCC 0.493000 24 109 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131343323 131343323 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:131343323G>C ENST00000372739.3 + 11 1556 c.1446G>C c.(1444-1446)tgG>tgC p.W482C SPTAN1_ENST00000372731.4_Missense_Mutation_p.W482C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.W482C NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 482 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TGGACAACTGGATGAGCAAGC 0.572000 12 94 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308204 72308204 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:72308204G>T ENST00000579490.1 + 11 1863 c.1728G>T c.(1726-1728)ctG>ctT p.L576L DNAI2_ENST00000311014.6_Silent_p.L519L|DNAI2_ENST00000582036.1_Silent_p.L507L|DNAI2_ENST00000446837.2_Silent_p.L519L|DNAI2_ENST00000307504.5_Silent_p.L376L Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 519 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGATGCGGCTGAAGGAGAAGG 0.647000 Kartagener syndrome 4 37 2.56e-06 3.08354e-06 1 1 0 MASP1 5648 broad.mit.edu 37 3 186943140 186943140 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:186943140G>A ENST00000337774.5 - 13 2102 c.1713C>T c.(1711-1713)atC>atT p.I571I NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 571 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGGCAGACAGATGGGCATCA 0.582000 63 66 0 0 1 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478932 141478932 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:141478932C>T ENST00000247881.2 + 1 691 c.644C>T c.(643-645)aCt>aTt p.T215I SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 215 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) AAAAATGCCACTGGTTTCTGG 0.443000 4 98 0 0 1 0 0 CD151 977 broad.mit.edu 37 11 838021 838021 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:838021G>T ENST00000397420.3 + 8 944 c.695G>T c.(694-696)tGt>tTt p.C232F CD151_ENST00000528011.1_Missense_Mutation_p.C230F|CD151_ENST00000322008.4_Missense_Mutation_p.C232F|CD151_ENST00000397421.1_Missense_Mutation_p.C232F P48509 CD151_HUMAN CD151 molecule (Raph blood group) 232 cell adhesion|hemidesmosome assembly cytosol|integral to plasma membrane|membrane fraction protein binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCATTGCCTGTGTGCAGGTG 0.667000 7 19 8.12818e-05 9.23994e-05 1 1 0 IRF2BPL 64207 broad.mit.edu 37 14 77492113 77492113 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:77492113G>C ENST00000238647.3 - 1 2921 c.2023C>G c.(2023-2025)Cgt>Ggt p.R675G NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 675 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TCCCCGTTACGTGATGCCAAG 0.677000 9 41 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120435290 120435290 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:120435290G>T ENST00000259526.3 + 5 1219 c.992G>T c.(991-993)tGc>tTc p.C331F RP11-775B15.2_ENST00000519786.1_RNA NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 331 CTCK. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTGGGACCTGCACCTGTCAC 0.527000 18 222 2.4624e-09 3.34886e-09 1 1 0 SCG2 7857 broad.mit.edu 37 2 224462640 224462640 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:224462640G>T ENST00000305409.2 - 2 1593 c.1361C>A c.(1360-1362)cCc>cAc p.P454H NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 454 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATATGGATTGGGAAAATACGA 0.478000 22 122 1.96292e-10 2.74956e-10 1 1 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825135 34825135 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:34825135G>T ENST00000192788.5 + 12 1632 c.1461G>T c.(1459-1461)aaG>aaT p.K487N UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K487N NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 487 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CAAGTAAAAAGCCATCTACAC 0.433000 23 75 1.37657e-19 2.273e-19 1 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3390072 3390072 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:3390072C>G ENST00000378378.4 + 8 1696 c.1291C>G c.(1291-1293)Ccc>Gcc p.P431A ARHGEF16_ENST00000378373.1_Missense_Mutation_p.P143A|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.P135A|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.P143A NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 431 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GACCCGGCTGCCCCTCCTGAT 0.682000 23 48 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687041 21687041 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:21687041C>T ENST00000444366.2 + 1 181 c.180C>T c.(178-180)tcC>tcT p.S60S PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron P15863 PAX1_HUMAN paired box 1 83 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GTGTTTTCTCCCCCTCCGGCT 0.667000 17 62 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518250 8518250 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:8518250C>A ENST00000381196.4 - 18 1684 c.1141G>T c.(1141-1143)Gct>Tct p.A381S PTPRD_ENST00000397617.3_Missense_Mutation_p.A371S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A368S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A381S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A368S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A381S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A378S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A381S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A381S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A371S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A378S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 381 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTTAGTCCAGCGACACTGTAG 0.468000 TSP Lung(15;0.13) 27 88 6.32553e-13 9.35078e-13 1 1 0 PLEKHB2 55041 broad.mit.edu 37 2 131883344 131883344 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:131883344G>T ENST00000403716.1 + 3 616 c.56G>T c.(55-57)tGg>tTg p.W19L PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W19L|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.W19L|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.W19L|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.W19L|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W19L NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 19 PH. membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) TTGAAGCGCTGGAAGAAGAAC 0.413000 16 70 7.05477e-17 1.118e-16 1 1 0 TG 7038 broad.mit.edu 37 8 133894758 133894758 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:133894758G>T ENST00000220616.4 + 7 830 c.790G>T c.(790-792)Ggc>Tgc p.G264C TG_ENST00000377869.1_Missense_Mutation_p.G264C NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 264 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CATTTTTGCTGGCCTGGACCT 0.478000 56 217 1.54043e-34 2.75656e-34 1 1 0 C5orf38 153571 broad.mit.edu 37 5 2753469 2753469 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:2753469G>T ENST00000515640.1 + 3 423 c.404G>T c.(403-405)cGg>cTg p.R135L C5orf38_ENST00000334000.3_Splice_Site_p.R135_splice|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000397835.4_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.R135L Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 135 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GCAGGCTCCCGGTAGGCGCGG 0.657000 11 101 0.000978159 0.00105275 1 1 0 FOXB2 442425 broad.mit.edu 37 9 79635163 79635163 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:79635163C>T ENST00000376708.1 + 1 593 c.593C>T c.(592-594)cCc>cTc p.P198L NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 198 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CCGTCACAGCCCCCGCAGCAA 0.766000 9 15 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635233 42635233 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:42635233C>A ENST00000358131.5 + 3 447 c.239C>A c.(238-240)cCg>cAg p.P80Q TOX2_ENST00000372999.1_Missense_Mutation_p.P29Q|TOX2_ENST00000341197.3_Missense_Mutation_p.P71Q|TOX2_ENST00000423191.1_Missense_Mutation_p.P29Q NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 80 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GAGATCCCCCCGATAACACCT 0.587000 22 110 1.28384e-07 1.65286e-07 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99537313 99537313 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:99537313C>T ENST00000376460.1 - 21 2374 c.2294G>A c.(2293-2295)gGa>gAa p.G765E DOCK9_ENST00000442173.1_Missense_Mutation_p.G765E|DOCK9_ENST00000448493.2_Missense_Mutation_p.G777E|DOCK9_ENST00000339416.2_Missense_Mutation_p.G766E NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 766 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CACCACCCTTCCGTCTTTCAG 0.507000 11 15 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47587797 47587797 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:47587797G>T ENST00000371917.4 + 10 1331 c.1331G>T c.(1330-1332)gGc>gTc p.G444V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 444 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCCAAAAACGGCGTCTCTTCA 0.438000 12 130 0.00185496 0.00197933 1 1 0 TMEM255A 55026 broad.mit.edu 37 X 119410766 119410766 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:119410766C>T ENST00000371369.4 - 7 875 c.649G>A c.(649-651)Gct>Act p.A217T TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.A77T|TMEM255A_ENST00000309720.5_Missense_Mutation_p.A241T NM_001104544.1 NP_001098014.1 transmembrane protein 255A CCAAGGACAGCGGCAGTGATG 0.527000 9 49 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53809911 53809911 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:53809911G>A ENST00000396328.1 - 20 3533 c.3294C>T c.(3292-3294)ccC>ccT p.P1098P WDR72_ENST00000559418.1_Silent_p.P1108P|WDR72_ENST00000557913.1_Silent_p.P1095P|WDR72_ENST00000360509.5_Silent_p.P1098P|WDR72_ENST00000567224.1_5'UTR NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1098 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) ACACCTTGCAGGGGCAGACCT 0.363000 21 87 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156294509 156294509 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:156294509G>A ENST00000311277.4 - 4 523 c.260C>T c.(259-261)tCa>tTa p.S87L MAP9_ENST00000379248.2_Missense_Mutation_p.S15L|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S87L NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 87 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CAATAGTTTTGAAGGATTCTT 0.328000 8 38 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247582226 247582226 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:247582226G>T ENST00000366497.2 + 2 910 c.130G>T c.(130-132)Ggt>Tgt p.G44C NLRP3_ENST00000336119.3_Missense_Mutation_p.G44C|NLRP3_ENST00000391827.2_Missense_Mutation_p.G44C|NLRP3_ENST00000391828.3_Missense_Mutation_p.G44C|NLRP3_ENST00000366496.2_Missense_Mutation_p.G44C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.G44C NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 44 DAPIN. 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) CCTCCCGAGGGGTCAGACAGA 0.567000 8 47 0.000157383 0.000176761 1 1 0 SLC12A3 6559 broad.mit.edu 37 16 56913528 56913528 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:56913528G>T ENST00000438926.2 + 11 1439 c.1410G>T c.(1408-1410)ctG>ctT p.L470L SLC12A3_ENST00000566786.1_Silent_p.L469L|SLC12A3_ENST00000262502.5_Silent_p.L469L|SLC12A3_ENST00000563236.1_Silent_p.L470L NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 470 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCTCTGCCCTGGCCTGCCTTG 0.637000 5 61 0.0215528 0.0220842 1 1 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32123712 32123712 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:32123712T>C ENST00000422437.1 + 5 689 c.498T>C c.(496-498)taT>taC p.Y166Y PPT2_ENST00000445576.2_Silent_p.Y166Y|PPT2_ENST00000375143.2_Silent_p.Y166Y|PPT2_ENST00000375137.2_Silent_p.Y166Y|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000395523.1_Silent_p.Y166Y|PPT2_ENST00000324816.6_Silent_p.Y166Y|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_Silent_p.Y43Y|PPT2_ENST00000361568.2_Silent_p.Y172Y GGATCTGCTATAGCCCCTGGG 0.537000 10 99 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177250467 177250467 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:177250467C>G ENST00000361539.4 + 8 2467 c.2155C>G c.(2155-2157)Cag>Gag p.Q719E FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 719 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGCACTCTTGCAGCTCATTGA 0.542000 23 162 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50098435 50098435 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:50098435C>T ENST00000418929.2 + 4 855 c.843C>T c.(841-843)gcC>gcT p.A281A NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 17 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTGAGCGGGCCCTGCCACGCC 0.701000 8 10 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122004435 122004435 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:122004435C>A ENST00000265922.3 - 4 930 c.469G>T c.(469-471)Gcc>Tcc p.A157S DBC1_ENST00000373964.2_Missense_Mutation_p.A157S NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 157 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTTTGAGTGGCATTCCCTGAC 0.483000 26 54 9.04412e-07 1.10902e-06 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 58 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95822393 95822393 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:95822393G>A ENST00000416240.2 - 6 761 c.571C>T c.(571-573)Cgc>Tgc p.R191C SLC25A13_ENST00000265631.5_Missense_Mutation_p.R191C|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R83C NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 191 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) ACATGGGGGCGGATGGTGACC 0.448000 12 64 0 0 1 0 0 UBL4B 164153 broad.mit.edu 37 1 110655635 110655635 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:110655635G>T ENST00000334179.3 + 1 574 c.479G>T c.(478-480)aGc>aTc p.S160I NM_203412.1 NP_981957.1 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 160 cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 7 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) CGGCCTCAGAGCTCCTGTGAC 0.597000 5 24 5.9392e-07 7.4042e-07 1 1 0 OR4E2 26686 broad.mit.edu 37 14 22133475 22133475 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:22133475A>T ENST00000408935.1 + 1 179 c.179A>T c.(178-180)tAt>tTt p.Y60F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ACCCCCATGTATTTCTTCCTG 0.418000 76 234 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355306 56355306 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:56355306C>A ENST00000340482.3 - 6 1358 c.1182G>T c.(1180-1182)ctG>ctT p.L394L MPO_ENST00000225275.3_Silent_p.L362L|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 362 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TGACGGCCAGCAGCCCCAGCT 0.642000 8 58 5.18039e-06 6.19989e-06 1 1 0 CHST8 64377 broad.mit.edu 37 19 34180198 34180198 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:34180198G>A ENST00000262622.3 + 2 789 c.31G>A c.(31-33)Gcc>Acc p.A11T CHST8_ENST00000604556.1_Missense_Mutation_p.A11T|CHST8_ENST00000434302.1_Missense_Mutation_p.A11T|CHST8_ENST00000438847.2_Missense_Mutation_p.A11T NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 11 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) AATGCGGCTGGCCTGCATGTT 0.652000 24 77 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704146 113704146 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:113704146C>A ENST00000374431.3 - 4 731 c.348G>T c.(346-348)ctG>ctT p.L116L LPAR1_ENST00000358883.4_Silent_p.L116L|LPAR1_ENST00000374430.2_Silent_p.L116L|LPAR1_ENST00000541779.1_Silent_p.L117L|LPAR1_ENST00000538760.1_Silent_p.L117L NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 116 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 TGCTAACAGTCAGTCTCCGAG 0.498000 47 91 2.65591e-33 4.74134e-33 1 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20893173 20893173 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:20893173C>T ENST00000381552.1 + 12 1972 c.1604C>T c.(1603-1605)tCa>tTa p.S535L SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S535L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S535L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S417L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S486L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 535 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GGAAATTCCTCAGGCATAGTG 0.373000 34 89 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180675674 180675674 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:180675674G>T ENST00000357559.4 + 10 1332 c.948G>T c.(946-948)gtG>gtT p.V316V FXR1_ENST00000480918.1_Silent_p.V303V|FXR1_ENST00000305586.7_Silent_p.V231V|FXR1_ENST00000445140.2_Silent_p.V316V|FXR1_ENST00000468861.1_Silent_p.V231V|FXR1_ENST00000491062.1_Silent_p.V267V NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 316 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TGGTTCGAGTGAGAATTGAAG 0.323000 43 56 6.7651e-33 1.20483e-32 1 1 0 PREX1 57580 broad.mit.edu 37 20 47246139 47246139 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:47246139G>A ENST00000371941.3 - 37 4636 c.4614C>T c.(4612-4614)gcC>gcT p.A1538A PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871.2 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1538 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTCATCCAGGGCATTGATGG 0.642000 8 72 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256244 15256244 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:15256244G>T ENST00000378116.4 - 8 1349 c.1343C>A c.(1342-1344)aCt>aAt p.T448N FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 448 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCCACTTGGAGTGAGGTTATC 0.502000 9 63 0.00448238 0.00472894 1 1 0 PABPC1 26986 broad.mit.edu 37 8 101718960 101718960 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:101718960G>A ENST00000318607.5 - 11 2649 c.1521C>T c.(1519-1521)acC>acT p.T507T PABPC1_ENST00000522387.1_Silent_p.T475T|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Silent_p.T462T NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 507 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) ACTGTGGAACGGTGCGGACAG 0.438000 18 69 0 0 1 0 0 TRIP13 9319 broad.mit.edu 37 5 917141 917141 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:917141G>C ENST00000166345.3 + 13 1578 c.1222G>C c.(1222-1224)Gag>Cag p.E408Q TRIP13_ENST00000510412.1_3'UTR NM_004237.3 NP_004228.1 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 408 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) CGTCACCATAGAGGGGTTCCT 0.592000 12 77 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678887 100678887 + Missense_Mutation SNP C C T rs141608296 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:100678887C>T ENST00000306151.4 + 3 4254 c.4190C>T c.(4189-4191)cCg>cTg p.P1397L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1397 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity 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) GGAACCACTCCGTTAACAAGT 0.507000 138 373 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33603269 33603269 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:33603269G>T ENST00000389232.4 + 1 93 c.23G>T c.(22-24)gGc>gTc p.G8V RYR3_ENST00000415757.3_Missense_Mutation_p.G8V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 8 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) GGAGAAGGAGGCGAGGACGAG 0.746000 6 17 1.12685e-05 1.33579e-05 1 1 0 FAF1 11124 broad.mit.edu 37 1 51001120 51001120 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:51001120G>A ENST00000396153.2 - 15 1866 c.1415C>T c.(1414-1416)aCa>aTa p.T472I FAF1_ENST00000371778.4_Missense_Mutation_p.T472I|FAF1_ENST00000545823.1_Missense_Mutation_p.T230I NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 472 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTCATCTACTGTTGTGTTCCC 0.328000 13 68 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102608499 102608499 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:102608499C>T ENST00000393772.2 - 7 987 c.561G>A c.(559-561)ttG>ttA p.L187L FBXL13_ENST00000313221.4_Silent_p.L187L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L187L|FBXL13_ENST00000455112.2_Silent_p.L187L|FBXL13_ENST00000436908.1_Silent_p.L187L|FBXL13_ENST00000379305.3_Silent_p.L187L|FBXL13_ENST00000379306.3_Silent_p.L187L|FBXL13_ENST00000379308.3_Silent_p.L187L Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 187 F-box. NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GTTGTGTCATCAACATCCAGG 0.343000 9 67 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36489584 36489584 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:36489584A>T ENST00000229812.7 - 5 602 c.317T>A c.(316-318)gTt>gAt p.V106D NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 106 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTCTTCTGAACAAGCCGTAC 0.358000 12 60 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221326 5221326 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:5221326C>A ENST00000321255.1 - 1 604 c.605G>T c.(604-606)cGa>cTa p.R202L NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R202P(1) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTATTGAATCGGATGTCTGA 0.408000 17 42 0.000958276 0.00104033 1 1 0 GMEB1 10691 broad.mit.edu 37 1 29030804 29030804 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:29030804T>C ENST00000373816.1 + 8 969 c.831T>C c.(829-831)gtT>gtC p.V277V GMEB1_ENST00000361872.4_Silent_p.V277V|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Silent_p.V287V NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TCAGGGGAGTTCAGCAGCGGC 0.478000 10 62 0 0 1 0 0 SDF2 6388 broad.mit.edu 37 17 26982498 26982498 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:26982498C>A ENST00000247020.4 - 2 453 c.155G>T c.(154-156)aGt>aTt p.S52I SDF2_ENST00000592250.1_5'UTR NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 52 MIR 1. protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Lung NSC(42;0.00431) CTGCTGCCCACTACCTGCAGT 0.517000 33 115 3.11337e-16 4.88219e-16 1 1 0 ELMSAN1 91748 broad.mit.edu 37 14 74206049 74206049 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:74206049G>A ENST00000286523.5 - 2 1445 c.663C>T c.(661-663)ttC>ttT p.F221F ELMSAN1_ENST00000394071.2_Silent_p.F221F NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 CCTGGTGGCCGAATGCCAGCT 0.652000 7 71 0 0 1 0 0 HINFP 25988 broad.mit.edu 37 11 119002578 119002578 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:119002578G>T ENST00000350777.2 + 5 625 c.562G>T c.(562-564)Gag>Tag p.E188* HINFP_ENST00000527410.1_Nonsense_Mutation_p.E188*|HINFP_ENST00000527354.1_3'UTR NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 188 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TAAACTTCGAGAGCACCTCCG 0.547000 23 57 7.87624e-14 1.18779e-13 1 1 0 TRIM15 89870 broad.mit.edu 37 6 30139640 30139640 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:30139640C>A ENST00000376694.4 + 7 1381 c.912C>A c.(910-912)agC>agA p.S304R TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 304 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 AGACCGCCAGCCGGAGCCTGG 0.642000 5 10 0.014758 0.0151843 1 1 0 UBXN1 51035 broad.mit.edu 37 11 62446030 62446030 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:62446030C>G ENST00000294119.2 - 3 288 c.157G>C c.(157-159)Gag>Cag p.E53Q UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.E53Q|UBXN1_ENST00000301935.5_Missense_Mutation_p.E53Q NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 53 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 AGGGGAGTCTCTAAAGGCTCG 0.617000 5 92 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039487 248039487 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:248039487T>A ENST00000366481.3 + 6 1205 c.1157T>A c.(1156-1158)cTg>cAg p.L386Q OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 386 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCCTGTGGCTGCTGAAAGGG 0.547000 68 113 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 21875246 21875246 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:21875246G>T ENST00000377072.3 + 4 612 c.264G>T c.(262-264)aaG>aaT p.K88N MLLT10_ENST00000307729.7_Missense_Mutation_p.K88N|MLLT10_ENST00000446906.2_Missense_Mutation_p.K88N|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377059.3_Missense_Mutation_p.K88N NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 88 Self-association. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GTCCCCATAAGGATGGAGCTT 0.308000 T """MLL, PICALM, CDK6""" AL 4 15 0.184627 0.18587 1 1 0 CASS4 57091 broad.mit.edu 37 20 55027161 55027161 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:55027161C>T ENST00000371336.3 + 5 1130 c.929C>T c.(928-930)cCt>cTt p.P310L CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P310L NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 310 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCAGAAATTCCTTCTTATGGC 0.463000 25 53 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9382142 9382142 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:9382142C>A ENST00000378501.2 + 17 1531 c.1516C>A c.(1516-1518)Caa>Aaa p.Q506K PLCB4_ENST00000278655.4_Missense_Mutation_p.Q506K|PLCB4_ENST00000378493.1_Missense_Mutation_p.Q506K|PLCB4_ENST00000334005.3_Missense_Mutation_p.Q506K|PLCB4_ENST00000378473.3_Missense_Mutation_p.Q506K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.Q506K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 506 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CACAGCTGACCAAGAGGAGGA 0.438000 3 36 0.150653 0.152077 1 1 0 NOS1 4842 broad.mit.edu 37 12 117768676 117768676 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:117768676C>T ENST00000317775.6 - 2 884 c.199G>A c.(199-201)Gtc>Atc p.V67I NOS1_ENST00000344089.3_Missense_Mutation_p.V67I|NOS1_ENST00000338101.4_Missense_Mutation_p.V67I NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 67 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CGGCCGTTGACCGCAAGAATG 0.632000 25 36 0 0 1 0 0 SHC2 25759 broad.mit.edu 37 19 419036 419036 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:419036C>G ENST00000264554.6 - 12 1640 c.1641G>C c.(1639-1641)ctG>ctC p.L547L NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 547 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCTCTCAAACAGCACGTCCT 0.652000 4 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046547 9046547 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:9046547G>T ENST00000397910.4 - 5 35287 c.35084C>A c.(35083-35085)cCa>cAa p.P11695Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11697 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTGGTCTGTGGAGGATGAGT 0.522000 45 75 5.44703e-19 8.87664e-19 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132808 91132808 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:91132808T>A ENST00000373094.1 + 2 2414 c.1569T>A c.(1567-1569)acT>acA p.T523T PCDH11X_ENST00000504220.1_Silent_p.T523T|PCDH11X_ENST00000406881.1_Silent_p.T523T|PCDH11X_ENST00000361724.1_Silent_p.T523T|PCDH11X_ENST00000373097.1_Silent_p.T523T|PCDH11X_ENST00000298274.8_Silent_p.T523T|PCDH11X_ENST00000361655.2_Silent_p.T523T|PCDH11X_ENST00000373088.1_Silent_p.T523T|PCDH11X_ENST00000395337.2_Silent_p.T523T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 523 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GCATGCTGACTGTAGTGAAGA 0.438000 10 32 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94847330 94847330 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:94847330C>T ENST00000448921.1 - 5 1367 c.795G>A c.(793-795)ctG>ctA p.L265L SERPINA1_ENST00000449399.3_Silent_p.L265L|SERPINA1_ENST00000393088.4_Silent_p.L265L|SERPINA1_ENST00000393087.4_Silent_p.L265L|SERPINA1_ENST00000404814.4_Silent_p.L265L|SERPINA1_ENST00000437397.1_Silent_p.L265L|SERPINA1_ENST00000402629.1_Silent_p.L265L|SERPINA1_ENST00000355814.4_Silent_p.L265L|SERPINA1_ENST00000440909.1_Silent_p.L265L NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 265 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGTATTTCATCAGCAGCACCC 0.512000 9 73 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966598 58966598 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:58966598G>C ENST00000391696.1 + 3 1189 c.257G>C c.(256-258)cGa>cCa p.R86P ZNF324B_ENST00000545523.1_Missense_Mutation_p.R96P|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R96P Q6AW86 Z324B_HUMAN zinc finger protein 324B 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GAATGGCCACGAGCTTTCCCA 0.557000 43 86 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201436296 201436296 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:201436296G>A ENST00000357799.4 + 7 1325 c.1227G>A c.(1225-1227)aaG>aaA p.K409K NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 409 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 CTGAAAAAAAGAGAGAAAGAT 0.328000 6 59 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113187949 113187949 + Silent SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:113187949T>G ENST00000295872.4 - 8 1007 c.748A>C c.(748-750)Aga>Cga p.R250R NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 250 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 AACAAACCTCTTTGCTCCCCT 0.388000 20 52 0 0 1 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20169985 20169985 + RNA SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:20169985C>A ENST00000338912.5 - 0 286 GTAGGCTGTGCCCATGGATGT 0.527000 83 166 9.61239e-26 1.66437e-25 1 1 0 CHRND 1144 broad.mit.edu 37 2 233398942 233398942 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:233398942C>T ENST00000258385.3 + 11 1293 c.1261C>T c.(1261-1263)Cca>Tca p.P421S CHRND_ENST00000543200.1_Missense_Mutation_p.P406S|CHRND_ENST00000457943.2_Missense_Mutation_p.P227S NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 421 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AGGCCGGCCCCCAGCAAGCTC 0.602000 14 55 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726357 168726357 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:168726357C>A ENST00000305861.1 + 2 1159 c.808C>A c.(808-810)Ctg>Atg p.L270M AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.L270M NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 270 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 ATATGTGGGACTGTGTCTTCG 0.473000 23 67 1.55795e-14 2.388e-14 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139155262 139155262 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:139155262G>T ENST00000395297.1 - 16 3801 c.3631C>A c.(3631-3633)Cga>Aga p.R1211R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1211 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACCTAATTCGGGATATGGAG 0.398000 HNSCC(54;0.14) 12 53 2.27111e-07 2.89402e-07 1 1 0 TIFAB 497189 broad.mit.edu 37 5 134785511 134785511 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:134785511C>T ENST00000537858.1 - 2 319 c.119G>A c.(118-120)cGg>cAg p.R40Q NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 40 FHA. breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCCTGCCCCCGTCCGAGAAG 0.662000 4 56 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63069944 63069944 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:63069944G>A ENST00000332793.6 + 7 1216 c.1214G>A c.(1213-1215)cGt>cAt p.R405H SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 405 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATATGGGCCGTCGAATAAGC 0.473000 5 104 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880652 12880652 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:12880652A>G ENST00000155926.4 + 3 2183 c.764A>G c.(763-765)cAt>cGt p.H255R TRIB2_ENST00000381465.2_Missense_Mutation_p.H119R NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 255 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TACCCTTTCCATGACATTGAA 0.572000 9 28 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171252285 171252285 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:171252285G>T ENST00000354841.4 + 7 1317 c.1186G>T c.(1186-1188)Gta>Tta p.V396L FMO1_ENST00000367750.3_Missense_Mutation_p.V396L|FMO1_ENST00000402921.2_Missense_Mutation_p.V333L|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 396 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCCTACAGGTGTAAATAAGTT 0.358000 32 77 1.61788e-16 2.54773e-16 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622838 20622838 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:20622838C>T ENST00000525748.1 + 2 440 c.167C>T c.(166-168)tCc>tTc p.S56F NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 56 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AGGTCCGCTTCCACCGGCGCC 0.736000 4 10 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267460 1267460 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:1267460G>A ENST00000447027.1 + 31 9417 c.9359G>A c.(9358-9360)aGg>aAg p.R3120K MUC5B_ENST00000529681.1_Missense_Mutation_p.R3117K|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3117 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.R3117L(1)|p.R3096L(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCACGACAAGGGCCACCAGT 0.637000 21 84 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186645624 186645624 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:186645624G>T ENST00000367468.5 - 7 1081 c.945C>A c.(943-945)ttC>ttA p.F315L PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 315 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TGCTTGTCTGGAACAACTGCT 0.423000 38 160 1.58521e-26 2.76395e-26 1 1 0 TTN 7273 broad.mit.edu 37 2 179639156 179639156 + Missense_Mutation SNP G G T rs143679901 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:179639156G>T ENST00000589042.1 - 30 7059 c.6835C>A c.(6835-6837)Cca>Aca p.P2279T TTN_ENST00000460472.2_Missense_Mutation_p.P2233T|TTN_ENST00000591111.1_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2233T|TTN_ENST00000342992.6_Missense_Mutation_p.P2279T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P2233T|TTN_ENST00000360870.5_Missense_Mutation_p.P2279T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2003 Ig-like 12. 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) TATGATTCTGGAACTTCTATG 0.348000 7 67 8.12818e-05 9.23994e-05 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141709 29141709 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:29141709G>T ENST00000377167.2 + 1 399 c.297G>T c.(295-297)atG>atT p.M99I NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTGGTTGCATGGTTCAACTTT 0.478000 51 196 3.4597e-24 5.90835e-24 1 1 0 C17orf78 284099 broad.mit.edu 37 17 35745728 35745728 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:35745728C>A ENST00000300618.4 + 5 682 c.633_splice c.e5+1 p.P211_splice ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000589665.1_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 211 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) GTCCCATGTCCTGTAAGTTTG 0.398000 8 19 0.000157383 0.000176761 1 1 0 TFAP2D 83741 broad.mit.edu 37 6 50740545 50740545 + Missense_Mutation SNP G G C rs78823892 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:50740545G>C ENST00000008391.3 + 8 1555 c.1327G>C c.(1327-1329)Gtg>Ctg p.V443L NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 443 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AGAGGCTGCCGTGAAAGAGGG 0.453000 3 37 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61957912 61957912 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:61957912C>T ENST00000332800.7 - 4 809 c.676G>A c.(676-678)Gct>Act p.A226T GH2_ENST00000456543.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 AGAGGCCAAGCGCTTGGGCAC 0.532000 22 90 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944779 47944779 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:47944779T>A ENST00000289672.2 - 11 1716 c.1666A>T c.(1666-1668)Aaa>Taa p.K556* NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 556 PKD 1. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGTCTTTTTTTAATGCTTCTT 0.433000 57 71 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173998697 173998697 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:173998697G>C ENST00000457714.1 + 7 2505 c.2076G>C c.(2074-2076)ttG>ttC p.L692F NLGN1_ENST00000401917.3_Missense_Mutation_p.L732F|NLGN1_ENST00000545397.1_Missense_Mutation_p.L692F|NLGN1_ENST00000361589.4_Missense_Mutation_p.L692F NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 709 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGAACATCTTGGCCTTTGCAG 0.463000 47 55 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104427550 104427550 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:104427550G>T ENST00000297579.5 + 1 609 c.332G>T c.(331-333)cGc>cTc p.R111L NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CCAGCAGGCCGCCGCTCCGCG 0.637000 22 53 1.50039e-11 2.16241e-11 1 1 0 USH2A 7399 broad.mit.edu 37 1 215848172 215848172 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:215848172G>T ENST00000366943.2 - 63 13467 c.13081C>A c.(13081-13083)Cct>Act p.P4361T USH2A_ENST00000307340.3_Missense_Mutation_p.P4361T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4361 Fibronectin type-III 29. 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) AGATCTGGAGGGCTGACTTCT 0.488000 HNSCC(13;0.011) 18 50 3.99206e-14 6.04465e-14 1 1 0 OR1L1 26737 broad.mit.edu 37 9 125424286 125424286 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:125424286C>G ENST00000373686.1 + 1 442 c.442C>G c.(442-444)Ctg>Gtg p.L148V Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 CAGTGAGTGTCTGACCCAGAT 0.438000 17 258 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86088367 86088367 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:86088367T>A ENST00000377332.3 - 3 363 c.255A>T c.(253-255)ttA>ttT p.L85F ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L85F|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L57F|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L62F NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 85 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 TAGTATAATTTAACTTGAGGA 0.333000 30 53 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066400 70066400 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:70066400G>A ENST00000446444.1 - 6 1356 c.1348C>T c.(1348-1350)Cat>Tat p.H450Y RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 450 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GGTTGATCATGTTGAATTCTT 0.383000 27 88 0 0 1 0 0 C3orf72 401089 broad.mit.edu 37 3 138668464 138668464 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:138668464C>G ENST00000383165.3 + 2 334 c.203C>G c.(202-204)tCg>tGg p.S68W NM_001040061.2 NP_001035150.1 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 68 large_intestine(1)|lung(3) 4 GTCCGGCATTCGAAGGCTCAG 0.577000 39 39 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21856246 21856246 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:21856246C>A ENST00000328843.6 + 65 10546 c.10515C>A c.(10513-10515)ccC>ccA p.P3505P DNAH11_ENST00000409508.3_Silent_p.P3498P Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3505 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P3505P(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGATAGATCCCCAGCAACAGG 0.488000 Kartagener syndrome 14 28 4.14922e-12 6.03816e-12 1 1 0 FANCM 57697 broad.mit.edu 37 14 45605157 45605157 + Translation_Start_Site SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:45605157G>A ENST00000267430.5 + 0 8 FANCM_ENST00000556036.1_De_novo_Start_OutOfFrame|FANCM_ENST00000542564.2_5'UTR NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAAGGAAACCGATGGGGATCG 0.532000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 39 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324822 150324822 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:150324822C>A ENST00000328902.5 - 3 1080 c.864G>T c.(862-864)ggG>ggT p.G288G GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding p.G288G(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTCAGCCTTCCCCAGCAGGC 0.582000 16 77 1.15088e-07 1.48424e-07 1 1 0 PCED1B 91523 broad.mit.edu 37 12 47629773 47629773 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:47629773C>A ENST00000546455.1 + 4 1658 c.927C>A c.(925-927)cgC>cgA p.R309R PCED1B_ENST00000432328.1_Silent_p.R309R PC-esterase domain containing 1B caccccagcgcttgccgctgc 0.647000 20 40 4.35082e-09 5.88501e-09 1 1 0 TRIO 7204 broad.mit.edu 37 5 14481375 14481375 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:14481375G>T ENST00000344204.4 + 44 6393 c.6369G>T c.(6367-6369)ctG>ctT p.L2123L TRIO_ENST00000537187.1_Silent_p.L2123L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2123 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGGCCAGCCTGGATACATCAG 0.468000 22 277 3.62473e-10 5.02093e-10 1 1 0 SNX7 51375 broad.mit.edu 37 1 99161072 99161072 + Splice_Site SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:99161072A>T ENST00000370189.5 + 6 811 c.e6-1 SNX7_ENST00000529992.1_Splice_Site|SNX7_ENST00000306121.3_Splice_Site Q9UNH6 SNX7_HUMAN sorting nexin 7 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTTTGTTTCTAGGAACTCTCT 0.393000 18 45 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143098433 143098433 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:143098433C>A ENST00000275815.3 - 3 502 c.416G>T c.(415-417)cGg>cTg p.R139L NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 139 integral to plasma membrane ATP binding|ephrin receptor activity p.R139Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GAACAAGGGCCGTCGGAGCTG 0.587000 11 94 1.58986e-06 1.92742e-06 1 1 0 MYF5 4617 broad.mit.edu 37 12 81112716 81112716 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:81112716G>T ENST00000228644.3 + 3 806 c.654G>T c.(652-654)gaG>gaT p.E218D NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 218 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCTCCTCAGAGCAACCTGGGT 0.493000 29 65 9.80776e-20 1.62665e-19 1 1 0 FAT3 120114 broad.mit.edu 37 11 92531031 92531031 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:92531031C>A ENST00000298047.6 + 9 4869 c.4852C>A c.(4852-4854)Ccg>Acg p.P1618T FAT3_ENST00000409404.2_Missense_Mutation_p.P1618T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1468T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1618 Cadherin 15. 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) TAAGATCGAACCGGTCCTAGG 0.418000 TCGA Ovarian(4;0.039) 21 109 2.21704e-12 3.23895e-12 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238283178 238283178 + Missense_Mutation SNP C C T rs144976132 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:238283178C>T ENST00000295550.4 - 8 4008 c.3556G>A c.(3556-3558)Gtg>Atg p.V1186M COL6A3_ENST00000392004.3_Missense_Mutation_p.V980M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V579M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V980M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V986M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V980M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V985M|COL6A3_ENST00000392003.2_Missense_Mutation_p.V779M NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1186 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAATGGCCACGGCAAAGTCC 0.622000 7 52 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33603268 33603268 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:33603268G>T ENST00000389232.4 + 1 92 c.22G>T c.(22-24)Ggc>Tgc p.G8C RYR3_ENST00000415757.3_Missense_Mutation_p.G8C NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 8 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) GGGAGAAGGAGGCGAGGACGA 0.741000 7 17 3.09899e-07 3.92888e-07 1 1 0 PPRC1 23082 broad.mit.edu 37 10 103906433 103906433 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:103906433C>T ENST00000278070.2 + 9 3723 c.3684C>T c.(3682-3684)ctC>ctT p.L1228L PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.L195L|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCACAGGGCTCACCCCTCCAG 0.577000 36 93 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175912 140175912 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:140175912T>A ENST00000526136.1 + 1 1363 c.1363T>A c.(1363-1365)Ttc>Atc p.F455I PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.F455I|PCDHA2_ENST00000378132.1_Missense_Mutation_p.F455I NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCCGGCGTTCGCACAGCC 0.652000 28 62 0 0 1 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841503 208841503 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:208841503G>C ENST00000457206.1 - 3 1845 c.1418C>G c.(1417-1419)cCc>cGc p.P473R PLEKHM3_ENST00000427836.2_Missense_Mutation_p.P473R|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.P473R Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 473 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTGATCCTTGGGTTTGTTCCT 0.502000 7 43 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480527 123480527 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:123480527A>C ENST00000529750.1 + 12 1580 c.1253A>C c.(1252-1254)aAg>aCg p.K418T GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K109T|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K418T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K425T NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 418 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCATGGAAAAAGGAGGAGAAT 0.527000 3 17 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77942393 77942393 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:77942393G>T ENST00000393684.3 - 8 1388 c.997C>A c.(997-999)Cag>Aag p.Q333K ISM2_ENST00000342219.4_Missense_Mutation_p.Q421K|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.Q340K|ISM2_ENST00000412904.1_Missense_Mutation_p.Q340K Q6H9L7 ISM2_HUMAN isthmin 2 421 TSP type-1. extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 CGCAGCATCTGGCTCAGATAC 0.602000 17 45 6.94344e-10 9.52972e-10 1 1 0 PCF11 51585 broad.mit.edu 37 11 82877481 82877481 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:82877481G>T ENST00000298281.4 + 5 1994 c.1542G>T c.(1540-1542)tcG>tcT p.S514S NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 514 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex p.S514S(1)|p.S613S(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CTCCAACATCGACACCTAAAG 0.448000 38 117 8.16277e-20 1.35986e-19 1 1 0 USH2A 7399 broad.mit.edu 37 1 216465522 216465522 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:216465522G>A ENST00000366943.2 - 10 2221 c.1835C>T c.(1834-1836)aCt>aTt p.T612I USH2A_ENST00000366942.3_Missense_Mutation_p.T612I|USH2A_ENST00000307340.3_Missense_Mutation_p.T612I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 612 Laminin EGF-like 2. 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) CTTACCTGTAGTGTTATGCTC 0.383000 HNSCC(13;0.011) 33 121 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712470 32712470 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:32712470C>A ENST00000265074.8 + 1 931 c.588C>A c.(586-588)caC>caA p.H196Q NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.H196Q NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 196 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GCCACCACCACTGGAGCCGCG 0.642000 9 111 5.68852e-11 8.07404e-11 1 1 0 PSMB11 122706 broad.mit.edu 37 14 23511515 23511515 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:23511515G>T ENST00000408907.2 + 1 140 c.81G>T c.(79-81)tgG>tgT p.W27C NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) CTGGCGGCTGGGCTGTGCCCC 0.642000 7 113 2.0095e-06 2.42828e-06 1 1 0 ANK1 286 broad.mit.edu 37 8 41530184 41530184 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:41530184G>T ENST00000396942.1 - 38 4867 c.4784C>A c.(4783-4785)gCc>gAc p.A1595D ANK1_ENST00000265709.8_Missense_Mutation_p.A1636D|ANK1_ENST00000379758.2_Missense_Mutation_p.A1595D|ANK1_ENST00000289734.7_Missense_Mutation_p.A1595D|ANK1_ENST00000396945.1_Missense_Mutation_p.A1595D|ANK1_ENST00000347528.4_Missense_Mutation_p.A1595D|ANK1_ENST00000352337.4_Missense_Mutation_p.A1595D P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1595 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGACCTGTGGCATCAGAGTC 0.597000 77 83 1.25089e-41 2.26006e-41 1 1 0 WASF1 8936 broad.mit.edu 37 6 110434599 110434599 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:110434599G>T ENST00000392589.1 - 5 1034 c.198C>A c.(196-198)gtC>gtA p.V66V WASF1_ENST00000392588.1_Silent_p.V66V|WASF1_ENST00000392586.1_Silent_p.V66V|WASF1_ENST00000359451.2_Silent_p.V66V|WASF1_ENST00000392587.2_Silent_p.V66V NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 66 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GCAATGAGTTGACTCTGAAGG 0.308000 9 18 0.000274275 0.000302147 1 1 0 LPHN2 23266 broad.mit.edu 37 1 82421638 82421638 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:82421638A>G ENST00000370728.1 + 13 2544 c.1899A>G c.(1897-1899)caA>caG p.Q633Q LPHN2_ENST00000370723.1_Silent_p.Q620Q|LPHN2_ENST00000370725.1_Silent_p.Q633Q|LPHN2_ENST00000370713.1_Silent_p.Q620Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.Q620Q|LPHN2_ENST00000335786.5_Silent_p.Q633Q|LPHN2_ENST00000370717.2_Silent_p.Q633Q|LPHN2_ENST00000359929.3_Silent_p.Q620Q|LPHN2_ENST00000271029.4_Silent_p.Q633Q|LPHN2_ENST00000370727.1_Silent_p.Q633Q|LPHN2_ENST00000370715.1_Silent_p.Q620Q|LPHN2_ENST00000370730.1_Silent_p.Q633Q|LPHN2_ENST00000319517.6_Silent_p.Q620Q|LPHN2_ENST00000370721.1_Silent_p.Q558Q O95490 LPHN2_HUMAN latrophilin 2 633 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CTTCTGAACAAGCACATACTG 0.403000 17 99 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130111211 130111211 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:130111211G>T ENST00000373387.4 + 17 1792 c.1440G>T c.(1438-1440)gaG>gaT p.E480D GARNL3_ENST00000314904.5_Missense_Mutation_p.E480D|GARNL3_ENST00000435213.2_Missense_Mutation_p.E458D NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 480 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 AGCCGTGGGAGCCCCAGTGTT 0.522000 25 43 3.28513e-13 4.86589e-13 1 1 0 KLHL14 57565 broad.mit.edu 37 18 30349625 30349625 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:30349625C>A ENST00000359358.4 - 2 1368 c.930G>T c.(928-930)agG>agT p.R310S KLHL14_ENST00000358095.4_Missense_Mutation_p.R310S NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 310 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CCAGGCTCTGCCTGCAGTGCT 0.657000 8 49 0.00448238 0.00472894 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158606521 158606521 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:158606521G>A ENST00000368148.3 - 37 5400 c.5220C>T c.(5218-5220)gaC>gaT p.D1740D SPTA1_ENST00000368147.3_Silent_p.D1740D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1740 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) CTCTCCCATAGTCCTGGGAGC 0.483000 56 145 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42745405 42745405 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:42745405T>A ENST00000409122.2 + 5 2268 c.2126T>A c.(2125-2127)tTa>tAa p.L709* C17orf104_ENST00000409464.1_Nonsense_Mutation_p.L543*|C17orf104_ENST00000359945.3_Nonsense_Mutation_p.L709* NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 709 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 TCCTATGACTTACTTTCTTAT 0.368000 8 16 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126241676 126241676 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:126241676G>C ENST00000394329.3 + 1 4123 c.4110G>C c.(4108-4110)ggG>ggC p.G1370G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1370 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAACACTGGGAGTATTTTTC 0.368000 25 152 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61898026 61898026 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:61898026A>T ENST00000394818.3 + 4 1229 c.1027A>T c.(1027-1029)Act>Tct p.T343S INCENP_ENST00000278849.4_Missense_Mutation_p.T343S NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 343 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TGCCAAGAAGACTGCCGAAGA 0.607000 11 72 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494372 106494372 + RNA SNP G G T rs1065546 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:106494372G>T ENST00000390597.2 - 0 139 AGAAGGTGCAGGTCAGCGTGA 0.552000 16 47 0.0332995 0.033981 1 1 0 IGHA2 3494 broad.mit.edu 37 14 106054725 106054725 + RNA SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:106054725G>T ENST00000390539.2 - 0 7 GGGGCTGGTCGGGGATGCTGG 0.642000 11 66 1.61879e-10 2.27605e-10 1 1 0 RYR1 6261 broad.mit.edu 37 19 38948812 38948812 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:38948812G>A ENST00000355481.4 + 18 2178 c.2047G>A c.(2047-2049)Gtg>Atg p.V683M RYR1_ENST00000359596.3_Missense_Mutation_p.V683M|RYR1_ENST00000360985.3_Missense_Mutation_p.V683M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 683 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCACTTGCGGGTGGGCTGGGC 0.647000 29 59 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180675675 180675675 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:180675675A>T ENST00000357559.4 + 10 1333 c.949A>T c.(949-951)Aga>Tga p.R317* FXR1_ENST00000480918.1_Nonsense_Mutation_p.R304*|FXR1_ENST00000305586.7_Nonsense_Mutation_p.R232*|FXR1_ENST00000445140.2_Nonsense_Mutation_p.R317*|FXR1_ENST00000468861.1_Nonsense_Mutation_p.R232*|FXR1_ENST00000491062.1_Nonsense_Mutation_p.R268* NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 317 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GGTTCGAGTGAGAATTGAAGG 0.318000 42 55 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086401 92086401 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:92086401A>T ENST00000298047.6 + 1 1140 c.1123A>T c.(1123-1125)Aga>Tga p.R375* FAT3_ENST00000409404.2_Nonsense_Mutation_p.R375*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R225*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R375* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 375 Cadherin 3. 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) TGTCCCCATTAGATTTGAAAA 0.418000 TCGA Ovarian(4;0.039) 12 37 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839516 128839516 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:128839516C>T ENST00000310343.9 - 22 5549 c.5550G>A c.(5548-5550)ccG>ccA p.P1850P ARHGAP32_ENST00000392657.3_Silent_p.P1501P|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.P1501P NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1850 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ATGGCTTCTCCGGCTGCGTGC 0.607000 10 74 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27550111 27550111 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:27550111C>A ENST00000359541.2 - 18 2879 c.2450G>T c.(2449-2451)cGc>cTc p.R817L GTF3C2_ENST00000264720.3_Missense_Mutation_p.R817L Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 817 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCTGCATGCGCAGCATTGG 0.507000 5 39 1.23904e-05 1.46414e-05 1 1 0 FLG2 388698 broad.mit.edu 37 1 152327665 152327665 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:152327665C>T ENST00000388718.5 - 3 2669 c.2597G>A c.(2596-2598)gGa>gAa p.G866E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 866 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGATGTCTGTCCCGAACTTGA 0.493000 176 544 0 0 1 0 0 FAM221A 340277 broad.mit.edu 37 7 23728907 23728907 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:23728907G>T ENST00000344962.4 + 3 348 c.259G>T c.(259-261)Gac>Tac p.D87Y FAM221A_ENST00000409653.1_Missense_Mutation_p.D29Y|FAM221A_ENST00000409994.3_Missense_Mutation_p.D29Y|FAM221A_ENST00000409192.3_Missense_Mutation_p.D87Y NM_199136.3 NP_954587.2 A4D161 CG046_HUMAN family with sequence similarity 221, member A 87 ACATAAAACTGACTTGGAAGC 0.398000 24 71 8.24728e-16 1.2852e-15 1 1 0 GTF2I 2969 broad.mit.edu 37 7 74133245 74133245 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:74133245G>A ENST00000324896.4 + 12 1317 c.928G>A c.(928-930)Gag>Aag p.E310K AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Intron|GTF2I_ENST00000353920.4_Missense_Mutation_p.E290K|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Intron NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 310 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 CCCTGAAGTTGAGGTGACTAT 0.318000 4 26 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202127 140202127 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:140202127G>T ENST00000529859.1 + 1 767 c.767G>T c.(766-768)aGt>aTt p.S256I PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S256I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S256I|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGCACCAAGTGGGACATTA 0.358000 30 58 2.42023e-17 3.89319e-17 1 1 0 CSN2 1447 broad.mit.edu 37 4 70823394 70823394 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:70823394C>A ENST00000353151.3 - 5 284 c.273G>T c.(271-273)ctG>ctT p.L91L NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 91 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GAGGGACAGGCAGCACCACAG 0.483000 16 114 1.99824e-07 2.55501e-07 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18868817 18868817 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:18868817C>T ENST00000406451.3 + 18 2497 c.2347C>T c.(2347-2349)Cac>Tac p.H783Y HDAC9_ENST00000441542.2_Missense_Mutation_p.H786Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.H742Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H783Y NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 783 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CCCTGGCCATCACGCTGAAGA 0.527000 15 104 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446863 10446863 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:10446863A>G ENST00000326756.3 - 3 1528 c.1090T>C c.(1090-1092)Ttt>Ctt p.F364L NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TCCAGCGGAAACAGTTTCAGA 0.423000 46 148 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71252771 71252771 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:71252771C>T ENST00000395275.2 - 7 1163 c.775G>A c.(775-777)Ggc>Agc p.G259S CALN1_ENST00000329008.5_Missense_Mutation_p.G217S|CALN1_ENST00000412588.1_Missense_Mutation_p.G259S|CALN1_ENST00000431984.1_Missense_Mutation_p.G217S|CALN1_ENST00000405452.2_Missense_Mutation_p.G217S|CALN1_ENST00000395276.2_Missense_Mutation_p.G217S NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 217 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TACTCCATGCCGCTCCGGAGT 0.592000 11 31 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85277694 85277694 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:85277694C>G ENST00000450363.3 - 5 1158 c.700G>C c.(700-702)Gct>Cct p.A234P SLC6A15_ENST00000266682.5_Missense_Mutation_p.A234P|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.A127P NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 234 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 ACCCAGGCAGCCAACAAGCAG 0.443000 8 22 0 0 1 0 0 STMN2 11075 broad.mit.edu 37 8 80577088 80577088 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:80577088C>T ENST00000220876.7 + 5 901 c.519C>T c.(517-519)ctC>ctT p.L173L STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.L162L NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 173 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) ACAAGGAACTCCAGGTTGAAC 0.498000 10 34 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133792462 133792462 + Splice_Site SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:133792462A>T ENST00000321016.8 - 16 2512 c.e16+1 IGSF9B_ENST00000533871.2_Splice_Site Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 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) ACAGACACCCACCTTTTTTGC 0.557000 4 28 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511514 23511514 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:23511514G>C ENST00000408907.2 + 1 139 c.80G>C c.(79-81)tGg>tCg p.W27S NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GCTGGCGGCTGGGCTGTGCCC 0.637000 6 113 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76421479 76421479 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:76421479G>T ENST00000389840.5 - 80 13282 c.13158C>A c.(13156-13158)gaC>gaA p.D4386E DNAH17_ENST00000585328.1_Missense_Mutation_p.D4358E|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGCGGTCATGTCCTCTCGGT 0.567000 13 86 6.21321e-17 9.86727e-17 1 1 0 IGHV3-73 28409 broad.mit.edu 37 14 107211181 107211181 + RNA SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:107211181G>C ENST00000390636.2 - 0 187 AGAGTTTCAGGGACCCCCCAG 0.622000 36 141 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409749 159409749 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:159409749C>A ENST00000423932.3 + 1 238 c.201C>A c.(199-201)caC>caA p.H67Q RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 67 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TTCATCTTCACACACCCATGT 0.453000 46 119 1.15183e-24 1.97156e-24 1 1 0 ATP5E 514 broad.mit.edu 37 20 57605379 57605379 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:57605379C>T ENST00000243997.3 - 2 268 c.138G>A c.(136-138)gtG>gtA p.V46V ATP5E_ENST00000395659.1_Silent_p.V46V|ATP5E_ENST00000395663.1_Silent_p.V46V NM_006886.3 NP_008817.1 P56381 ATP5E_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 46 respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) TCTTTACTTTCACAATTTTTA 0.348000 8 55 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219563383 219563383 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:219563383G>T ENST00000295709.3 + 26 3395 c.3116G>T c.(3115-3117)cGc>cTc p.R1039L STK36_ENST00000440309.1_Missense_Mutation_p.R1039L|STK36_ENST00000392106.2_Missense_Mutation_p.R1018L|STK36_ENST00000392105.3_Missense_Mutation_p.R1018L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1039 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTTCTCACACGCCTGGCCCTC 0.537000 54 190 5.22555e-25 8.98555e-25 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141526889 141526889 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:141526889G>A ENST00000389484.3 - 35 6622 c.5651C>T c.(5650-5652)tCt>tTt p.S1884F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1884 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCATGAACAGAGTACATAAG 0.388000 TSP Lung(27;0.18) 19 51 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23876424 23876424 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:23876424A>G ENST00000405093.3 - 3 79 c.9T>C c.(7-9)gaT>gaC p.D3D MYH6_ENST00000356287.3_Silent_p.D3D NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 3 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCATCTGGGCATCGGTCATCT 0.617000 17 115 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411594 51411594 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:51411594T>C ENST00000319760.6 - 1 854 c.802A>G c.(802-804)Atg>Gtg p.M268V NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AACACAGTCATGAACTTATCA 0.368000 11 76 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23405513 23405513 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:23405513C>A ENST00000418100.1 - 4 1651 c.1534G>T c.(1534-1536)Ggc>Tgc p.G512C endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 AAAGCTTTGCCACATTCTTTA 0.373000 17 28 1.99824e-07 2.55501e-07 1 1 0 PCSK7 9159 broad.mit.edu 37 11 117100470 117100470 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:117100470G>T ENST00000320934.3 - 3 721 c.91C>A c.(91-93)Ctg>Atg p.L31M NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 31 peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) CAGGGAACCAGTAAGAAGAGC 0.652000 T IGH@ MLCLS 14 37 7.93312e-07 9.75983e-07 1 1 0 TBX21 30009 broad.mit.edu 37 17 45822141 45822141 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:45822141C>A ENST00000177694.1 + 6 1228 c.1017C>A c.(1015-1017)atC>atA p.I339I NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 339 I -> V (in dbSNP:rs12721471). lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACACCAGCATCCCCTCCCCGC 0.527000 37 151 1.69901e-12 2.48701e-12 1 1 0 PROKR2 128674 broad.mit.edu 37 20 5294979 5294979 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:5294979T>G ENST00000546004.1 - 2 283 c.37A>C c.(37-39)Aac>Cac p.N13H PROKR2_ENST00000217270.3_Missense_Mutation_p.N13H Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 13 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GGATTAAAGTTGGGTGTGAAA 0.512000 HNSCC(71;0.22) 16 67 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958141 143958141 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:143958141C>T ENST00000292427.4 - 4 788 c.756G>A c.(754-756)gtG>gtA p.V252V CYP11B1_ENST00000377675.3_Silent_p.V323V|CYP11B1_ENST00000517471.1_Silent_p.V252V NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 252 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) GCTCCTTCCACACCTTGGGGC 0.602000 Familial Hyperaldosteronism type I 4 38 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653807 89653807 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:89653807G>T ENST00000371953.3 + 2 1462 c.105G>T c.(103-105)atG>atT p.M35I NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 35 Phosphatase tensin-type. M -> R (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.A34_G36del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTATTGCTATGGGATTTCCTG 0.284000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 18 51 2.48551e-13 3.7035e-13 1 1 0 TRPV6 55503 broad.mit.edu 37 7 142573593 142573593 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:142573593G>C ENST00000359396.3 - 7 1072 c.827C>G c.(826-828)aCt>aGt p.T276S RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 276 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GTCATAGAGAGTCGAGGTCAG 0.527000 22 101 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130710649 130710649 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:130710649C>T ENST00000373095.1 - 5 834 c.459G>A c.(457-459)aaG>aaA p.K153K FAM102A_ENST00000373084.4_Silent_p.K11K|FAM102A_ENST00000300434.3_Intron NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 153 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GCACTCACGTCTTGAAGCAGG 0.617000 18 54 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21542500 21542500 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:21542500A>T ENST00000298694.4 + 3 738 c.611A>T c.(610-612)gAa>gTa p.E204V ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E204V Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 204 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CTGCCCCCAGAACTGCCCTCT 0.617000 11 36 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679280 176679280 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:176679280G>T ENST00000367662.3 + 11 4783 c.3619G>T c.(3619-3621)Gtt>Ttt p.V1207F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1207 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAAGTGTCCTGTTTCCTTGGT 0.463000 42 81 1.8453e-21 3.12281e-21 1 1 0 GIMAP6 474344 broad.mit.edu 37 7 150324823 150324823 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:150324823C>A ENST00000328902.5 - 3 1079 c.863G>T c.(862-864)gGg>gTg p.G288V GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCAGCCTTCCCCAGCAGGCA 0.587000 17 77 1.99824e-07 2.55501e-07 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41561050 41561050 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr21:41561050C>A ENST00000400454.1 - 12 2949 c.2472G>T c.(2470-2472)gaG>gaT p.E824D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 824 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGATTCGGTCCTCCTTCTCCC 0.517000 38 93 1.67305e-13 2.50789e-13 1 1 0 CHRNG 1146 broad.mit.edu 37 2 233406100 233406100 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:233406100G>A ENST00000389494.3 + 5 388 c.367G>A c.(367-369)Gag>Aag p.E123K CHRNG_ENST00000389492.3_Intron NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 123 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity p.E123K(1) breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CGGTGTCTTCGAGGTGGCCCT 0.637000 13 123 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40690377 40690377 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:40690377G>C ENST00000225927.2 + 3 653 c.552G>C c.(550-552)ctG>ctC p.L184L RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 184 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTTGGGCCTGACCCAGGCAG 0.527000 16 196 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282496 71282496 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:71282496C>T ENST00000335793.3 - 2 538 c.144G>A c.(142-144)ggG>ggA p.G48G CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.G48G Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 48 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) AGGAGGTGTCCCCAAAGGCGT 0.647000 7 58 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238727007 238727007 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:238727007G>A ENST00000316997.4 + 3 1580 c.1448G>A c.(1447-1449)aGg>aAg p.R483K RBM44_ENST00000409864.1_Missense_Mutation_p.R483K|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 482 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ACAACCAGCAGGGCAACAAGT 0.388000 5 54 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133906086 133906086 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:133906086C>G ENST00000220616.4 + 11 2953 c.2913C>G c.(2911-2913)ggC>ggG p.G971G TG_ENST00000377869.1_Silent_p.G971G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 971 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGACCTCGGCCTTCCTCCGC 0.592000 30 75 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105641938 105641938 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:105641938A>T ENST00000542731.1 + 7 852 c.744A>T c.(742-744)gaA>gaT p.E248D CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.E160D|CDHR3_ENST00000317716.9_Missense_Mutation_p.E248D|CDHR3_ENST00000541203.1_Missense_Mutation_p.N149I Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 248 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 TCCTGGAGGAACTGAGTCCAG 0.517000 37 103 0 0 1 0 0 TRAV7 28686 broad.mit.edu 37 14 22251630 22251630 + RNA SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:22251630C>G ENST00000390429.3 + 0 247 GAAAGGAAGACTAAATGCTAC 0.428000 11 49 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52905960 52905960 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:52905960T>A ENST00000261844.7 - 3 263 c.111A>T c.(109-111)gtA>gtT p.V37V FAM214A_ENST00000546305.2_Silent_p.V44V NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 37 TTCGACCTTTTACAGAACATT 0.428000 4 31 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109695399 109695399 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:109695399A>G ENST00000465301.2 + 3 1800 c.1554A>G c.(1552-1554)acA>acG p.T518T RGAG1_ENST00000540313.1_Silent_p.T518T NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 518 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TTACGGCAACAGCCTCTGAAA 0.512000 42 91 0 0 1 0 0 FAM71C 196472 broad.mit.edu 37 12 100042361 100042361 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:100042361C>G ENST00000324341.1 + 1 831 c.409C>G c.(409-411)Cag>Gag p.Q137E ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 137 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CGTAAAAAAACAGCTCCACCT 0.468000 25 68 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887787 25887787 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:25887787G>C ENST00000376351.3 + 11 3591 c.3232G>C c.(3232-3234)Ggc>Cgc p.G1078R GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1078 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAGAGCCAAGGCCAGTCCAT 0.493000 24 109 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086904 9086904 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:9086904C>T ENST00000397910.4 - 1 5114 c.4911G>A c.(4909-4911)ggG>ggA p.G1637G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1637 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TACTACTGCTCCCTGTTGTTG 0.498000 46 88 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123785874 123785874 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:123785874G>T ENST00000422452.2 - 8 1532 c.1469C>A c.(1468-1470)tCg>tAg p.S490* TENM1_ENST00000371130.3_Nonsense_Mutation_p.S490* NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTCCTGAAGCGAAGTTAAGAT 0.428000 27 45 1.08971e-26 1.90445e-26 1 1 0 EPC1 80314 broad.mit.edu 37 10 32594782 32594782 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:32594782T>A ENST00000319778.6 - 2 533 c.231A>T c.(229-231)ccA>ccT p.P77P EPC1_ENST00000375110.2_Silent_p.P27P|EPC1_ENST00000263062.8_Silent_p.P77P NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 77 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TTTCTGCCTCTGGGACCGGTA 0.403000 17 43 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3779573 3779573 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:3779573G>A ENST00000310132.6 - 10 1283 c.885C>T c.(883-885)atC>atT p.I295I MATK_ENST00000395040.2_Silent_p.I254I|MATK_ENST00000585778.1_Silent_p.I295I|MATK_ENST00000395045.2_Silent_p.I296I NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 295 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGGTGCAGGATCACGCCCA 0.711000 7 11 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44336399 44336399 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:44336399C>A ENST00000315087.7 - 1 733 c.73G>T c.(73-75)Gcc>Tcc p.A25S ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A25S|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A25S NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 25 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 AAGGCAAAGGCGCAGATGAAG 0.612000 6 56 0.217242 0.218117 1 1 0 ZIC1 7545 broad.mit.edu 37 3 147128840 147128840 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:147128840C>T ENST00000282928.4 + 1 1670 c.941C>T c.(940-942)gCg>gTg p.A314V NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 314 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A314G(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 AAGGTCTTCGCGCGCTCCGAG 0.562000 31 44 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107445 121107445 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:121107445G>T ENST00000295228.3 + 2 1265 c.1219G>T c.(1219-1221)Gcc>Tcc p.A407S NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 407 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GTGCGGCTGCGCCTGACAGTG 0.637000 10 25 1.76689e-08 2.34749e-08 1 1 0 KIAA0196 9897 broad.mit.edu 37 8 126071510 126071510 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:126071510C>A ENST00000318410.7 - 14 2067 c.1718G>T c.(1717-1719)aGg>aTg p.R573M KIAA0196_ENST00000517845.1_Missense_Mutation_p.R425M NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 573 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TGGATTTACCCTTATGCTTTC 0.408000 12 71 1.5842e-08 2.11604e-08 1 1 0 LAMC1 3915 broad.mit.edu 37 1 183093904 183093904 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:183093904G>C ENST00000258341.4 + 14 2797 c.2540G>C c.(2539-2541)gGa>gCa p.G847A NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 847 Laminin EGF-like 8. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCTTGACGGGAGAATGCCTG 0.517000 15 47 0 0 1 0 0 TMEM62 80021 broad.mit.edu 37 15 43446871 43446871 + Splice_Site SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:43446871G>A ENST00000260403.2 + 9 1303 c.1022_splice c.e9-1 p.V342_splice NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 342 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TCATTTTAGAGTCTTGGCCTT 0.378000 6 34 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956473 143956473 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:143956473C>G ENST00000292427.4 - 8 1330 c.1298G>C c.(1297-1299)gGc>gCc p.G433A CYP11B1_ENST00000377675.3_Missense_Mutation_p.G504A|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 433 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) CCTGCCGGAGCCCCTGATGTC 0.632000 Familial Hyperaldosteronism type I 27 90 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139379 3139379 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:3139379C>A ENST00000252463.2 - 5 1978 c.1891G>T c.(1891-1893)Ggc>Tgc p.G631C ZSCAN10_ENST00000575108.1_Missense_Mutation_p.G292C|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G549C NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 631 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GGCCGCTCGCCCGTGTGGCTG 0.706000 8 38 5.18039e-06 6.19989e-06 1 1 0 ZNF263 10127 broad.mit.edu 37 16 3339416 3339416 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:3339416G>A ENST00000574253.1 + 2 720 c.411G>A c.(409-411)tgG>tgA p.W137* ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000219069.5_Missense_Mutation_p.E304K O14978 ZN263_HUMAN zinc finger protein 263 137 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TGAGAACCTGGAAGGTGTTCC 0.532000 30 150 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76657190 76657190 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:76657190T>C ENST00000369950.3 - 14 2074 c.1885A>G c.(1885-1887)Aga>Gga p.R629G IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 629 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTCCCGTTTCTGAAGTTAAGT 0.403000 15 40 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879681 3879681 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:3879681G>T ENST00000315677.3 - 4 983 c.388C>A c.(388-390)Cac>Aac p.H130N DLGAP1_ENST00000515196.2_Missense_Mutation_p.H130N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H130N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H130N|DLGAP1-AS3_ENST00000577649.1_RNA NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 130 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TCGCTGCGGTGCTCCACGGCC 0.677000 31 90 3.99451e-17 6.39806e-17 1 1 0 HTR3B 9177 broad.mit.edu 37 11 113815415 113815415 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:113815415G>C ENST00000260191.2 + 8 1285 c.1028G>C c.(1027-1029)cGa>cCa p.R343P HTR3B_ENST00000537778.1_Missense_Mutation_p.R332P NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 343 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TTGTGCCTTCGAGGGGACACC 0.552000 35 92 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28884908 28884908 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:28884908C>G ENST00000375664.3 + 7 1331 c.722C>G c.(721-723)tCt>tGt p.S241C WAC_ENST00000428935.1_Missense_Mutation_p.S241C|WAC_ENST00000375646.1_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.S286C|WAC_ENST00000347934.4_Intron Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 286 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 AATGGAGCATCTACTTTATCA 0.423000 29 85 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150730964 150730964 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:150730964T>C ENST00000358849.4 + 2 461 c.368T>C c.(367-369)tTt>tCt p.F123S ABCB8_ENST00000477092.1_Missense_Mutation_p.F123S|ABCB8_ENST00000356058.4_Missense_Mutation_p.F160S|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Missense_Mutation_p.F140S|ABCB8_ENST00000498578.1_Missense_Mutation_p.F123S|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Missense_Mutation_p.F123S NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 140 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTGGCAGTTTCTGCACCCC 0.627000 10 50 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70123383 70123383 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:70123383T>C ENST00000388768.2 - 15 1945 c.1619A>G c.(1618-1620)gAg>gGg p.E540G RUFY2_ENST00000602465.1_Missense_Mutation_p.E505G|RUFY2_ENST00000265865.3_Missense_Mutation_p.E95G NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 554 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AAGAGCTTGCTCTTGTTCATG 0.328000 5 14 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520738 52520738 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:52520738C>A ENST00000216286.5 - 4 1068 c.1069_splice c.e4+1 p.E357_splice NID2_ENST00000541773.1_Splice_Site_p.E304_splice NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 357 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GAGATCCTACCCTCTAAAGGC 0.488000 13 84 1 1 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526271 176526271 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:176526271G>T ENST00000367662.3 + 2 1977 c.813G>T c.(811-813)cgG>cgT p.R271R PAPPA2_ENST00000367661.3_Silent_p.R271R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 271 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGCGGGAGCGGCTGCTGCTGC 0.567000 16 44 4.7546e-09 6.41957e-09 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141788 29141788 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:29141788G>C ENST00000377167.2 + 1 478 c.376G>C c.(376-378)Gct>Cct p.A126P NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCGTTATGTAGCTGTGTGTAG 0.453000 71 270 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200438 92200438 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:92200438G>T ENST00000212355.4 - 5 928 c.463C>A c.(463-465)Cat>Aat p.H155N TGFBR3_ENST00000525962.1_Missense_Mutation_p.H155N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H155N|TGFBR3_ENST00000468996.2_5'UTR NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 155 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCATTTCCATGGGGGAAGTTC 0.418000 51 202 9.22156e-22 1.56411e-21 1 1 0 PCDH10 57575 broad.mit.edu 37 4 134073223 134073223 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:134073223G>T ENST00000264360.4 + 1 2754 c.1928G>T c.(1927-1929)cGa>cTa p.R643L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 643 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACAGCACGCCGAGTCCCGGCC 0.667000 16 42 1.5739e-10 2.21709e-10 1 1 0 CADM3 57863 broad.mit.edu 37 1 159163811 159163811 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:159163811T>A ENST00000368125.4 + 5 829 c.672T>A c.(670-672)tcT>tcA p.S224S CADM3_ENST00000368124.4_Silent_p.S258S NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 224 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GATCCACCTCTCAACGCATTG 0.507000 6 81 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52054021 52054021 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:52054021C>A ENST00000340057.1 + 3 444 c.399C>A c.(397-399)ttC>ttA p.F133L NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 133 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) CCAACTCCTTCCGGCTGGAGA 0.597000 12 66 0.00010058 0.000113991 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31815707 31815707 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:31815707A>T ENST00000446923.2 + 9 3233 c.2842A>T c.(2842-2844)Aaa>Taa p.K948* ZEB1_ENST00000361642.5_Nonsense_Mutation_p.K965*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.K964*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.K897*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.K944* NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 964 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TCAATGTGACAAATGTGGAAA 0.413000 12 54 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561848 142561848 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:142561848G>T ENST00000392957.2 + 7 1077 c.290G>T c.(289-291)cGg>cTg p.R97L EPHB6_ENST00000442129.1_Missense_Mutation_p.R97L|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 97 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) TTTGTGGAGCGGCGCGGGGCC 0.657000 25 168 6.36457e-07 7.90814e-07 1 1 0 ZMAT4 79698 broad.mit.edu 37 8 40554910 40554910 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:40554910G>T ENST00000297737.6 - 4 349 c.203C>A c.(202-204)gCc>gAc p.A68D ZMAT4_ENST00000315769.7_Missense_Mutation_p.A68D NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 68 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CACCATGTCGGCATCACTTCC 0.478000 16 26 6.31663e-08 8.30376e-08 1 1 0 PTGFRN 5738 broad.mit.edu 37 1 117492063 117492063 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:117492063G>T ENST00000393203.2 + 4 1229 c.1082G>T c.(1081-1083)cGg>cTg p.R361L NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 361 Ig-like C2-type 3. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TTACTGGTTCGGGATGTTAGC 0.562000 29 91 1.39806e-14 2.15174e-14 1 1 0 NRP2 8828 broad.mit.edu 37 2 206617582 206617582 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:206617582G>A ENST00000360409.3 + 12 2718 c.1927G>A c.(1927-1929)Gga>Aga p.G643R NRP2_ENST00000272849.3_Missense_Mutation_p.G643R|NRP2_ENST00000357785.5_Missense_Mutation_p.G643R|NRP2_ENST00000540841.1_Missense_Mutation_p.G643R|NRP2_ENST00000540178.1_Missense_Mutation_p.G643R|NRP2_ENST00000357118.4_Missense_Mutation_p.G643R|NRP2_ENST00000412873.2_Missense_Mutation_p.G643R NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 643 MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GCTCCCTTCGGGATTCAATTG 0.488000 11 36 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616355 92616355 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:92616355T>A ENST00000298047.6 + 23 12750 c.12733T>A c.(12733-12735)Tcc>Acc p.S4245T FAT3_ENST00000533797.1_Missense_Mutation_p.S580T|FAT3_ENST00000409404.2_Missense_Mutation_p.S4245T|FAT3_ENST00000525166.1_Missense_Mutation_p.S4095T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4245 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) CCAGAGTGACTCCAGGAGCAA 0.677000 TCGA Ovarian(4;0.039) 42 179 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100348950 100348950 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:100348950C>A ENST00000437033.2 - 5 1047 c.544G>T c.(544-546)Gct>Tct p.A182S ADH7_ENST00000476959.1_Missense_Mutation_p.A202S|ADH7_ENST00000482593.1_Missense_Mutation_p.A125S|ADH7_ENST00000209665.4_Missense_Mutation_p.A194S P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 194 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TTAACAGCAGCGCCATATCCA 0.408000 6 45 1.06961e-07 1.39143e-07 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151155508 151155508 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:151155508G>A ENST00000282466.3 - 6 6840 c.6841C>T c.(6841-6843)Ctc>Ttc p.L2281F IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2281 Ig-like C2-type 9. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGGGCTGTGAGGAAAATATTG 0.433000 54 64 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264493 61264493 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:61264493G>T ENST00000344731.5 + 8 1174 c.1072G>T c.(1072-1074)Gcc>Tcc p.A358S SERPINB13_ENST00000269489.5_Missense_Mutation_p.A306S NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 358 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.A358T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TGTCACATCCGCCCCAGGTCA 0.512000 10 70 1.58986e-06 1.92742e-06 1 1 0 GREM2 64388 broad.mit.edu 37 1 240656527 240656527 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:240656527G>T ENST00000318160.4 - 2 515 c.249C>A c.(247-249)agC>agA p.S83R NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 83 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) AGCCCTCCTCGCTCACCGTCT 0.647000 9 102 3.86212e-05 4.45126e-05 1 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238626448 238626448 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:238626448G>T ENST00000308482.9 + 4 314 c.245G>T c.(244-246)tGg>tTg p.W82L LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 51 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) ATCGAGCAGTGGATGGTAGGC 0.358000 25 130 3.80469e-20 6.36669e-20 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8340382 8340382 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:8340382G>T ENST00000381196.4 - 39 5757 c.5214C>A c.(5212-5214)acC>acA p.T1738T PTPRD_ENST00000397617.3_Silent_p.T1331T|PTPRD_ENST00000358503.5_Silent_p.T1716T|PTPRD_ENST00000540109.1_Silent_p.T1738T|PTPRD_ENST00000360074.4_Silent_p.T1725T|PTPRD_ENST00000486161.1_Silent_p.T1331T|PTPRD_ENST00000537002.1_Silent_p.T1328T|PTPRD_ENST00000356435.5_Silent_p.T1738T|PTPRD_ENST00000355233.5_Silent_p.T1332T|PTPRD_ENST00000397606.3_Silent_p.T1331T|PTPRD_ENST00000397611.3_Silent_p.T1328T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1738 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCACAACTATGGTGGAATTGT 0.498000 TSP Lung(15;0.13) 7 36 0.00198382 0.00210781 1 1 0 NDUFAF5 79133 broad.mit.edu 37 20 13782241 13782241 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:13782241G>T ENST00000378106.5 + 7 748 c.629G>T c.(628-630)gGa>gTa p.G210V NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.G182V NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 210 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity GAAAGGGAAGGAGGATTTTCT 0.448000 18 50 3.41278e-10 4.73611e-10 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34276467 34276467 + Splice_Site SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:34276467T>A ENST00000373381.4 - 10 1501 c.e10-2 CSMD2_ENST00000338325.1_Splice_Site NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACATGCGGGCTGCAGAGGAGA 0.532000 11 85 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281931 152281931 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:152281931C>G ENST00000368799.1 - 3 5466 c.5431G>C c.(5431-5433)Gac>Cac p.D1811H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1811 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAATGGTGTCCTGACCCTCT 0.597000 Ichthyosis 38 708 0 0 1 0 0 SPRED1 161742 broad.mit.edu 37 15 38632064 38632064 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:38632064A>G ENST00000299084.4 + 5 1410 c.550A>G c.(550-552)Aga>Gga p.R184G NM_152594.2 NP_689807.1 Q7Z699 SPRE1_HUMAN sprouty-related, EVH1 domain containing 1 184 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TCTGAATGCCAGAAGAGTCTA 0.373000 Legius syndrome 14 34 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68200218 68200218 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:68200218T>C ENST00000262215.3 - 7 1388 c.999A>G c.(997-999)gtA>gtG p.V333V NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 333 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCATTTCTTCTACAATGTTCT 0.323000 30 111 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155250852 155250852 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:155250852G>T ENST00000357232.3 - 11 2375 c.2376C>A c.(2374-2376)atC>atA p.I792I DCHS2_ENST00000339452.1_Silent_p.I1247I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 792 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCACCCAATTGATTAACTCTC 0.552000 8 49 0.000442599 0.000484012 1 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24878202 24878202 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:24878202T>C ENST00000396432.2 - 25 4666 c.4180A>G c.(4180-4182)Aag>Gag p.K1394E ARHGAP21_ENST00000320481.6_3'UTR NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1393 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CAATTTACCTTAGATTTTGTT 0.318000 18 49 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103345895 103345895 + Missense_Mutation SNP C C A rs141683033 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:103345895C>A ENST00000370162.3 - 3 628 c.134G>T c.(133-135)cGg>cTg p.R45L POLL_ENST00000299206.4_Missense_Mutation_p.R45L|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.R45L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370172.1_5'UTR|POLL_ENST00000339310.3_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 45 BRCT. DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) AACATGGGCCCGAAGGGAGCT 0.537000 DNA polymerases (catalytic subunits) 7 43 0.000673444 0.000732175 1 1 0 DDX41 51428 broad.mit.edu 37 5 176943349 176943349 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:176943349C>T ENST00000507955.1 - 3 761 c.238G>A c.(238-240)Ggc>Agc p.G80S DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 80 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GACTGAGGGCCTAGCGGGATG 0.612000 45 67 0 0 1 0 0 TM6SF1 53346 broad.mit.edu 37 15 83790720 83790720 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:83790720T>A ENST00000322019.9 + 5 720 c.446T>A c.(445-447)aTg>aAg p.M149K TM6SF1_ENST00000565774.1_Missense_Mutation_p.M149K|TM6SF1_ENST00000379386.4_Missense_Mutation_p.M152K|TM6SF1_ENST00000379390.6_Missense_Mutation_p.M149K Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 149 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TCTATTATTATGAGTGTTGTT 0.318000 23 82 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509209 106509209 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:106509209C>G ENST00000359195.3 + 2 1513 c.1203C>G c.(1201-1203)ccC>ccG p.P401P PIK3CG_ENST00000440650.2_Silent_p.P401P|PIK3CG_ENST00000496166.1_Silent_p.P401P NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 401 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GAACCAGCCCCAAACCCTTCA 0.502000 8 75 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15349879 15349879 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:15349879C>A ENST00000333590.4 - 2 258 c.174G>T c.(172-174)caG>caT p.Q58H PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 58 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) CAATCAGGCACTGAGAGAGCT 0.428000 22 36 4.35082e-09 5.88501e-09 1 1 0 RYR2 6262 broad.mit.edu 37 1 237494244 237494244 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:237494244C>A ENST00000360064.6 + 4 228 c.228C>A c.(226-228)tgC>tgA p.C76* RYR2_ENST00000542537.1_Missense_Mutation_p.Q63K|RYR2_ENST00000366574.2_Missense_Mutation_p.Q79K Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 0 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) CCGGGCGCTGCAGGAGATGCT 0.502000 19 65 0.000229342 0.000256808 1 1 0 C15orf59 388135 broad.mit.edu 37 15 74043389 74043389 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:74043389C>T ENST00000569673.1 - 2 1287 c.83G>A c.(82-84)cGc>cAc p.R28H C15orf59_ENST00000379822.4_Missense_Mutation_p.R28H Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 28 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CATCTTCATGCGCTGTCGAAT 0.642000 14 90 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498822 142498822 + RNA SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:142498822C>A ENST00000466254.1 + 0 98 TGTGCCTGGCCACAGGCTTCT 0.607000 7 90 0.0381472 0.0388219 1 1 0 NPHS1 4868 broad.mit.edu 37 19 36321981 36321981 + Missense_Mutation SNP G G A rs143145248 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:36321981G>A ENST00000378910.5 - 27 3454 c.3455C>T c.(3454-3456)aCg>aTg p.T1152M NPHS1_ENST00000353632.6_Missense_Mutation_p.T1112M NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1152 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCTCCTGCGTCGGGGGCAG 0.587000 47 87 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140317 3140317 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:3140317C>A ENST00000252463.2 - 5 1040 c.953G>T c.(952-954)gGg>gTg p.G318V ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G236V NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 318 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GAAGGAGCGCCCAGCCGGGTG 0.672000 7 61 8.12818e-05 9.23994e-05 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671294 49671294 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:49671294T>C ENST00000561648.1 - 4 1822 c.1769A>G c.(1768-1770)aAc>aGc p.N590S ZNF423_ENST00000562871.1_Missense_Mutation_p.N530S|ZNF423_ENST00000535559.1_Missense_Mutation_p.N473S|ZNF423_ENST00000567169.1_Missense_Mutation_p.N473S|ZNF423_ENST00000563137.2_Missense_Mutation_p.N530S|ZNF423_ENST00000562520.1_Missense_Mutation_p.N530S|ZNF423_ENST00000262383.2_Missense_Mutation_p.N590S NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 590 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) CAGTGGAATGTTCTTGTGGTT 0.572000 21 78 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401191 55401191 + Missense_Mutation SNP G G A rs149025092 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:55401191G>A ENST00000355524.3 + 5 836 c.826G>A c.(826-828)Gga>Aga p.G276R FCAR_ENST00000391724.3_Missense_Mutation_p.G242R|FCAR_ENST00000345937.4_Missense_Mutation_p.G180R|FCAR_ENST00000391726.3_Missense_Mutation_p.G168R|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.G264R|FCAR_ENST00000353758.4_Missense_Mutation_p.G167R|FCAR_ENST00000391725.3_Missense_Mutation_p.G254R|FCAR_ENST00000482092.2_3'UTR NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 276 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) GTGTCAGCCAGGATTGACCTT 0.537000 30 118 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313064 54313064 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:54313064A>G ENST00000324134.6 - 3 2017 c.1849T>C c.(1849-1851)Ttg>Ctg p.L617L NLRP12_ENST00000535162.1_Silent_p.L617L|NLRP12_ENST00000391773.1_Silent_p.L617L|NLRP12_ENST00000391772.1_Silent_p.L617L|NLRP12_ENST00000391775.3_Silent_p.L617L|NLRP12_ENST00000354278.3_Silent_p.L617L|NLRP12_ENST00000351894.4_Silent_p.L617L|NLRP12_ENST00000345770.5_Silent_p.L617L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 617 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) ATCTCGTACAAGCAGCTGAAG 0.567000 29 56 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87407258 87407258 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:87407258C>T ENST00000338056.3 + 9 1405 c.994C>T c.(994-996)Ctt>Ttt p.L332F RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L315F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L315F NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 332 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) AATTGTGGAGCTTCAAGATCA 0.353000 19 53 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43034773 43034773 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:43034773G>T ENST00000316099.3 + 2 280 c.191G>T c.(190-192)gGg>gTg p.G64V HNF4A_ENST00000415691.1_Missense_Mutation_p.G64V|HNF4A_ENST00000457232.1_Missense_Mutation_p.G42V|HNF4A_ENST00000443598.2_Missense_Mutation_p.G64V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 64 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCATCTGCGGGGACCGGGCC 0.642000 31 109 1.75199e-13 2.62097e-13 1 1 0 TAF1C 9013 broad.mit.edu 37 16 84212974 84212974 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:84212974C>A ENST00000567759.1 - 14 2365 c.2183G>T c.(2182-2184)cGa>cTa p.R728L TAF1C_ENST00000378541.4_Missense_Mutation_p.R728L|TAF1C_ENST00000566732.1_Missense_Mutation_p.R702L|TAF1C_ENST00000570117.1_Missense_Mutation_p.R396L|TAF1C_ENST00000541676.1_Missense_Mutation_p.R635L|TAF1C_ENST00000341690.6_Missense_Mutation_p.R634L NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 728 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GGCAGCCCCTCGGCCTGCCCA 0.706000 15 17 1.52009e-12 2.23385e-12 1 1 0 TAS2R14 50840 broad.mit.edu 37 12 11091224 11091224 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:11091224G>A ENST00000537503.1 - 1 638 c.583C>T c.(583-585)Ctg>Ttg p.L195L PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 195 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 AACATTGCCAGGGACAAAGTA 0.423000 24 43 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236187502 236187502 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:236187502C>A ENST00000264187.6 - 9 2078 c.1996G>T c.(1996-1998)Gat>Tat p.D666Y NID1_ENST00000366595.3_Missense_Mutation_p.D666Y NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 666 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGAAGAGCATCAGGGGAGCCT 0.547000 8 52 0.000274275 0.000302147 1 1 0 CACNG3 10368 broad.mit.edu 37 16 24372682 24372682 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:24372682A>T ENST00000005284.3 + 4 1648 c.446A>T c.(445-447)aAc>aTc p.N149I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 149 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GGGTTAAGCAACATCATTGGC 0.413000 32 124 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356834 42356834 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:42356834G>T ENST00000554171.1 + 5 3438 c.1006G>T c.(1006-1008)Gtg>Ttg p.V336L LRFN5_ENST00000298119.4_Missense_Mutation_p.V336L|LRFN5_ENST00000554120.1_Missense_Mutation_p.V336L Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 336 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAGATCTCTGGTGTATGATAA 0.453000 HNSCC(30;0.082) 27 95 7.53681e-25 1.29301e-24 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50094639 50094639 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:50094639G>T ENST00000376042.1 + 13 4423 c.4125G>T c.(4123-4125)ttG>ttT p.L1375F CCNB3_ENST00000376038.1_Missense_Mutation_p.L271F|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1375F|CCNB3_ENST00000348603.2_Missense_Mutation_p.L271F Q8WWL7 CCNB3_HUMAN cyclin B3 1375 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TCCCTGCCTTGGATATGTTGA 0.483000 10 21 0.00829132 0.0086498 1 1 0 PEX19 5824 broad.mit.edu 37 1 160249886 160249886 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:160249886C>A ENST00000368072.5 - 6 766 c.745G>T c.(745-747)Gag>Tag p.E249* DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E102*|PEX19_ENST00000440949.3_Nonsense_Mutation_p.E159*|PEX19_ENST00000532508.1_5'UTR NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCACCATCTCAAAACGAGCC 0.493000 105 227 7.73176e-47 1.40714e-46 1 1 0 KIAA1324 57535 broad.mit.edu 37 1 109743477 109743477 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:109743477C>A ENST00000369939.3 + 21 3111 c.2928C>A c.(2926-2928)acC>acA p.T976T KIAA1324_ENST00000529753.1_Silent_p.T889T|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 976 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TCATCTTTACCAGCAAGAAGT 0.542000 OREG0013630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 0.014758 0.0151843 1 1 0 CPZ 8532 broad.mit.edu 37 4 8605802 8605802 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:8605802G>T ENST00000382480.2 + 4 985 c.185G>T c.(184-186)cGg>cTg p.R62L CPZ_ENST00000360986.4_Missense_Mutation_p.R199L|CPZ_ENST00000315782.6_Missense_Mutation_p.R188L|CPZ_ENST00000429646.2_5'UTR NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 199 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTGCTGAGGCGGACGGCCTCC 0.701000 3 10 0.004672 0.00489448 1 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 68 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14769948 14769948 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:14769948C>T ENST00000253697.3 + 12 2145 c.1693C>T c.(1693-1695)Ctg>Ttg p.L565L C3orf20_ENST00000412910.1_Silent_p.L443L|C3orf20_ENST00000435614.1_Silent_p.L443L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 565 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GTTAACAGGTCTGTTTACCAT 0.493000 13 48 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242035504 242035504 + Nonsense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:242035504A>T ENST00000366548.3 + 12 2031 c.1438A>T c.(1438-1440)Aga>Tga p.R480* EXO1_ENST00000518483.1_Nonsense_Mutation_p.R480*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.R480* NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 480 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACCTAGGACGAGAAATAAATT 0.398000 Editing and processing nucleases 28 119 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132938854 132938854 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:132938854A>T ENST00000275191.2 - 1 463 c.356T>A c.(355-357)cTa>cAa p.L119Q TAAR2_ENST00000367931.1_Missense_Mutation_p.L164Q|TAAR2_ENST00000537809.1_Missense_Mutation_p.L119Q NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 164 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) ACATAGAAGTAGCAATCTTTT 0.408000 7 81 0 0 1 0 0 BEX2 84707 broad.mit.edu 37 X 102564882 102564882 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:102564882G>T ENST00000536889.1 - 3 476 c.119C>A c.(118-120)gCg>gAg p.A40E BEX2_ENST00000372677.3_Missense_Mutation_p.A8E|BEX2_ENST00000372674.1_Missense_Mutation_p.A8E NM_001168399.1|NM_001168400.1 NP_001161871.1|NP_001161872.1 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 8 apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle cytoplasm|nucleus endometrium(1)|lung(1)|ovary(1) 3 ATTGTTTAACGCTCGTTCCTC 0.463000 11 17 0.0809354 0.082032 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768313 77768313 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:77768313G>A ENST00000521891.2 + 10 9604 c.9156G>A c.(9154-9156)ccG>ccA p.P3052P ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000518282.1_Silent_p.P3026P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3007 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3036P(2) 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) ACTTGGCTCCGACCACGGTTC 0.507000 HNSCC(33;0.089) 10 109 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104071263 104071263 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:104071263C>A ENST00000388887.2 + 25 2883 c.2679C>A c.(2677-2679)caC>caA p.H893Q NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 893 EGF-like 8. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CGGGCACCCACACCTGCGTGT 0.542000 45 70 9.84934e-19 1.60159e-18 1 1 0 CRTAM 56253 broad.mit.edu 37 11 122738173 122738173 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:122738173A>G ENST00000227348.4 + 8 921 c.874A>G c.(874-876)Acg>Gcg p.T292A CRTAM_ENST00000533709.1_Missense_Mutation_p.T93A NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 292 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) CCTGCTGCTCACGCTGGTGTC 0.413000 6 43 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113650925 113650925 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:113650925C>A ENST00000297405.5 - 21 3770 c.3526_splice c.e21+1 p.E1176_splice CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice|CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1176 CUB 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTTTCTCACCAGAGAATGTT 0.308000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 32 0.000274275 0.000302147 1 1 0 C8orf74 203076 broad.mit.edu 37 8 10557970 10557970 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:10557970G>T ENST00000304519.5 + 4 903 c.874G>T c.(874-876)Gca>Tca p.A292S RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 292 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) GAAAGCGAAGGCAAGGAAGTA 0.622000 6 7 5.9392e-07 7.4042e-07 1 1 0 IFNB1 3456 broad.mit.edu 37 9 21077402 21077402 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:21077402G>T ENST00000380232.2 - 1 541 c.467C>A c.(466-468)gCc>gAc p.A156D NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 156 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) GTACTCCTTGGCCTTCAGGTA 0.433000 40 134 2.59497e-14 3.9613e-14 1 1 0 FZD7 8324 broad.mit.edu 37 2 202900716 202900716 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:202900716G>T ENST00000286201.1 + 1 1407 c.1346G>T c.(1345-1347)cGt>cTt p.R449L NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 449 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 TCCCTCTTCCGTATCCGCACC 0.612000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 95 0.000219431 0.000246079 1 1 0 DEFA4 1669 broad.mit.edu 37 8 6793589 6793589 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:6793589G>C ENST00000297435.2 - 3 371 c.247C>G c.(247-249)Ctc>Gtc p.L83V NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 83 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CCACCAATGAGGCAGTTCCCA 0.512000 10 50 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096328 51096328 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:51096328T>A ENST00000395542.2 - 12 2895 c.2711A>T c.(2710-2712)cAc>cTc p.H904L COBL_ENST00000265136.7_Missense_Mutation_p.H822L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 822 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GCCCTCATGGTGGGCAGACTT 0.642000 17 42 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26885753 26885753 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:26885753C>T ENST00000231021.4 - 11 2024 c.1852G>A c.(1852-1854)Gcg>Acg p.A618T NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 618 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AGTAGAATCGCAACGAGAGCT 0.512000 5 41 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105365611 105365611 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:105365611C>A ENST00000369774.4 - 14 1648 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E293*|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E325*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E430* Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 458 SH3 3. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) GACTGGAATTCGGCAATGGTG 0.542000 OREG0020500 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 44 1.01871e-10 1.44045e-10 1 1 0 MATN4 8785 broad.mit.edu 37 20 43926606 43926606 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:43926606C>G ENST00000537548.1 - 9 1775 c.1531G>C c.(1531-1533)Ggc>Cgc p.G511R MATN4_ENST00000360607.5_Missense_Mutation_p.G470R|MATN4_ENST00000342716.4_Missense_Mutation_p.G511R|MATN4_ENST00000372751.4_Missense_Mutation_p.G362R|MATN4_ENST00000372754.1_Missense_Mutation_p.G552R|MATN4_ENST00000372756.1_Missense_Mutation_p.G511R|MATN4_ENST00000372753.1_Missense_Mutation_p.G362R|MATN4_ENST00000353917.5_Missense_Mutation_p.G429R O95460 MATN4_HUMAN matrilin 4 552 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GTCATGGTGCCGAAGTCCGGG 0.652000 14 37 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36026674 36026674 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:36026674G>T ENST00000373243.2 + 3 1305 c.922G>T c.(922-924)Gcc>Tcc p.A308S NCDN_ENST00000373253.3_Missense_Mutation_p.A291S|NCDN_ENST00000356090.4_Missense_Mutation_p.A308S NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 308 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAAGTTCCTGGCCCTGCTGGT 0.672000 5 22 0.014758 0.0151843 1 1 0 MRPS5 64969 broad.mit.edu 37 2 95753185 95753185 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:95753185C>A ENST00000272418.2 - 12 1418 c.1210G>T c.(1210-1212)Gtc>Ttc p.V404F NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 404 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TCCAGTTTGACGTCTGGAACC 0.567000 13 52 1.49906e-05 1.76582e-05 1 1 0 RYR2 6262 broad.mit.edu 37 1 237880535 237880535 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:237880535G>A ENST00000366574.2 + 72 10678 c.10361G>A c.(10360-10362)cGc>cAc p.R3454H RYR2_ENST00000360064.6_Missense_Mutation_p.R3452H|RYR2_ENST00000542537.1_Missense_Mutation_p.R3438H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3454 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) AAAATGAAGCGCAAAGGAGAT 0.488000 12 20 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67355077 67355077 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:67355077G>A ENST00000396623.3 + 3 173 c.142G>A c.(142-144)Gag>Aag p.E48K ADHFE1_ENST00000496501.1_Intron|ADHFE1_ENST00000379385.4_Missense_Mutation_p.E48K|ADHFE1_ENST00000415254.1_5'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 48 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TTATGCCTTTGAGGTATATTC 0.274000 18 65 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322549 55322549 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:55322549G>T ENST00000314644.2 + 1 767 c.767G>T c.(766-768)aGt>aTt p.S256I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GTCATCAACAGTGGGTTTATC 0.473000 HNSCC(20;0.049) 8 60 1.06961e-07 1.39143e-07 1 1 0 PRLR 5618 broad.mit.edu 37 5 35066174 35066174 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:35066174A>C ENST00000382002.5 - 10 1312 c.886T>G c.(886-888)Ttg>Gtg p.L296V PRLR_ENST00000342362.5_Missense_Mutation_p.L195V|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.L296V|PRLR_ENST00000231423.3_Missense_Mutation_p.L296V|PRLR_ENST00000511486.1_Missense_Mutation_p.L195V NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 296 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGCATCCCAAGGCACTCAGT 0.438000 6 82 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082377 152082377 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:152082377G>C ENST00000368804.1 - 2 3315 c.3316C>G c.(3316-3318)Cgg>Ggg p.R1106G NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1106 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCTCTCCCGCTCCTGGCGC 0.617000 42 193 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648337 57648337 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:57648337G>T ENST00000269834.1 - 4 530 c.145C>A c.(145-147)Caa>Aaa p.Q49K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTTCCCCTTGTCCTGTGATG 0.498000 27 67 2.4375e-19 3.99835e-19 1 1 0 VAC14 55697 broad.mit.edu 37 16 70778352 70778352 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:70778352C>A ENST00000261776.5 - 13 1762 c.1502G>T c.(1501-1503)gGc>gTc p.G501V NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 501 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GCCGGCTCTGCCAGGGGTGGG 0.647000 7 47 1.08611e-07 1.40799e-07 1 1 0 PGLYRP3 114771 broad.mit.edu 37 1 153279556 153279556 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:153279556G>T ENST00000290722.1 - 2 295 c.243C>A c.(241-243)tgC>tgA p.C81* NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 81 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACGCCACGTCGCACCAGCCTA 0.582000 4 28 0.217242 0.218117 1 1 0 ANO2 57101 broad.mit.edu 37 12 5853336 5853336 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:5853336G>T ENST00000327087.8 - 12 1397 c.1326C>A c.(1324-1326)ttC>ttA p.F442L ANO2_ENST00000546188.1_Missense_Mutation_p.F443L|ANO2_ENST00000356134.5_Missense_Mutation_p.F443L Q9NQ90 ANO2_HUMAN anoctamin 2 447 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 ACAGAGCCATGAAGATAGAGA 0.542000 15 41 3.41278e-10 4.73611e-10 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154313336 154313336 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:154313336G>T ENST00000368489.3 + 13 1140 c.1140G>T c.(1138-1140)gaG>gaT p.E380D ATP8B2_ENST00000341822.2_Missense_Mutation_p.E366D|ATP8B2_ENST00000426445.1_3'UTR NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 366 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCAGTGTGGAGGTCATCCGTC 0.607000 39 91 9.14704e-12 1.3234e-11 1 1 0 PNPLA1 285848 broad.mit.edu 37 6 36262158 36262158 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:36262158G>T ENST00000394571.2 + 4 696 c.696G>T c.(694-696)ttG>ttT p.L232F PNPLA1_ENST00000312917.5_Missense_Mutation_p.L146F|PNPLA1_ENST00000388715.3_Missense_Mutation_p.L137F NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 232 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CCCACGCATTGTTCCCCCCGG 0.622000 24 57 5.45727e-16 8.522e-16 1 1 0 DACT1 51339 broad.mit.edu 37 14 59112433 59112433 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:59112433T>A ENST00000395153.3 + 4 1128 c.981T>A c.(979-981)gcT>gcA p.A327A DACT1_ENST00000541264.2_Silent_p.A83A|DACT1_ENST00000335867.4_Silent_p.A364A|DACT1_ENST00000395151.3_Silent_p.A83A|DACT1_ENST00000556859.1_Silent_p.A83A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 364 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCGTGAACGCTGACCCCACGA 0.517000 19 43 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38950710 38950710 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:38950710C>G ENST00000357387.3 - 31 3270 c.3240G>C c.(3238-3240)aaG>aaC p.K1080N RICTOR_ENST00000296782.5_Missense_Mutation_p.K1080N NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1080 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AATTTTTATCCTTTATGGGTC 0.383000 22 559 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72341016 72341016 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:72341016G>T ENST00000389916.4 + 7 837 c.699G>T c.(697-699)cgG>cgT p.R233R NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 233 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 AGCGCAGCCGGGTCAAGAACA 0.692000 12 34 2.27111e-07 2.89402e-07 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56606832 56606832 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:56606832G>T ENST00000336078.4 + 6 3460 c.2684G>T c.(2683-2685)gGc>gTc p.G895V ZNF532_ENST00000591083.1_Missense_Mutation_p.G895V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G895V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G895V NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 895 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CAGCATCCTGGCATCAAGATA 0.428000 19 77 1.96292e-10 2.74956e-10 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212426632 212426632 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:212426632G>T ENST00000342788.4 - 20 2793 c.2483C>A c.(2482-2484)gCt>gAt p.A828D ERBB4_ENST00000436443.1_Missense_Mutation_p.A828D|ERBB4_ENST00000402597.1_Missense_Mutation_p.A818D NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 828 Protein kinase. 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) ACTTACCTTAGCTATCTGGAC 0.393000 TSP Lung(8;0.080) 13 87 0.00136819 0.00146201 1 1 0 CD101 9398 broad.mit.edu 37 1 117568211 117568211 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:117568211G>A ENST00000256652.4 + 8 2567 c.2509G>A c.(2509-2511)Gag>Aag p.E837K CD101_ENST00000369470.1_Missense_Mutation_p.E837K|RP11-27K13.3_ENST00000445523.1_RNA NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 837 Ig-like C2-type 7. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGCAGCCTGGAGAGTGTAGG 0.478000 9 80 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037302 75037302 + Silent SNP C C T rs4366277 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:75037302C>T ENST00000326665.5 - 14 4310 c.4092G>A c.(4090-4092)gaG>gaA p.E1364E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1364 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTCGGCTGTCTCCGAACCTG 0.517000 46 120 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136589451 136589451 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:136589451G>A ENST00000531224.1 - 10 2498 c.2246C>T c.(2245-2247)tCt>tTt p.S749F BCLAF1_ENST00000527759.1_Missense_Mutation_p.S747F|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S749F|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S576F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S747F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S747F NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 749 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGAAGATCGAGAATGATCTTG 0.343000 6 64 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34130564 34130564 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:34130564G>A ENST00000389232.4 + 89 12453 c.12383G>A c.(12382-12384)gGt>gAt p.G4128D RYR3_ENST00000415757.3_Missense_Mutation_p.G4123D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4128 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) GAAATTGCGGGTGAAGAGGAA 0.493000 40 82 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247463969 247463969 + Missense_Mutation SNP C C A rs144745098 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:247463969C>A ENST00000294753.4 - 9 2080 c.1616G>T c.(1615-1617)cGg>cTg p.R539L ZNF496_ENST00000366498.2_Missense_Mutation_p.R575L|ZNF496_ENST00000462139.1_5'UTR NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 539 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) GCTGCGGTGCCGAGCCAGGTG 0.612000 13 119 4.36969e-10 6.0305e-10 1 1 0 ATP5L 10632 broad.mit.edu 37 11 118279722 118279722 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:118279722T>A ENST00000300688.3 + 3 733 c.221T>A c.(220-222)gTg>gAg p.V74E ATP5L_ENST00000524422.1_Intron|ATP5L_ENST00000529770.1_3'UTR NM_006476.4 NP_006467.4 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G 74 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(3) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) CAGGAAGCTGTGCTGAATGGT 0.333000 5 69 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117375441 117375441 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:117375441C>T ENST00000160373.3 - 15 3661 c.3570G>A c.(3568-3570)aaG>aaA p.K1190K NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1190 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGATTTTCTTCTTACTGGGAG 0.338000 8 161 0 0 1 0 0 CRH 1392 broad.mit.edu 37 8 67089250 67089250 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:67089250C>G ENST00000276571.3 - 2 909 c.463G>C c.(463-465)Gag>Cag p.E155Q NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 155 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) GGAGGCTCCTCGGACCGCCTT 0.672000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 27 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58560058 58560058 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:58560058C>T ENST00000348616.4 + 7 1011 c.711C>T c.(709-711)acC>acT p.T237T CDH26_ENST00000244047.5_Silent_p.T237T NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 237 Cadherin 2. 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) CCACATAGACCGCTCCTCAGT 0.433000 8 40 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402858 124402858 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:124402858G>A ENST00000368909.3 + 53 7292 c.7186G>A c.(7186-7188)Gtc>Atc p.V2396I DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000338354.3_Missense_Mutation_p.V2396I NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2396 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTGGACGTCGTCCTGGGTCC 0.647000 18 32 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541528 55541528 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:55541528C>A ENST00000361760.1 + 1 615 c.615C>A c.(613-615)gcC>gcA p.A205A NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTATTATTGCCATATTCAATG 0.383000 25 154 0.000586117 0.000640023 1 1 0 PLCB1 23236 broad.mit.edu 37 20 8609055 8609055 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:8609055G>T ENST00000378641.3 + 4 836 c.361G>T c.(361-363)Gct>Tct p.A121S PLCB1_ENST00000378637.2_Missense_Mutation_p.A121S|PLCB1_ENST00000338037.6_Missense_Mutation_p.A121S NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 121 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GAATCTCGTGGCTTTCCAAGA 0.473000 24 90 7.38237e-10 1.01136e-09 1 1 0 OR9G1 390174 broad.mit.edu 37 11 56468325 56468325 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:56468325C>A ENST00000312153.1 + 1 462 c.462C>A c.(460-462)aaC>aaA p.N154K 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 GCTTTATTAACTCTTCAATCA 0.458000 12 199 0.000978159 0.00105275 1 1 0 LIFR 3977 broad.mit.edu 37 5 38481840 38481840 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:38481840T>A ENST00000263409.4 - 20 3313 c.3151A>T c.(3151-3153)Aac>Tac p.N1051Y LIFR_ENST00000453190.2_Missense_Mutation_p.N1051Y NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1051 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATCTCACTGTTGCTGTCTATG 0.418000 T PLAG1 salivary adenoma 139 126 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62812728 62812728 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:62812728C>A ENST00000512091.1 + 15 3059 c.2312C>A c.(2311-2313)aCa>aAa p.T771K LPHN3_ENST00000504896.1_Missense_Mutation_p.T771K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T839K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.T771K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T771K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T771K|LPHN3_ENST00000514591.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T839K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T771K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T839K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T839K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T839K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T771K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T839K Q9HAR2 LPHN3_HUMAN latrophilin 3 758 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GCTTTGTCCACAAATCATTCT 0.403000 20 200 2.39187e-15 3.71187e-15 1 1 0 RASSF2 9770 broad.mit.edu 37 20 4770300 4770300 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:4770300C>A ENST00000379400.3 - 8 776 c.581G>T c.(580-582)cGc>cTc p.R194L RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R194L NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 194 Ras-associating. cell cycle|signal transduction nucleus protein binding p.R194L(2)|p.R194H(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GCTGTTGATGCGGACGTTGGT 0.547000 11 58 3.07112e-06 3.68731e-06 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31283197 31283197 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:31283197C>G ENST00000544665.3 + 7 659 c.588C>G c.(586-588)ttC>ttG p.F196L ITGAM_ENST00000287497.8_Missense_Mutation_p.F196L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 196 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTGAAGAATTCCGGATTCACT 0.557000 16 45 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354208 10354208 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:10354208C>A ENST00000255381.2 - 29 3980 c.3870G>T c.(3868-3870)gaG>gaT p.E1290D CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1290 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTCGTGAAAACTCACCTGTGG 0.353000 38 73 1.59361e-14 2.43767e-14 1 1 0 FBN2 2201 broad.mit.edu 37 5 127800434 127800434 + Missense_Mutation SNP C C A rs148971572 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:127800434C>A ENST00000508053.1 - 12 1783 c.809G>T c.(808-810)cGc>cTc p.R270L FBN2_ENST00000508989.1_Missense_Mutation_p.R237L|FBN2_ENST00000262464.4_Missense_Mutation_p.R270L P35556 FBN2_HUMAN fibrillin 2 270 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) AGCTCCAGTGCGGATGTTGGG 0.592000 9 57 7.48243e-07 9.22052e-07 1 1 0 TICAM1 148022 broad.mit.edu 37 19 4817343 4817343 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:4817343G>C ENST00000248244.5 - 2 1276 c.1047C>G c.(1045-1047)tgC>tgG p.C349W NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 349 Pro-rich. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GAGTAGGTGGGCACGGCTTGG 0.557000 21 40 0 0 1 0 0 TMEM89 440955 broad.mit.edu 37 3 48658349 48658349 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:48658349T>A ENST00000330862.3 - 2 504 c.406A>T c.(406-408)Atc>Ttc p.I136F NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 136 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGGCCTTCGATGTGGACCAGG 0.607000 36 82 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632712 32632712 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:32632712C>A ENST00000242310.4 - 1 2955 c.2866G>T c.(2866-2868)Gcc>Tcc p.A956S NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 956 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCAATGAAGGCCCTTGTGGTG 0.478000 18 132 4.75885e-15 7.35458e-15 1 1 0 AE000661.37 0 broad.mit.edu 37 14 22934742 22934742 + RNA SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:22934742A>T ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA TTTATGTCCTAACTGCTTTGT 0.388000 13 61 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859821 144859821 + Missense_Mutation SNP G G A rs71923781 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:144859821G>A ENST00000369359.4 - 41 6709 c.6671C>T c.(6670-6672)tCc>tTc p.S2224F PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2088F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S2088F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2173F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1982F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2088 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTAATGGAGGAGGGGCTGAG 0.572000 T PDGFRB MPD 12 92 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179599525 179599525 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:179599525C>T ENST00000589042.1 - 51 15350 c.15126G>A c.(15124-15126)acG>acA p.T5042T TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.T4725T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T3798T|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4725 Ig-like 31. 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) CTTTTACATCCGTAATATCAA 0.373000 12 102 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116729004 116729004 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:116729004T>C ENST00000375300.1 - 20 3038 c.3033A>G c.(3031-3033)caA>caG p.Q1011Q SIK3_ENST00000542607.1_Silent_p.Q893Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.Q792Q|SIK3_ENST00000375288.1_Silent_p.Q288Q|SIK3_ENST00000292055.4_Silent_p.Q953Q|SIK3_ENST00000446921.2_Silent_p.Q951Q Q9Y2K2 SIK3_HUMAN SIK family kinase 3 953 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATTCTtgctgttgctgctgtt 0.592000 5 45 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76174925 76174925 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:76174925G>T ENST00000529032.1 + 6 632 c.632G>T c.(631-633)aGc>aTc p.S211I C11orf30_ENST00000533248.1_Missense_Mutation_p.S225I|C11orf30_ENST00000524490.1_Missense_Mutation_p.S212I|C11orf30_ENST00000334736.3_Missense_Mutation_p.S211I|C11orf30_ENST00000343878.3_Missense_Mutation_p.S211I|C11orf30_ENST00000525038.1_Missense_Mutation_p.S226I|C11orf30_ENST00000524767.1_Missense_Mutation_p.S226I|C11orf30_ENST00000525919.1_Missense_Mutation_p.S212I Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 211 Interaction with BRCA2.|Poly-Ser. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AACTCTTCCAGCTCCTCTCCT 0.448000 73 118 1.92865e-43 3.50152e-43 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62288392 62288392 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:62288392T>C ENST00000378024.4 - 5 13771 c.13497A>G c.(13495-13497)gaA>gaG p.E4499E AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4499 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGAGCTTCCCTTCAGGACCTT 0.443000 13 105 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90651010 90651010 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:90651010G>T ENST00000282146.4 + 2 1331 c.890G>T c.(889-891)gGg>gTg p.G297V NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 297 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) ATGGACAGCGGGTGCTGCCCG 0.532000 17 91 6.49762e-13 9.58623e-13 1 1 0 ABCB8 11194 broad.mit.edu 37 7 150730965 150730965 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:150730965T>C ENST00000358849.4 + 2 462 c.369T>C c.(367-369)ttT>ttC p.F123F ABCB8_ENST00000477092.1_Silent_p.F123F|ABCB8_ENST00000356058.4_Silent_p.F160F|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000297504.6_Silent_p.F140F|ABCB8_ENST00000498578.1_Silent_p.F123F|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Silent_p.F123F NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 140 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGGCAGTTTCTGCACCCCC 0.622000 10 50 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523266 92523266 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:92523266A>T ENST00000298047.6 + 7 4510 c.4493A>T c.(4492-4494)cAt>cTt p.H1498L FAT3_ENST00000409404.2_Missense_Mutation_p.H1498L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1348L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1498 Cadherin 14. 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) TACACTGTTCATAGCAGCATC 0.512000 TCGA Ovarian(4;0.039) 42 171 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6978258 6978258 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:6978258G>T ENST00000389658.3 - 43 6220 c.6127C>A c.(6127-6129)Ctg>Atg p.L2043M NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2043 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCTGGACAGGCTGGCAGAT 0.597000 14 108 9.31168e-06 1.11087e-05 1 1 0 MGAM 8972 broad.mit.edu 37 7 141794611 141794611 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:141794611A>T ENST00000475668.2 + 63 7460 c.7406A>T c.(7405-7407)cAg>cTg p.Q2469L MGAM_ENST00000549489.2_Missense_Mutation_p.Q1573L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1573 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CGCTGGATGCAGCTGGGGGCC 0.498000 5 35 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17883113 17883113 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:17883113C>A ENST00000448223.2 - 20 2475 c.2206G>T c.(2206-2208)Gta>Tta p.V736L SMC6_ENST00000381272.4_Missense_Mutation_p.V762L|SMC6_ENST00000351948.4_Missense_Mutation_p.V736L|SMC6_ENST00000402989.1_Missense_Mutation_p.V736L NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 736 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCAATATCTACAGACTGGTGT 0.269000 7 9 2.17888e-05 2.55455e-05 1 1 0 TGFB1 7040 broad.mit.edu 37 19 41847918 41847918 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:41847918G>A ENST00000221930.5 - 5 1596 c.730C>T c.(730-732)Cga>Tga p.R244* NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 244 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) AGGTCACCTCGGCGGCCGGTA 0.617000 7 28 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110883936 110883936 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:110883936G>T ENST00000369784.3 + 1 2809 c.1909G>T c.(1909-1911)Gac>Tac p.D637Y RBM15_ENST00000602849.1_Missense_Mutation_p.D637Y|RBM15_ENST00000487146.2_Missense_Mutation_p.D637Y NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 637 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGCAGCAGAGACCAGCCTAG 0.592000 T MKL1 acute megakaryocytic leukemia 11 32 1.58986e-06 1.92742e-06 1 1 0 WNT10A 80326 broad.mit.edu 37 2 219754997 219754997 + Missense_Mutation SNP G G T rs143424659 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:219754997G>T ENST00000258411.3 + 3 1301 c.668G>T c.(667-669)cGc>cTc p.R223L NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 223 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCGGGGAGCGCTTTTCTAAG 0.647000 9 31 7.48243e-07 9.22052e-07 1 1 0 PCCB 5096 broad.mit.edu 37 3 135969287 135969287 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:135969287G>A ENST00000471595.1 + 1 88 c.70G>A c.(70-72)Gcg>Acg p.A24T PCCB_ENST00000490504.1_Missense_Mutation_p.A24T|PCCB_ENST00000483687.1_Missense_Mutation_p.A24T|PCCB_ENST00000468777.1_Missense_Mutation_p.A24T|PCCB_ENST00000482086.1_Missense_Mutation_p.A24T|PCCB_ENST00000251654.4_Missense_Mutation_p.A24T|PCCB_ENST00000466072.1_Missense_Mutation_p.A24T|PCCB_ENST00000462637.1_Missense_Mutation_p.A24T|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Missense_Mutation_p.A24T|PCCB_ENST00000478469.1_Missense_Mutation_p.A24T P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 24 fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) TCTCCGCGCCGCGGTCCGCAG 0.692000 OREG0015823 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92224265 92224265 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:92224265G>T ENST00000212355.4 - 4 754 c.289C>A c.(289-291)Cac>Aac p.H97N TGFBR3_ENST00000525962.1_Missense_Mutation_p.H97N|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H97N|TGFBR3_ENST00000468996.2_5'UTR NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 97 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ACAGACTTGTGGTGGATGTGG 0.507000 13 128 7.03913e-09 9.4699e-09 1 1 0 GFI1 2672 broad.mit.edu 37 1 92948935 92948935 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:92948935C>G ENST00000370332.1 - 2 428 c.110G>C c.(109-111)cGa>cCa p.R37P GFI1_ENST00000427103.1_Missense_Mutation_p.R37P|GFI1_ENST00000294702.5_Missense_Mutation_p.R37P|GFI1_ENST00000483490.1_5'UTR NM_001127215.1 NP_001120687.1 Q99684 GFI1_HUMAN growth factor independent 1 transcription repressor 37 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CGCACCTGCTCGGCTAGGCGC 0.647000 7 21 0 0 1 0 0 JAM2 58494 broad.mit.edu 37 21 27071170 27071170 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr21:27071170G>A ENST00000480456.1 + 5 1126 c.576G>A c.(574-576)atG>atA p.M192I JAM2_ENST00000312957.5_Missense_Mutation_p.M192I|JAM2_ENST00000400532.1_Missense_Mutation_p.M192I|JAM2_ENST00000425221.2_Missense_Mutation_p.M156I NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 192 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 CATACACAATGAATACAAAAA 0.378000 18 81 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796746 109796746 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:109796746G>C ENST00000297459.3 - 2 760 c.582C>G c.(580-582)atC>atG p.I194M TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 194 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CGATGTAAGAGATGATCACGA 0.552000 24 60 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108810978 108810978 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:108810978C>T ENST00000322536.3 + 18 2585 c.2456C>T c.(2455-2457)aCc>aTc p.T819I DDX10_ENST00000534221.1_3'UTR NM_004398.2 NP_004389.2 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 819 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACCAGTGATACCAAGAAGAAG 0.393000 T NUP98 AML* 5 68 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432731 72432731 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:72432731A>G ENST00000425175.1 + 24 3227 c.3110A>G c.(3109-3111)cAc>cGc p.H1037R SLC4A4_ENST00000264485.5_Silent_p.S1069S|SLC4A4_ENST00000340595.3_Silent_p.S1025S|SLC4A4_ENST00000351898.6_Silent_p.S985S NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 70 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAGAAAGATCACCAACATTCC 0.338000 11 48 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128480720 128480720 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:128480720C>A ENST00000325888.8 + 10 1929 c.1668C>A c.(1666-1668)atC>atA p.I556I FLNC_ENST00000346177.6_Silent_p.I556I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 556 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCTACGCCATCCCTCGCAGGT 0.637000 23 90 2.27731e-05 2.6616e-05 1 1 0 OR2M5 127059 broad.mit.edu 37 1 248308625 248308625 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:248308625T>C ENST00000366476.1 + 1 176 c.176T>C c.(175-177)aTg>aCg p.M59T NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACACCCCCATGTACTTCCTC 0.512000 55 545 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51135968 51135968 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:51135968C>A ENST00000338916.4 - 2 882 c.249G>T c.(247-249)tgG>tgT p.W83C SYT3_ENST00000600079.1_Missense_Mutation_p.W83C|SYT3_ENST00000544769.1_Missense_Mutation_p.W83C|SYT3_ENST00000593901.1_Missense_Mutation_p.W83C NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 83 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCTTGTCCCGCCAGGGCACCC 0.652000 12 63 0.010729 0.0111308 1 1 0 PTGS2 5743 broad.mit.edu 37 1 186645994 186645994 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:186645994G>T ENST00000367468.5 - 6 830 c.694C>A c.(694-696)Ctt>Att p.L232I PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 232 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) TCCTTGAAAAGGCGCAGTTTA 0.318000 59 202 4.45325e-31 7.87479e-31 1 1 0 GPR35 2859 broad.mit.edu 37 2 241569824 241569824 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:241569824G>T ENST00000319838.5 + 6 1397 c.455G>T c.(454-456)tGg>tTg p.W152L GPR35_ENST00000407714.1_Missense_Mutation_p.W152L|GPR35_ENST00000403859.1_Missense_Mutation_p.W152L|GPR35_ENST00000430267.1_Missense_Mutation_p.W152L|GPR35_ENST00000438013.2_Missense_Mutation_p.W183L NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 152 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) GTGGCTCGCTGGCTCCTGGGG 0.701000 6 44 0.00198382 0.00210781 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107575875 107575875 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:107575875T>C ENST00000393561.1 - 25 4429 c.4245A>G c.(4243-4245)tcA>tcG p.S1415S LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Silent_p.S1391S P07942 LAMB1_HUMAN laminin, beta 1 1391 Domain alpha. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGCAGCGGCTGAAAGGTCTA 0.438000 12 215 0 0 1 0 0 ADM2 79924 broad.mit.edu 37 22 50921163 50921163 + Missense_Mutation SNP G G A rs72438078 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr22:50921163G>A ENST00000395738.2 + 2 570 c.278G>A c.(277-279)cGa>cAa p.R93Q ADM2_ENST00000395737.1_Missense_Mutation_p.R93Q|ADM2_ENST00000362068.2_Missense_Mutation_p.E10K NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 93 positive regulation of angiogenesis extracellular region hormone activity p.H95_R100delHSGPRR(1) breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGGGCCCCCGAAGACACTCG 0.692000 6 12 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467859 66467859 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:66467859C>A ENST00000273854.3 - 3 1010 c.410G>T c.(409-411)tGc>tTc p.C137F EPHA5_ENST00000432638.2_Missense_Mutation_p.C137F|EPHA5_ENST00000354839.4_Missense_Mutation_p.C137F|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137F NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 137 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AAGGCTGTTGCAGTCCCGCAG 0.428000 TSP Lung(17;0.13) 20 83 2.98393e-07 3.79589e-07 1 1 0 LINC00521 256369 broad.mit.edu 37 14 94464474 94464474 + RNA SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:94464474G>C ENST00000444118.1 + 0 154 NR_024182.1 GCGGTGGTGAGGTGATGGCAG 0.582000 3 25 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881308 35881308 + Silent SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:35881308A>T ENST00000314607.6 + 28 4382 c.4302A>T c.(4300-4302)tcA>tcT p.S1434S ZMYM4_ENST00000373297.2_Silent_p.S1345S NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1434 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCAGGAGTCAGAACCAGGTA 0.413000 19 40 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42930740 42930740 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:42930740C>G ENST00000426333.2 - 25 2782 c.2485G>C c.(2485-2487)Gag>Cag p.E829Q EFTUD2_ENST00000402521.3_Missense_Mutation_p.E794Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E819Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E829Q NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 829 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TAGTAAGGCTCCATCAGACGA 0.587000 30 96 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8999176 8999176 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:8999176C>G ENST00000344836.4 - 14 1639 c.1441G>C c.(1441-1443)Gat>Cat p.D481H USP7_ENST00000381886.4_Missense_Mutation_p.D465H|USP7_ENST00000535863.1_Missense_Mutation_p.D382H NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 481 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ACGTCGTCATCAAATTTACAC 0.458000 OREG0023595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 97 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118560423 118560423 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:118560423A>G ENST00000311085.8 + 37 8314 c.8234A>G c.(8233-8235)aAt>aGt p.N2745S DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.N2766S NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2745 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAAGCCATTAATAATGTTAGA 0.244000 10 52 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101755671 101755671 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:101755671C>A ENST00000251127.6 - 26 2990 c.2909G>T c.(2908-2910)tGt>tTt p.C970F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 970 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGGCATCCAACAAAGAAATAT 0.453000 18 47 7.07596e-05 8.10539e-05 1 1 0 WDR63 126820 broad.mit.edu 37 1 85592345 85592345 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:85592345C>A ENST00000294664.6 + 20 2444 c.2264C>A c.(2263-2265)tCt>tAt p.S755Y WDR63_ENST00000326813.8_Missense_Mutation_p.S716Y|WDR63_ENST00000370596.1_Missense_Mutation_p.S716Y NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 755 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CCAGCCCAGTCTCAAAACATT 0.433000 17 91 3.32936e-07 4.20669e-07 1 1 0 ZNF572 137209 broad.mit.edu 37 8 125988735 125988735 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:125988735G>T ENST00000319286.5 + 3 379 c.225G>T c.(223-225)tgG>tgT p.W75C NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CACTGACATGGGTTCAAGATG 0.388000 HNSCC(60;0.17) 22 70 1.37657e-19 2.273e-19 1 1 0 PIGQ 9091 broad.mit.edu 37 16 624190 624190 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:624190C>G ENST00000321878.5 + 2 275 c.116C>G c.(115-117)cCc>cGc p.P39R PIGQ_ENST00000409527.2_Missense_Mutation_p.P39R|PIGQ_ENST00000470411.2_Missense_Mutation_p.P39R|PIGQ_ENST00000026218.5_Missense_Mutation_p.P39R NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 39 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CTGCACTTTCCCTTCATCCCC 0.701000 7 21 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133070955 133070955 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:133070955C>T ENST00000326499.6 - 6 1374 c.1250G>A c.(1249-1251)cGg>cAg p.R417Q VNN2_ENST00000525270.1_Missense_Mutation_p.R364Q|VNN2_ENST00000525289.1_Missense_Mutation_p.R196Q NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 417 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) TTCTACTGGCCGTCCACAAGT 0.408000 6 66 0 0 1 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927203 53927203 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:53927203C>A ENST00000371445.3 + 2 690 c.635C>A c.(634-636)tCc>tAc p.S212Y DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 212 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CCTGGTGGCTCCAGCATGCAC 0.652000 16 120 1.15088e-07 1.48424e-07 1 1 0 DPY19L4 286148 broad.mit.edu 37 8 95802050 95802050 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:95802050C>T ENST00000414645.2 + 19 2183 c.2084C>T c.(2083-2085)tCt>tTt p.S695F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 695 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ATTAACTATTCTCCATATGTG 0.313000 26 113 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41738734 41738734 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:41738734C>A ENST00000318579.4 - 1 588 c.169G>T c.(169-171)Gca>Tca p.A57S MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000329168.3_Missense_Mutation_p.A57S|MEOX1_ENST00000549132.1_Silent_p.R27R NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 57 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GGGTACGCTGCCGTCGCTGTC 0.642000 23 45 6.21321e-17 9.86727e-17 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57181839 57181839 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:57181839C>T ENST00000504228.1 + 6 2276 c.2171C>T c.(2170-2172)gCc>gTc p.A724V KIAA1211_ENST00000264229.6_Missense_Mutation_p.A724V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A717V Q6ZU35 K1211_HUMAN KIAA1211 724 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATTATGCCTGCCTGGCAGAAA 0.557000 13 74 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54041979 54041979 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:54041979G>T ENST00000373980.4 + 14 2029 c.1612G>T c.(1612-1614)Gag>Tag p.E538* PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.E241*|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.E511*|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Nonsense_Mutation_p.E523* NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 523 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TGGGACTCCAGAGTATGTAGC 0.418000 30 44 3.1745e-13 4.72072e-13 1 1 0 C9orf72 203228 broad.mit.edu 37 9 27562475 27562475 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:27562475C>A ENST00000380003.3 - 4 568 c.e4-1 C9orf72_ENST00000379997.3_Splice_Site|C9orf72_ENST00000488117.1_Splice_Site NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) TACTCTGACCCTGCACAATAA 0.333000 9 33 0.000442599 0.000484012 1 1 0 IGHM 3507 broad.mit.edu 37 14 106321254 106321254 + RNA SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:106321254C>T ENST00000390559.2 - 0 734 GGTCTGTGACCAGGCAGGTCA 0.567000 46 107 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79408995 79408995 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:79408995C>G ENST00000307745.7 + 9 620 c.620C>G c.(619-621)tCc>tGc p.S207C GAGGCAGGCTCCCTGCAGAAG 0.711000 5 64 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150432716 150432716 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:150432716T>G ENST00000401000.4 + 8 1321 c.1256T>G c.(1255-1257)tTg>tGg p.L419W RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.L419W|RPRD2_ENST00000369068.4_Missense_Mutation_p.L445W Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 445 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GCATTGGCTTTGCCAAACCTG 0.473000 9 26 0 0 1 0 0 C19orf59 199675 broad.mit.edu 37 19 7742570 7742570 + Nonsense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:7742570C>T ENST00000333598.3 + 2 596 c.142C>T c.(142-144)Cag>Tag p.Q48* C19orf59_ENST00000597445.1_Intron NM_174918.2 NP_777578.2 Q8IX19 MCEM1_HUMAN chromosome 19 open reading frame 59 48 integral to membrane endometrium(1)|lung(2)|skin(1)|stomach(1) 5 CTTCAAAAATCAGGACCATGC 0.577000 OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 54 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294243 29294243 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:29294243T>A ENST00000331664.5 - 1 2884 c.2885A>T c.(2884-2886)cAc>cTc p.H962L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 962 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 AGGGCCGGAGTGGTGCCAGGC 0.647000 4 57 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165514132 165514132 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:165514132T>A ENST00000294818.1 + 1 889 c.599T>A c.(598-600)aTa>aAa p.I200K RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 200 LRRCT. integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ATCTTCTTAATAGTGTTCCAT 0.498000 37 157 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154201188 154201188 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:154201188G>T ENST00000428931.1 + 4 433 c.266G>T c.(265-267)gGa>gTa p.G89V UBAP2L_ENST00000271877.7_Missense_Mutation_p.G89V|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G89V|UBAP2L_ENST00000343815.6_Missense_Mutation_p.G89V NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 89 UBA. binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTCTGGAAGGAAACCCAGAC 0.423000 12 104 4.3838e-07 5.52034e-07 1 1 0 ZNF585A 199704 broad.mit.edu 37 19 37644259 37644259 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:37644259A>G ENST00000356958.4 - 5 800 c.542T>C c.(541-543)aTg>aCg p.M181T ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.M126T|ZNF585A_ENST00000292841.5_Missense_Mutation_p.M126T Q6P3V2 Z585A_HUMAN zinc finger protein 585A 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCTCTCTCATATGGGTTTT 0.393000 20 108 0 0 1 0 0 LCE2D 353141 broad.mit.edu 37 1 152636817 152636817 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:152636817G>T ENST00000368784.1 + 2 291 c.236G>T c.(235-237)cGt>cTt p.R79L NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 79 Cys-rich. keratinization p.R79H(1) large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACAGGCCCCGTCTCTTCCAC 0.682000 55 143 4.09106e-26 7.10004e-26 1 1 0 LDLRAD4 753 broad.mit.edu 37 18 13645348 13645348 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:13645348G>T ENST00000361205.4 + 7 1281 c.613G>T c.(613-615)Gtg>Ttg p.V205L LDLRAD4_ENST00000359446.5_Missense_Mutation_p.V205L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.V168L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.V107L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.V150L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.V128L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.V187L NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 CCGAGAGTCCGTGAGGGCCCC 0.582000 11 81 6.40141e-05 7.34395e-05 1 1 0 STARD13 90627 broad.mit.edu 37 13 33692207 33692207 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:33692207T>C ENST00000336934.5 - 8 2392 c.2276A>G c.(2275-2277)tAt>tGt p.Y759C STARD13_ENST00000255486.4_Missense_Mutation_p.Y751C|STARD13_ENST00000399365.3_Missense_Mutation_p.Y641C NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 759 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTTACACTGATAGATATGGAG 0.403000 27 47 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136376 134136376 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:134136376C>A ENST00000372271.3 - 2 1052 c.685G>T c.(685-687)Gcc>Tcc p.A229S FAM78A_ENST00000372269.3_Missense_Mutation_p.A226S|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 229 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CGCAGCCGGGCGCGCTGGCCC 0.652000 23 66 1.9806e-07 2.54551e-07 1 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21769217 21769217 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:21769217G>T ENST00000206660.6 + 3 311 c.311G>T c.(310-312)gGg>gTg p.G104V RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G104V|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G104V|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G104V Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 104 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GCAAGGCGCGGGCAGAAGGCG 0.726000 6 37 5.9392e-07 7.4042e-07 1 1 0 EXPH5 23086 broad.mit.edu 37 11 108382102 108382102 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:108382102C>G ENST00000265843.4 - 6 4242 c.4132G>C c.(4132-4134)Gat>Cat p.D1378H EXPH5_ENST00000428840.1_Missense_Mutation_p.D1302H|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1190H|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1371H NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1378 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTTCTGAATCACCTAGAGGT 0.373000 28 67 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71078980 71078980 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:71078980C>A ENST00000452400.2 - 7 732 c.551G>T c.(550-552)gGa>gTa p.G184V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 184 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGACCAAGATCCCCCATTTAC 0.408000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 48 187 1.47857e-17 2.38356e-17 1 1 0 EVPL 2125 broad.mit.edu 37 17 74003663 74003663 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:74003663C>T ENST00000301607.3 - 22 5876 c.5623G>A c.(5623-5625)Gag>Aag p.E1875K EVPL_ENST00000586740.1_Missense_Mutation_p.E1897K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1875 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GAGTAGCGCTCACGGCTGAGC 0.632000 11 131 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267221 66267221 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:66267221G>T ENST00000327268.4 - 6 1244 c.1080C>A c.(1078-1080)taC>taA p.Y360* ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Nonsense_Mutation_p.Y360* NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 360 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TGAGCTCAATGTAAATCTTAC 0.433000 38 104 6.05902e-23 1.03003e-22 1 1 0 TBC1D15 64786 broad.mit.edu 37 12 72290500 72290500 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:72290500T>C ENST00000550746.1 + 10 1143 c.1079T>C c.(1078-1080)cTg>cCg p.L360P TBC1D15_ENST00000393309.3_Missense_Mutation_p.L114P|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L351P|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L343P NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 360 Rab-GAP TBC. protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAATTTCTTCTGGGTTATTTT 0.338000 20 45 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73434883 73434883 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr3:73434883G>T ENST00000263666.4 - 9 1686 c.1572C>A c.(1570-1572)caC>caA p.H524Q PDZRN3_ENST00000479530.1_Missense_Mutation_p.H241Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H246Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.H181Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H181Q|PDZRN3_ENST00000466348.1_5'UTR NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 524 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCATGTCCATGTGCAGGTCAT 0.562000 21 67 7.88262e-20 1.31612e-19 1 1 0 NCSTN 23385 broad.mit.edu 37 1 160314522 160314522 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:160314522G>T ENST00000368063.1 + 3 316 c.36G>T c.(34-36)agG>agT p.R12S NCSTN_ENST00000392212.4_Missense_Mutation_p.R12S|NCSTN_ENST00000535857.1_Missense_Mutation_p.R32S|NCSTN_ENST00000294785.5_Missense_Mutation_p.R32S Q92542 NICA_HUMAN nicastrin 32 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTTTGTGCAGGGGAAACTCAG 0.438000 14 57 2.31682e-05 2.70356e-05 1 1 0 TAF15 8148 broad.mit.edu 37 17 34171540 34171540 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:34171540G>A ENST00000588240.1 + 15 1352 c.1237G>A c.(1237-1239)Gga>Aga p.G413R TAF15_ENST00000311979.3_Missense_Mutation_p.G410R|TAF15_ENST00000592237.1_Missense_Mutation_p.G322R NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 413 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGGCAGAggtggagaccgagg 0.592000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 39 115 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191660 66191660 + Silent SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:66191660C>G ENST00000311034.2 + 7 1475 c.1299C>G c.(1297-1299)ggC>ggG p.G433G NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 433 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 AGCCAGGAGGCTGTGCCTTCC 0.557000 80 160 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115409891 115409891 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:115409891G>T ENST00000369358.4 - 9 1037 c.793C>A c.(793-795)Cat>Aat p.H265N NRAP_ENST00000359988.3_Missense_Mutation_p.H265N|NRAP_ENST00000369360.3_Missense_Mutation_p.H265N|NRAP_ENST00000360478.3_Missense_Mutation_p.H265N Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 265 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TATTGTTGATGGTACCTCACC 0.443000 35 201 1.30015e-28 2.28826e-28 1 1 0 DSG3 1830 broad.mit.edu 37 18 29049188 29049188 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:29049188C>T ENST00000257189.4 + 12 1856 c.1773C>T c.(1771-1773)aaC>aaT p.N591N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 591 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTGTGACAACAGGGGCATCT 0.582000 19 92 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143028687 143028687 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:143028687C>A ENST00000343257.2 + 10 1195 c.1108C>A c.(1108-1110)Cgc>Agc p.R370S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 370 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.R370S(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTATCTGCATCGCCAAGTCAT 0.478000 7 69 0.000274275 0.000302147 1 1 0 BMPER 168667 broad.mit.edu 37 7 34125418 34125418 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:34125418C>A ENST00000297161.2 + 14 1833 c.1459C>A c.(1459-1461)Ccg>Acg p.P487T BMPER_ENST00000426693.1_Missense_Mutation_p.P487T NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 487 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CATGGCTGCGCCGCATCTCAA 0.438000 17 62 5.3912e-06 6.44189e-06 1 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43678731 43678731 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:43678731G>C ENST00000374466.3 + 8 1705 c.1370G>C c.(1369-1371)gGa>gCa p.G457A NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 457 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGTTGGGGTGGAGAAGATGTT 0.408000 24 164 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810867 123810867 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:123810867C>A ENST00000307033.2 + 1 618 c.544C>A c.(544-546)Cct>Act p.P182T NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGTGATGTGCCTCAGCTGAT 0.478000 38 165 5.43694e-19 8.87664e-19 1 1 0 DNHD1 144132 broad.mit.edu 37 11 6524146 6524146 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:6524146C>T ENST00000254579.6 + 4 1474 c.910C>T c.(910-912)Cgg>Tgg p.R304W DNHD1_ENST00000527990.2_Missense_Mutation_p.R304W|DNHD1_ENST00000354685.3_Missense_Mutation_p.R304W NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 304 microtubule-based movement dynein complex microtubule motor activity p.R304W(2) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCTCCCAGCCGGTACTTTAG 0.537000 17 32 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22023023 22023023 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:22023023G>C ENST00000306385.5 + 1 775 c.105G>C c.(103-105)gaG>gaC p.E35D BMP1_ENST00000354870.5_Missense_Mutation_p.E35D|BMP1_ENST00000397816.3_Missense_Mutation_p.E35D|BMP1_ENST00000397814.3_Missense_Mutation_p.E35D|BMP1_ENST00000306349.8_Missense_Mutation_p.E35D NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 35 cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) TGGCGGAGGAGGACGACTCGG 0.761000 6 9 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236908062 236908062 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:236908062C>A ENST00000366578.4 + 12 1558 c.1392C>A c.(1390-1392)atC>atA p.I464I ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.I464I NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 464 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) TCGCAGCCATCGCGCAGGAGC 0.657000 7 48 0.0293803 0.0300225 1 1 0 TM9SF2 9375 broad.mit.edu 37 13 100193814 100193814 + Splice_Site SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:100193814A>G ENST00000376387.4 + 9 1100 c.908_splice c.e9-1 p.I304_splice NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 304 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TTTCTACAGCATTATGAATTC 0.333000 33 64 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133894759 133894759 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:133894759G>C ENST00000220616.4 + 7 831 c.791G>C c.(790-792)gGc>gCc p.G264A TG_ENST00000377869.1_Missense_Mutation_p.G264A NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 264 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATTTTTGCTGGCCTGGACCTT 0.478000 55 217 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099917 50099917 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:50099917G>T ENST00000418929.2 + 4 2337 c.2325G>T c.(2323-2325)caG>caT p.Q775H NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 476 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGTCTACCCAGCCCACTCCCC 0.701000 4 29 0.014758 0.0151843 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725511 140725511 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:140725511G>T ENST00000253812.6 + 1 1911 c.1911G>T c.(1909-1911)gcG>gcT p.A637A PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAGACGCGCTCAAGCAGA 0.701000 23 78 3.11337e-16 4.88219e-16 1 1 0 TRMT2B 79979 broad.mit.edu 37 X 100292981 100292981 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:100292981G>C ENST00000372936.3 - 5 1135 c.363C>G c.(361-363)ctC>ctG p.L121L TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372931.5_Silent_p.L121L|TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000372935.1_Silent_p.L121L|TRMT2B_ENST00000372939.1_Intron|TRMT2B_ENST00000545398.1_Silent_p.L121L NM_024917.5 NP_079193.2 Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 121 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 TGACTCCATTGAGCATTTGGA 0.428000 70 150 0 0 1 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269404 30269404 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:30269404C>A ENST00000378981.3 + 4 1115 c.794C>A c.(793-795)cCc>cAc p.P265H MAGEB1_ENST00000397550.1_Missense_Mutation_p.P265H|MAGEB1_ENST00000397548.2_Missense_Mutation_p.P265H NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 265 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 AACAGTGATCCCCCACGCTAT 0.507000 24 33 4.26978e-12 6.20154e-12 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196723505 196723505 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:196723505C>A ENST00000312428.6 - 43 7860 c.7760G>T c.(7759-7761)aGa>aTa p.R2587I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2587 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CACTTCATATCTCTTTTTCAT 0.373000 24 103 6.36457e-07 7.90814e-07 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44576029 44576029 + Splice_Site SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:44576029T>C ENST00000289547.4 - 4 1737 c.e4-2 NPC1L1_ENST00000423141.1_Splice_Site|NPC1L1_ENST00000381160.3_Splice_Site|NPC1L1_ENST00000546276.1_Splice_Site NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGTCCTTTCCTGGGATAAGAA 0.607000 25 58 0 0 1 0 0 LAP3 51056 broad.mit.edu 37 4 17585192 17585192 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:17585192G>T ENST00000226299.4 + 5 740 c.466G>T c.(466-468)Gtg>Ttg p.V156L LAP3_ENST00000606142.1_Missense_Mutation_p.V125L NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 156 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 GGAGGGAGCGGTGCTTGGTCT 0.527000 26 76 3.28513e-13 4.86589e-13 1 1 0 OR4D10 390197 broad.mit.edu 37 11 59245091 59245091 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:59245091C>A ENST00000530162.1 + 1 246 c.189C>A c.(187-189)ctC>ctA p.L63L NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATTTTTTGCTCCATAATTTAT 0.443000 72 168 5.1178e-15 7.89302e-15 1 1 0 NIPAL4 348938 broad.mit.edu 37 5 156899856 156899856 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:156899856C>T ENST00000311946.7 + 6 1405 c.1289C>T c.(1288-1290)cCg>cTg p.P430L ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.P411L NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 430 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 TCTCCCGCCCCGGAACCCACT 0.498000 12 22 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30793054 30793054 + Silent SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:30793054T>A ENST00000262525.4 - 3 2802 c.2595A>T c.(2593-2595)ccA>ccT p.P865P NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 865 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) GGGAGACACCTGGGTGGCAGC 0.562000 10 37 0 0 1 0 0 NAAA 27163 broad.mit.edu 37 4 76841044 76841044 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:76841044C>A ENST00000505594.1 - 7 875 c.684G>T c.(682-684)gtG>gtT p.V228V NAAA_ENST00000399497.3_Intron|NAAA_ENST00000286733.4_Intron|NAAA_ENST00000511606.1_Intron|NAAA_ENST00000507956.1_Intron Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 0 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 GTATGCAGGACACTGTGACAC 0.408000 11 54 1.08611e-07 1.40799e-07 1 1 0 TMEM255A 55026 broad.mit.edu 37 X 119410810 119410810 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:119410810G>A ENST00000371369.4 - 7 831 c.605C>T c.(604-606)aCc>aTc p.T202I TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.T62I|TMEM255A_ENST00000309720.5_Missense_Mutation_p.T226I NM_001104544.1 NP_001098014.1 transmembrane protein 255A GTTGAGGATGGTGGCAGACCA 0.507000 32 50 0 0 1 0 0 SYT13 57586 broad.mit.edu 37 11 45268061 45268061 + Silent SNP C C T rs144015985 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:45268061C>T ENST00000020926.3 - 5 960 c.849G>A c.(847-849)gaG>gaA p.E283E NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 283 transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CTGCAGATGGCTCCTGAAACA 0.547000 4 19 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099244 50099244 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:50099244G>T ENST00000418929.2 + 4 1664 c.1652G>T c.(1651-1653)aGc>aTc p.S551I NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 324 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGGGGACCCAGCTCCCTGGGA 0.711000 7 44 0.00621372 0.0065005 1 1 0 GAD2 2572 broad.mit.edu 37 10 26558096 26558096 + Silent SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:26558096A>G ENST00000376261.3 + 9 1472 c.969A>G c.(967-969)aaA>aaG p.K323K GAD2_ENST00000259271.3_Silent_p.K323K NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 323 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TTGAAGCCAAACAGAAAGTAA 0.358000 15 68 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82417712 82417712 + Silent SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:82417712T>C ENST00000370728.1 + 11 2313 c.1668T>C c.(1666-1668)gcT>gcC p.A556A LPHN2_ENST00000370723.1_Silent_p.A556A|LPHN2_ENST00000370725.1_Silent_p.A556A|LPHN2_ENST00000370713.1_Silent_p.A556A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.A556A|LPHN2_ENST00000335786.5_Silent_p.A556A|LPHN2_ENST00000370717.2_Silent_p.A556A|LPHN2_ENST00000359929.3_Silent_p.A556A|LPHN2_ENST00000271029.4_Silent_p.A556A|LPHN2_ENST00000370727.1_Silent_p.A556A|LPHN2_ENST00000370715.1_Silent_p.A556A|LPHN2_ENST00000370730.1_Silent_p.A556A|LPHN2_ENST00000319517.6_Silent_p.A556A|LPHN2_ENST00000370721.1_Silent_p.A494A O95490 LPHN2_HUMAN latrophilin 2 556 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAGTGTTTGCTGGGGATGTAA 0.428000 12 74 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175123 125175123 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:125175123G>T ENST00000431078.1 + 4 849 c.485G>T c.(484-486)aGt>aTt p.S162I NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 162 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.S162N(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGAATCCCAGTGGGAAGATT 0.502000 3 25 0.004672 0.00489448 1 1 0 CCDC136 64753 broad.mit.edu 37 7 128454947 128454947 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:128454947T>A ENST00000297788.4 + 15 3386 c.3019T>A c.(3019-3021)Tct>Act p.S1007T CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1007 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTCGGATACTTCTGAGAGCGA 0.468000 3 14 0 0 1 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293437 71293437 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:71293437G>T ENST00000398530.1 - 1 484 c.447C>A c.(445-447)ccC>ccA p.P149P AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 149 6 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGCAGCACACGGGGACAcagc 0.557000 21 140 2.27731e-05 2.6616e-05 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62294707 62294707 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:62294707G>T ENST00000378024.4 - 5 7456 c.7182C>A c.(7180-7182)caC>caA p.H2394Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2394 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGCTCTTCAAGTGTAGATCGA 0.483000 54 72 1.86277e-20 3.13113e-20 1 1 0 C6 729 broad.mit.edu 37 5 41154099 41154099 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:41154099C>A ENST00000263413.3 - 15 2367 c.2101_splice c.e15-1 p.R701_splice C6_ENST00000337836.5_Splice_Site_p.R701_splice NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 701 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCACTCCGTCCCTGCAAGAG 0.393000 93 42 6.65942e-36 1.19454e-35 1 1 0 ARSF 416 broad.mit.edu 37 X 2994711 2994711 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:2994711G>T ENST00000381127.1 + 4 504 c.e4+1 ARSF_ENST00000359361.2_Splice_Site|ARSF_ENST00000537104.1_Splice_Site NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 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) ATCCGATCAGGTGCGCAAACT 0.582000 5 17 1.23904e-05 1.46414e-05 1 1 0 ATP10B 23120 broad.mit.edu 37 5 159992831 159992831 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:159992831G>T ENST00000327245.5 - 26 4861 c.4015C>A c.(4015-4017)Cca>Aca p.P1339T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1339 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTTGTCTGGGGGGAGTTTG 0.478000 43 112 1.32136e-16 2.08518e-16 1 1 0 NAV3 89795 broad.mit.edu 37 12 78516179 78516179 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:78516179G>T ENST00000397909.2 + 16 4382 c.4209G>T c.(4207-4209)acG>acT p.T1403T NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.T1403T|NAV3_ENST00000228327.6_Silent_p.T1403T Q8IVL0 NAV3_HUMAN neuron navigator 3 1403 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCATGAGAACGGGTAGTGTGA 0.547000 HNSCC(70;0.22) 26 57 3.6726e-16 5.74708e-16 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62041161 62041161 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:62041161C>A ENST00000578147.1 - 10 1553 c.1477G>T c.(1477-1479)Ggt>Tgt p.G493C SCN4A_ENST00000435607.1_Missense_Mutation_p.G493C P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 493 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCCTCCCCACCTTCCAGAGCT 0.617000 8 8 0.000274275 0.000302147 1 1 0 TNXB 7148 broad.mit.edu 37 6 32025991 32025991 + Nonsense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:32025991T>A ENST00000375244.3 - 22 7870 c.7669A>T c.(7669-7671)Aag>Tag p.K2557* TNXB_ENST00000375247.2_Nonsense_Mutation_p.K2557* P22105 TENX_HUMAN tenascin XB 2617 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCCCTGTCCTTGTACTGCACG 0.652000 18 56 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524073 108524073 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:108524073C>A ENST00000379007.2 - 2 393 c.339G>T c.(337-339)atG>atT p.M113I NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 113 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 CTTAATTTCCCATTTCCTTTG 0.323000 22 55 3.5997e-14 5.47271e-14 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468266 50468266 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:50468266G>T ENST00000331340.3 + 8 1656 c.1501G>T c.(1501-1503)Gac>Tac p.D501Y IKZF1_ENST00000349824.4_Missense_Mutation_p.D358Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.D459Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D414Y|IKZF1_ENST00000357364.4_Missense_Mutation_p.D414Y|IKZF1_ENST00000346667.4_Missense_Mutation_p.D271Y|IKZF1_ENST00000438033.1_Missense_Mutation_p.D414Y|IKZF1_ENST00000359197.5_Missense_Mutation_p.D459Y NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 501 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CCACAGCCAGGACCGGTACGA 0.627000 """D,T""" BCL6 """ALL, DLBCL""" 6 36 3.59834e-05 4.16649e-05 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468265 50468265 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:50468265G>T ENST00000331340.3 + 8 1655 c.1500G>T c.(1498-1500)caG>caT p.Q500H IKZF1_ENST00000349824.4_Missense_Mutation_p.Q357H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.Q458H|IKZF1_ENST00000343574.5_Missense_Mutation_p.Q413H|IKZF1_ENST00000357364.4_Missense_Mutation_p.Q413H|IKZF1_ENST00000346667.4_Missense_Mutation_p.Q270H|IKZF1_ENST00000438033.1_Missense_Mutation_p.Q413H|IKZF1_ENST00000359197.5_Missense_Mutation_p.Q458H NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 500 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) ACCACAGCCAGGACCGGTACG 0.627000 """D,T""" BCL6 """ALL, DLBCL""" 6 37 3.59834e-05 4.16649e-05 1 1 0 ZNF572 137209 broad.mit.edu 37 8 125988734 125988734 + Nonsense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:125988734G>A ENST00000319286.5 + 3 378 c.224G>A c.(223-225)tGg>tAg p.W75* NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CCACTGACATGGGTTCAAGAT 0.383000 HNSCC(60;0.17) 22 70 0 0 1 0 0 HRH4 59340 broad.mit.edu 37 18 22056937 22056937 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:22056937T>C ENST00000256906.4 + 3 684 c.584T>C c.(583-585)aTg>aCg p.M195T HRH4_ENST00000426880.2_Missense_Mutation_p.M107T NM_001160166.1|NM_021624.3 NP_001153638.1|NP_067637.2 Q9H3N8 HRH4_HUMAN histamine receptor H4 195 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TATTTCAACATGAATATTTAT 0.438000 35 139 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344535 56344535 + Missense_Mutation SNP A A C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:56344535A>C ENST00000526812.2 - 1 728 c.663T>G c.(661-663)atT>atG p.I221M NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TCGCTGCAAAAATGAAAAGAT 0.453000 8 85 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780254 37780254 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:37780254T>C ENST00000447769.1 + 4 548 c.259T>C c.(259-261)Ttc>Ctc p.F87L EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F87L|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 87 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGGGCTGCCCTTCTGCAAATT 0.488000 10 91 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112510 148112510 + Splice_Site SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:148112510C>G ENST00000361727.3 + 24 4314 c.3796_splice c.e24-1 p.G1266_splice CNTNAP2_ENST00000538075.1_Splice_Site_p.G325_splice|CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1266 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) CTCCGTCAGGCGTCATTGCTG 0.557000 HNSCC(39;0.1) 6 47 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30505533 30505533 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:30505533G>T ENST00000356798.6 + 12 1394 c.1213_splice c.e12-1 p.G405_splice ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Splice_Site_p.G322_splice NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 405 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CTTTCCTCAGGTTACACCGTG 0.602000 32 85 4.65686e-17 7.42715e-17 1 1 0 PBXIP1 57326 broad.mit.edu 37 1 154920756 154920756 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:154920756C>T ENST00000368463.3 - 6 567 c.496G>A c.(496-498)Gag>Aag p.E166K PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E11K|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E166K|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Missense_Mutation_p.E137K NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 166 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGCCGGCCTCCCGGCCCCGC 0.682000 6 11 0 0 1 0 0 PRR21 643905 broad.mit.edu 37 2 240982154 240982154 + Silent SNP G G C rs71420284 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:240982154G>C ENST00000408934.1 - 1 245 c.246C>G c.(244-246)ctC>ctG p.L82L NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 82 Pro-rich. NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 TGTGGGTGAAGAGCCGTGGAT 0.612000 16 83 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78369392 78369392 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:78369392C>A ENST00000278550.7 - 34 8483 c.8021G>T c.(8020-8022)tGc>tTc p.C2674F NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGTGTTCAAGCACAGTGCCCC 0.602000 12 13 3.07112e-06 3.68731e-06 1 1 0 MYF5 4617 broad.mit.edu 37 12 81112714 81112714 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:81112714G>T ENST00000228644.3 + 3 804 c.652G>T c.(652-654)Gag>Tag p.E218* NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 218 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CACCTCCTCAGAGCAACCTGG 0.488000 29 66 9.80776e-20 1.62665e-19 1 1 0 MPPED2 744 broad.mit.edu 37 11 30557678 30557678 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:30557678G>A ENST00000448418.2 - 3 533 c.173C>T c.(172-174)aCg>aTg p.T58M MPPED2_ENST00000358117.5_Missense_Mutation_p.T58M NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 58 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 GACAAACCGCGTGTGGCCCGC 0.483000 4 37 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152682016 152682016 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:152682016C>G ENST00000263985.6 - 1 159 c.119G>C c.(118-120)aGg>aCg p.R40T PET112_ENST00000512306.1_Missense_Mutation_p.R40T|PET112_ENST00000515812.1_Missense_Mutation_p.R40T|PET112_ENST00000508611.1_Missense_Mutation_p.R40T NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 40 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTCTCTCCCCTAATCTGGTT 0.597000 13 51 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45475342 45475342 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:45475342A>G ENST00000361462.2 + 5 2959 c.2776A>G c.(2776-2778)Aaa>Gaa p.K926E KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.K926E|FAM179B_ENST00000361577.3_Missense_Mutation_p.K926E Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 926 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TTTGCCTGATAAAGCTGATTT 0.423000 14 126 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61295529 61295529 + Missense_Mutation SNP C C A rs17849204 by1000genomes TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:61295529C>A ENST00000263846.4 - 5 807 c.480G>T c.(478-480)caG>caT p.Q160H SYT7_ENST00000542836.1_Missense_Mutation_p.Q204H|SYT7_ENST00000542670.1_Missense_Mutation_p.Q368H|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.Q235H|SYT7_ENST00000539008.1_Missense_Mutation_p.Q443H|SYT7_ENST00000535826.1_Missense_Mutation_p.Q279H NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 160 C2 1. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCGGCAGCTCCTGGGCCTTCA 0.607000 52 66 1.35964e-18 2.20132e-18 1 1 0 BNC2 54796 broad.mit.edu 37 9 16419146 16419146 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:16419146C>A ENST00000380672.4 - 7 3198 c.3141G>T c.(3139-3141)aaG>aaT p.K1047N BNC2_ENST00000545497.1_Missense_Mutation_p.K952N|BNC2_ENST00000380667.2_Missense_Mutation_p.K980N NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 1047 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TCAGGGTCCCCTTGTTGCTGT 0.468000 15 46 6.31663e-08 8.30376e-08 1 1 0 ZDHHC6 64429 broad.mit.edu 37 10 114203279 114203279 + Missense_Mutation SNP C C T rs141897265 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:114203279C>T ENST00000369405.3 - 3 776 c.353G>A c.(352-354)tGt>tAt p.C118Y ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C114Y NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 118 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) GTACCTGTTACACTTTCTGCA 0.403000 10 130 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137501538 137501538 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:137501538G>C ENST00000254900.5 - 11 1628 c.1257C>G c.(1255-1257)atC>atG p.I419M BRD8_ENST00000411594.2_Missense_Mutation_p.I422M|BRD8_ENST00000230901.5_Missense_Mutation_p.I492M|BRD8_ENST00000402931.1_Missense_Mutation_p.I419M|BRD8_ENST00000455658.2_Missense_Mutation_p.I378M NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 419 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGATGGCAATGATGTCTCCAA 0.463000 5 85 0 0 1 0 0 RHBDL2 54933 broad.mit.edu 37 1 39352280 39352280 + Missense_Mutation SNP T T C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:39352280T>C ENST00000289248.2 - 8 1816 c.808A>G c.(808-810)Aaa>Gaa p.K270E RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.K350E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.K270E|RHBDL2_ENST00000538156.1_Missense_Mutation_p.K337E Q9NX52 RHBL2_HUMAN rhomboid, veinlet-like 2 (Drosophila) 270 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 8 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AGCAGTGCTTTATCAAAGCAG 0.418000 10 94 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65387893 65387893 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:65387893G>A ENST00000355703.3 + 9 2631 c.2092G>A c.(2092-2094)Gga>Aga p.G698R NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 698 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GACAGCTAATGGAGCCTGGTG 0.612000 14 29 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915112 176915112 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:176915112G>C ENST00000367654.2 - 13 2236 c.2223C>G c.(2221-2223)aaC>aaG p.N741K ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.N733K|ASTN1_ENST00000361833.2_Missense_Mutation_p.N733K|ASTN1_ENST00000367657.3_Missense_Mutation_p.N733K O14525 ASTN1_HUMAN astrotactin 1 741 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGAATGGTTGTTGTAACCAA 0.483000 51 164 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238051727 238051727 + Nonsense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:238051727C>A ENST00000366570.4 - 4 642 c.484G>T c.(484-486)Gga>Tga p.G162* RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 162 P-type. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACAGTCTCCTCGAGAGATG 0.507000 24 73 5.35356e-11 7.62755e-11 1 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212607 26212607 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:26212607C>A ENST00000379034.1 + 2 793 c.644C>A c.(643-645)tCc>tAc p.S215Y NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 215 MAGE. p.S215Y(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AAGAAAGAGTCCATTTTGAAG 0.468000 18 57 7.45023e-12 1.07999e-11 1 1 0 GHR 2690 broad.mit.edu 37 5 42718570 42718570 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:42718570G>C ENST00000230882.4 + 10 1151 c.961G>C c.(961-963)Gag>Cag p.E321Q GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E299Q|GHR_ENST00000537449.1_Missense_Mutation_p.E134Q NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 321 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAAATTAGAGGAGGTGAACAC 0.313000 54 172 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73768561 73768561 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:73768561C>A ENST00000334126.7 - 25 5206 c.4980G>T c.(4978-4980)tcG>tcT p.S1660S C2CD3_ENST00000313663.7_Silent_p.S1660S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1660 C2 2. centrosome p.S1660S(4) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AACTGGGTATCGATACTTTCC 0.448000 20 138 1.64113e-05 1.93014e-05 1 1 0 NEUROD6 63974 broad.mit.edu 37 7 31378610 31378610 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:31378610C>T ENST00000297142.3 - 2 595 c.273G>A c.(271-273)agG>agA p.R91R NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 91 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 TGAACTTGACCCTTTCCAATC 0.493000 31 263 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126792830 126792830 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:126792830G>T ENST00000274473.6 + 26 3510 c.3243G>T c.(3241-3243)gtG>gtT p.V1081V MEGF10_ENST00000503335.2_Silent_p.V1081V NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1081 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AACCTACAGTGAGTGTTGTCC 0.398000 5 75 1.024e-07 1.33674e-07 1 1 0 TPTE 7179 broad.mit.edu 37 21 10970061 10970061 + Splice_Site SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr21:10970061G>T ENST00000298232.7 - 6 434 c.65_splice c.e6-1 p.P23_splice TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.P23_splice|TPTE_ENST00000361285.4_Splice_Site_p.P23_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 23 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTTGTCTGTGGACTAGTGGAT 0.373000 19 152 5.03518e-11 7.21517e-11 1 1 0 ROBO4 54538 broad.mit.edu 37 11 124767120 124767120 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:124767120G>A ENST00000306534.3 - 2 593 c.108C>T c.(106-108)gtC>gtT p.V36V ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Intron NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 36 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCTGGGGGTGGACTAGGATCT 0.652000 4 10 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43002166 43002166 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:43002166A>G ENST00000428554.2 + 9 1154 c.11A>G c.(10-12)gAa>gGa p.E4G CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.E4G|CCDC30_ENST00000342022.4_Missense_Mutation_p.E4G Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 4 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ATGAGCCAAGAAAAAAATGAA 0.333000 10 62 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525180 248525180 + Missense_Mutation SNP C C T rs142091573 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:248525180C>T ENST00000366475.1 + 1 298 c.298C>T c.(298-300)Ctc>Ttc p.L100F NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAATTGTCTCTCATGGACAT 0.502000 23 323 0 0 1 0 0 CTH 1491 broad.mit.edu 37 1 70904452 70904452 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:70904452G>T ENST00000411986.2 + 10 1236 c.1038G>T c.(1036-1038)gtG>gtT p.V346V CTH_ENST00000370938.3_Silent_p.V378V|CTH_ENST00000346806.2_Silent_p.V334V NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 378 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GACTTTCTGTGGGCTTAGAGG 0.428000 30 89 1.62565e-12 2.38428e-12 1 1 0 VCP 7415 broad.mit.edu 37 9 35059077 35059077 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:35059077G>A ENST00000358901.6 - 15 3039 c.2144C>T c.(2143-2145)aCa>aTa p.T715I NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 715 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGATGGGTTTGTCTGCCTCTC 0.547000 13 99 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21224686 21224686 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:21224686C>T ENST00000233242.1 - 29 13735 c.13608G>A c.(13606-13608)acG>acA p.T4536T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4536 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.T4536T(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCAGTAACTCCGTGATGTATA 0.363000 7 127 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48536592 48536592 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:48536592C>G ENST00000358350.4 - 49 7279 c.6675G>C c.(6673-6675)gaG>gaC p.E2225D FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2225D|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2225D NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2225 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCTTTATGATCTCCAGATTAA 0.333000 3 35 0 0 1 0 0 SLC39A9 55334 broad.mit.edu 37 14 69925101 69925101 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:69925101G>C ENST00000031146.4 + 6 1195 c.517G>C c.(517-519)Gag>Cag p.E173Q SLC39A9_ENST00000336643.5_Missense_Mutation_p.E239Q|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E216Q|SLC39A9_ENST00000556605.1_Intron Q9NUM3 S39A9_HUMAN solute carrier family 39, member 9 239 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) AGCCCTTTCAGAGGTGAACGC 0.468000 7 177 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132937864 132937864 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:132937864G>C ENST00000253861.4 + 1 36 c.7G>C c.(7-9)Gca>Cca p.A3P EXOC4_ENST00000393161.2_Missense_Mutation_p.A3P NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 3 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CAAGATGGCGGCAGAAGCAGC 0.577000 12 73 0 0 1 0 0 TCL1B 9623 broad.mit.edu 37 14 96152829 96152829 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:96152829C>A ENST00000340722.7 + 1 76 c.25C>A c.(25-27)Cta>Ata p.L9I RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 9 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TTCTGTGCGTCTAGGGGTGCC 0.602000 17 77 3.45872e-05 4.02978e-05 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113078056 113078056 + Silent SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:113078056G>C ENST00000316851.7 + 5 672 c.672G>C c.(670-672)gtG>gtC p.V224V NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.V116V|NCAM1_ENST00000401611.2_Silent_p.V233V NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 234 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCACCCTGGTGTGCGATGCCG 0.537000 26 85 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41377671 41377671 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:41377671C>T ENST00000361937.3 - 7 1193 c.769G>A c.(769-771)Gat>Aat p.D257N INO80_ENST00000401393.3_Missense_Mutation_p.D257N Q9ULG1 INO80_HUMAN INO80 complex subunit 257 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGAGGTGCATCGTGAGAAAAC 0.458000 11 93 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161524799 161524799 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:161524799C>A ENST00000356592.3 + 4 943 c.483C>A c.(481-483)caC>caA p.H161Q GABRG2_ENST00000361925.4_Missense_Mutation_p.H161Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.H161Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.H66Q NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 161 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) CTGATGCACACTGGATCACCA 0.428000 29 80 4.22769e-11 6.0697e-11 1 1 0 C12orf39 80763 broad.mit.edu 37 12 21680124 21680124 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:21680124C>T ENST00000256969.2 + 3 309 c.143C>T c.(142-144)gCa>gTa p.A48V NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN chromosome 12 open reading frame 39 48 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 CTGAAAGGGGCACGTAAGTTC 0.458000 37 60 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020721 32020721 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:32020721C>T ENST00000375244.3 - 26 9042 c.8841G>A c.(8839-8841)ccG>ccA p.P2947P TNXB_ENST00000375247.2_Silent_p.P2945P P22105 TENX_HUMAN tenascin XB 2992 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGGGGCTCCGGGGCCTCCG 0.657000 16 61 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118315520 118315520 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:118315520G>C ENST00000369221.2 + 9 848 c.820G>C c.(820-822)Gac>Cac p.D274H NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 274 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGGGACTCGAGACTTTGCGGC 0.393000 19 125 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912812 77912812 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chrX:77912812A>G ENST00000321110.1 - 2 1401 c.1106T>C c.(1105-1107)aTa>aCa p.I369T NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 369 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TTCATCTTGTATAGAACTGGC 0.488000 19 32 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11772454 11772454 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:11772454C>T ENST00000262442.3 + 51 10005 c.9937C>T c.(9937-9939)Ctt>Ttt p.L3313F DNAH9_ENST00000454412.2_Missense_Mutation_p.L3313F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3313 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TAAACAGCACCTTAATGAAAA 0.473000 23 72 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187558970 187558970 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:187558970C>G ENST00000304698.5 + 1 273 c.70C>G c.(70-72)Cgg>Ggg p.R24G AC017101.10_ENST00000453665.1_RNA NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 24 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GCTGAAAGCGCGGCTGGTCCC 0.662000 4 18 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616407 116616407 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:116616407G>T ENST00000395715.3 - 4 2366 c.1789C>A c.(1789-1791)Ccg>Acg p.P597T TRPS1_ENST00000520276.1_Missense_Mutation_p.P588T|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.P584T|TRPS1_ENST00000519674.1_Missense_Mutation_p.P584T NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 584 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CAAGCAAACGGATAAGTAATT 0.468000 Langer-Giedion syndrome 7 44 2.7689e-08 3.67222e-08 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110737302 110737302 + Silent SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:110737302C>T ENST00000331565.4 + 9 1886 c.1401C>T c.(1399-1401)atC>atT p.I467I SLC6A17_ENST00000465159.1_3'UTR NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 467 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TGATGCTTATCAACCTGGGCC 0.592000 10 50 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8007650 8007650 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:8007650A>G ENST00000344293.5 + 3 2383 c.2177A>G c.(2176-2178)gAg>gGg p.E726G NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 726 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 agagagaaagagaagagagag 0.383000 9 36 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106456569 106456569 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:106456569G>T ENST00000407775.2 + 3 511 c.261G>T c.(259-261)ccG>ccT p.P87P ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 87 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGAGAAACCGGGGCAACCTG 0.443000 7 20 0.000157383 0.000176761 1 1 0 MEOX2 4223 broad.mit.edu 37 7 15652023 15652023 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:15652023C>A ENST00000262041.5 - 3 1313 c.904G>T c.(904-906)Gcg>Tcg p.A302S NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 302 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CATAAGTGCGCATGCTCTGAG 0.478000 11 76 0.000978159 0.00105275 1 1 0 C2CD2L 9854 broad.mit.edu 37 11 118983228 118983228 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:118983228C>T ENST00000336702.3 + 9 1480 c.1121C>T c.(1120-1122)tCc>tTc p.S374F C2CD2L_ENST00000528586.1_Missense_Mutation_p.S122F NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 374 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 CCTGTGGGCTCCCCCTCCAGA 0.652000 10 169 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25591900 25591900 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:25591900G>T ENST00000269141.3 - 4 879 c.456C>A c.(454-456)ggC>ggA p.G152G CDH2_ENST00000399380.3_Silent_p.G121G NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 152 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTGTAGGTGGCCACTGTGCT 0.453000 10 100 0.000442599 0.000484012 1 1 0 TTN 7273 broad.mit.edu 37 2 179437771 179437771 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:179437771G>T ENST00000589042.1 - 326 73312 c.73088C>A c.(73087-73089)gCc>gAc p.A24363D TTN_ENST00000460472.2_Missense_Mutation_p.A15298D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A22722D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15490D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21795D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15423D|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22722 Fibronectin type-III 77. 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) CTCTGGCAGGGCAATCTCAAC 0.448000 4 27 0.00909568 0.0094494 1 1 0 DAB2IP 153090 broad.mit.edu 37 9 124536647 124536647 + Missense_Mutation SNP A A T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:124536647A>T ENST00000408936.3 + 13 3258 c.3076A>T c.(3076-3078)Agg>Tgg p.R1026W DAB2IP_ENST00000259371.2_Missense_Mutation_p.R998W|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R902W Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 1026 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCCCCCCCACAGGGATAGGCT 0.637000 4 24 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45645568 45645568 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr14:45645568G>T ENST00000267430.5 + 14 3696 c.3611G>T c.(3610-3612)cGt>cTt p.R1204L FANCM_ENST00000542564.2_Missense_Mutation_p.R1178L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1204 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTTAAATCTCGTGATCAGAGA 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 61 0.00010058 0.000113991 1 1 0 ATP1A3 478 broad.mit.edu 37 19 42471895 42471895 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:42471895C>A ENST00000545399.1 - 21 3032 c.2879G>T c.(2878-2880)gGg>gTg p.G960V ATP1A3_ENST00000602133.1_Missense_Mutation_p.G917V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G947V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G958V NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 947 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CTCAAACAGCCCGAAGATCAG 0.667000 17 27 1.45105e-14 2.22872e-14 1 1 0 HELZ 9931 broad.mit.edu 37 17 65103393 65103393 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:65103393C>A ENST00000358691.5 - 31 5299 c.5133G>T c.(5131-5133)caG>caT p.Q1711H HELZ_ENST00000580168.1_Missense_Mutation_p.Q1712H NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CAAAAGGGTTCTGCGGTGGCC 0.473000 35 218 3.90053e-15 6.04057e-15 1 1 0 NKIRAS2 28511 broad.mit.edu 37 17 40174504 40174504 + Missense_Mutation SNP A A G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:40174504A>G ENST00000307641.5 + 3 803 c.182A>G c.(181-183)gAc>gGc p.D61G NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.D61G|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000479407.1_Intron|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.D61G|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.D59G NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 61 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CGTTTCTATGACACCCGGGGG 0.562000 5 29 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105158243 105158243 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:105158243G>C ENST00000369797.3 + 2 154 c.60G>C c.(58-60)gaG>gaC p.E20D NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 20 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACAAACCAGAGAAAGCTTTCC 0.418000 8 37 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134145720 134145720 + Silent SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:134145720C>A ENST00000220616.4 + 47 8044 c.8004C>A c.(8002-8004)ccC>ccA p.P2668P TG_ENST00000519543.1_Silent_p.P801P|TG_ENST00000542445.1_Silent_p.P1038P|TG_ENST00000377869.1_Silent_p.P2611P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2668 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAGAAATCCCAACTACCCTT 0.473000 7 113 0.0581538 0.0590217 1 1 0 INTS7 25896 broad.mit.edu 37 1 212193585 212193585 + Missense_Mutation SNP G G C TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:212193585G>C ENST00000366994.3 - 3 354 c.250C>G c.(250-252)Ctt>Gtt p.L84V INTS7_ENST00000440600.2_Intron|INTS7_ENST00000366992.3_Missense_Mutation_p.L84V|INTS7_ENST00000366993.3_Missense_Mutation_p.L84V|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 84 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GTAACTTTAAGAACACATAGC 0.294000 5 26 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50594820 50594820 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:50594820C>A ENST00000374139.2 - 4 329 c.319G>T c.(319-321)Gca>Tca p.A107S DRGX_ENST00000434016.1_Missense_Mutation_p.A112S C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 112 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GTCACCTCTGCCATGGGCTCC 0.607000 32 93 1.45844e-13 2.19058e-13 1 1 0 CER1 9350 broad.mit.edu 37 9 14722195 14722195 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:14722195C>A ENST00000380911.3 - 1 520 c.476G>T c.(475-477)tGg>tTg p.W159L NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 159 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) GCAGGTCTCCCAATGTACTTC 0.527000 15 46 0.000422831 0.000464432 1 1 0 ADRA2A 150 broad.mit.edu 37 10 112838897 112838897 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr10:112838897G>A ENST00000280155.2 + 1 2108 c.1143G>A c.(1141-1143)caG>caA p.Q381Q NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 366 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) GCGGGCGGCAGAACCGCGAGA 0.731000 27 138 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13386728 13386728 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:13386728G>T ENST00000360228.5 - 24 3924 c.3925C>A c.(3925-3927)Cgt>Agt p.R1309S CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1310S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1310 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAGAGGTCACGGAAGTAGGCA 0.572000 12 21 1.05317e-09 1.44017e-09 1 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48594812 48594812 + Splice_Site SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:48594812C>A ENST00000323776.5 + 3 654 c.493_splice c.e3+1 p.S164_splice MYCBPAP_ENST00000436259.2_Splice_Site_p.S127_splice NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 127 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGGACTACTCCGGTACACCCA 0.517000 43 111 3.4345e-17 5.51288e-17 1 1 0 CORO6 84940 broad.mit.edu 37 17 27944550 27944550 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr17:27944550T>A ENST00000345068.5 - 6 934 c.721A>T c.(721-723)Atg>Ttg p.M241L CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.M241L|CORO6_ENST00000445145.2_Intron|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000580212.1_Intron Q6QEF8 CORO6_HUMAN coronin 6 241 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 CGCTGGCTCATGCGGGTGAAG 0.697000 10 25 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172942530 172942530 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:172942530T>A ENST00000315796.4 + 7 1097 c.710T>A c.(709-711)aTa>aAa p.I237K METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 237 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TAAAGCCACATAACTCATCAG 0.303000 8 66 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106118662 106118662 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:106118662G>A ENST00000375936.3 + 1 71 c.25G>A c.(25-27)Gat>Aat p.D9N DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR NM_001161812.1|NM_172370.3 NP_001155284.1|NP_758958.3 P59103 DAOA_HUMAN D-amino acid oxidase activator 9 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) gatgggtgctgattctctcca 0.517000 16 52 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577060 232577060 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:232577060C>A ENST00000366630.1 - 13 3977 c.3619G>T c.(3619-3621)Gat>Tat p.D1207Y SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1207Y|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D281Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1207 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTGGGGGAATCTTTGCAACTT 0.468000 106 413 1.65916e-42 3.00497e-42 1 1 0 CPO 130749 broad.mit.edu 37 2 207827201 207827201 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:207827201G>T ENST00000272852.3 + 7 686 c.640G>T c.(640-642)Gag>Tag p.E214* NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 214 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GTCTGAACCAGAGACTAAAGC 0.453000 38 111 9.73076e-26 1.68097e-25 1 1 0 TRIM55 84675 broad.mit.edu 37 8 67062624 67062624 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:67062624G>A ENST00000315962.4 + 7 1281 c.908G>A c.(907-909)gGc>gAc p.G303D TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.G303D|TRIM55_ENST00000353317.5_Missense_Mutation_p.G303D NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 303 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ATAGAACATGGCTATGAGAAC 0.368000 7 102 0 0 1 0 0 BIRC7 79444 broad.mit.edu 37 20 61867617 61867617 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:61867617G>T ENST00000217169.3 + 1 383 c.169G>T c.(169-171)Ggc>Tgc p.G57C BIRC7_ENST00000342412.6_Missense_Mutation_p.G57C NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 57 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) GCAGATCCTGGGCCAGCTGCG 0.701000 5 18 0.00116845 0.00125035 1 1 0 ZNF334 55713 broad.mit.edu 37 20 45129982 45129982 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr20:45129982G>A ENST00000457685.2 - 6 3205 c.1882C>T c.(1882-1884)Cgc>Tgc p.R628C ZNF334_ENST00000593880.1_Missense_Mutation_p.R689C|ZNF334_ENST00000347606.4_Missense_Mutation_p.R666C Q9HCZ1 ZN334_HUMAN zinc finger protein 334 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GATTTGTGGCGAAATGTTTTC 0.358000 21 99 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21783467 21783467 + Splice_Site SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:21783467T>A ENST00000382254.1 - 11 2479 c.1393_splice c.e11+1 p.S465_splice CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Splice_Site_p.S465_splice|CDH12_ENST00000522262.1_Splice_Site_p.S425_splice NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 465 Cadherin 4. 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 CCATACTTACTAACTTTACTC 0.368000 HNSCC(59;0.17) 14 107 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 49042449 49042449 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr22:49042449C>A ENST00000358295.5 + 2 307 c.132C>A c.(130-132)gaC>gaA p.D44E FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.D51E NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 51 extracellular region|integral to membrane p.D44D(1)|p.D51D(1) large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) TGACCTTGGACCGGGACAGCA 0.677000 6 33 0.00116845 0.00125035 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99534187 99534187 + Silent SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr13:99534187G>A ENST00000376460.1 - 24 2714 c.2634C>T c.(2632-2634)ctC>ctT p.L878L DOCK9_ENST00000442173.1_Silent_p.L878L|DOCK9_ENST00000448493.2_Silent_p.L890L|DOCK9_ENST00000339416.2_Silent_p.L879L NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 879 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGCTCTGGTGAGGACTCGGA 0.532000 4 7 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732605 152732605 + Missense_Mutation SNP C C A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:152732605C>A ENST00000368773.1 + 2 599 c.541C>A c.(541-543)Cag>Aag p.Q181K KPRP_ENST00000606109.1_Missense_Mutation_p.Q181K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 181 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATTCTCCACCCAGTGCCAGTA 0.557000 46 139 3.05275e-18 4.93187e-18 1 1 0 EPG5 57724 broad.mit.edu 37 18 43531136 43531136 + Missense_Mutation SNP T T G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:43531136T>G ENST00000282041.5 - 4 1355 c.1321A>C c.(1321-1323)Atg>Ctg p.M441L NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 441 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTGGTGAACATGAATAAGACA 0.383000 4 28 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205196 66205196 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:66205196G>T ENST00000503581.1 - 4 645 c.108C>A c.(106-108)ccC>ccA p.P36P EYS_ENST00000370621.3_Silent_p.P36P|EYS_ENST00000342421.5_Silent_p.P36P|EYS_ENST00000393380.2_Silent_p.P36P|EYS_ENST00000370618.3_Silent_p.P36P|EYS_ENST00000370616.2_Silent_p.P36P NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 36 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CATATGATGAGGGTTGTGGAT 0.388000 31 131 4.02929e-09 5.46988e-09 1 1 0 ZFYVE16 9765 broad.mit.edu 37 5 79743953 79743953 + Missense_Mutation SNP C C T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:79743953C>T ENST00000338008.5 + 7 3013 c.2833C>T c.(2833-2835)Cca>Tca p.P945S ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P945S|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P945S NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 945 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TTCTCAGGTTCCATCAGTGGA 0.383000 9 51 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74680239 74680239 + Nonsense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr18:74680239G>T ENST00000253159.8 + 31 5680 c.5482G>T c.(5482-5484)Gag>Tag p.E1828* ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E1830* NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1828 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCTCCACCTGGAGGAGGTGGT 0.587000 17 78 1.15088e-07 1.48424e-07 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43626729 43626729 + Missense_Mutation SNP T T A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr9:43626729T>A ENST00000332857.6 - 4 1986 c.1958A>T c.(1957-1959)cAg>cTg p.Q653L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCACCTTCTGTGCCTCCTT 0.557000 29 77 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139601675 139601675 + Missense_Mutation SNP C C G TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:139601675C>G ENST00000303045.6 - 65 5148 c.4702G>C c.(4702-4704)Ggg>Cgg p.G1568R COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1568 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGTTCCCCGGGTTGACCT 0.577000 HNSCC(7;0.00092) 8 12 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120629471 120629471 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:120629471G>A ENST00000427067.2 - 7 758 c.578C>T c.(577-579)aCa>aTa p.T193I ENPP2_ENST00000259486.6_Missense_Mutation_p.T197I|ENPP2_ENST00000075322.6_Missense_Mutation_p.T197I|ENPP2_ENST00000522826.1_Missense_Mutation_p.T197I Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 197 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGGAGAGTGTGTGCCACAAGA 0.378000 16 66 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996267 120996267 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:120996267G>A ENST00000392793.1 + 8 1731 c.1460G>A c.(1459-1461)gGa>gAa p.G487E TECTA_ENST00000264037.2_Missense_Mutation_p.G487E O75443 TECTA_HUMAN tectorin alpha 487 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGGATCTGGGAGAGAGCTGG 0.577000 7 179 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94502755 94502755 + Silent SNP C C A rs147884766 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:94502755C>A ENST00000370225.3 - 25 3845 c.3759G>T c.(3757-3759)acG>acT p.T1253T NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1253 T -> M (in FFM; could be a rare polymorphism). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGTCAGCCAGCGTCTCCTCCA 0.483000 22 104 6.44725e-10 8.8813e-10 1 1 0 RHBDD1 84236 broad.mit.edu 37 2 227729482 227729482 + Missense_Mutation SNP A A T rs147490611 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:227729482A>T ENST00000392062.2 + 4 597 c.73A>T c.(73-75)Aac>Tac p.N25Y RHBDD1_ENST00000341329.3_Missense_Mutation_p.N25Y NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 25 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TGTTGGGATCAACAATATTCC 0.458000 36 152 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558713 210558713 + Missense_Mutation SNP G G A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:210558713G>A ENST00000360351.4 + 7 2325 c.1819G>A c.(1819-1821)Gat>Aat p.D607N MAP2_ENST00000447185.1_Missense_Mutation_p.D603N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 607 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAGTCTATTGATACCATGTC 0.438000 18 67 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99156727 99156727 + Frame_Shift_Del DEL A A - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr1:99156727delA ENST00000370189.5 + 4 632 c.268delA c.(268-270)ctfs p.T90fs SNX7_ENST00000306121.3_Frame_Shift_Del_p.T154fs|SNX7_ENST00000529992.1_Frame_Shift_Del_p.T154fs Q9UNH6 SNX7_HUMAN sorting nexin 7 90 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) AGCACACCCCACTCTGATTAT 0.373 15 39 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207431999 207431999 + Frame_Shift_Del DEL T T - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr2:207431999delT ENST00000264377.3 + 15 1775 c.1447delT c.(1447-1449)ttfs p.F483fs ADAM23_ENST00000374416.1_Frame_Shift_Del_p.F483fs|ADAM23_ENST00000374415.3_Frame_Shift_Del_p.F483fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 483 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GTATAGAGACTTTTTACAGAG 0.358 41 96 --- --- --- --- CRMP1 1400 broad.mit.edu 37 4 5862865 5862865 + Frame_Shift_Del DEL G G - rs145307270 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr4:5862865delG ENST00000324989.7 - 3 631 c.543delC c.(541-543)ccfs p.P181fs CRMP1_ENST00000397890.2_Frame_Shift_Del_p.P67fs|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P65fs NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 67 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CAATACCTCCGGGAATAACCA 0.552 14 117 --- --- --- --- EEF1E1 9521 broad.mit.edu 37 6 8097553 8097553 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:8097553delC ENST00000379715.5 - 2 291 c.235delG c.(235-237)tcfs p.V79fs EEF1E1_ENST00000507463.1_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000429723.2_Frame_Shift_Del_p.V79fs|EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Del_p.V79fs NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 79 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) ACTTGAGTGACCCTGTATTCT 0.418 46 221 --- --- --- --- HIST1H3E 8353 broad.mit.edu 37 6 26225624 26225624 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr6:26225624delC ENST00000360408.1 + 1 242 c.242delC c.(241-243)acfs p.T81fs NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 81 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GACTTCAAGACCGACCTGCGC 0.592 14 82 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114282627 114282627 + Frame_Shift_Del DEL A A - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:114282627delA ENST00000393500.3 + 13 1533 c.713delA c.(712-714)ctfs p.H239fs FOXP2_ENST00000408937.3_Frame_Shift_Del_p.H339fs|FOXP2_ENST00000393494.2_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000403559.4_Frame_Shift_Del_p.H331fs|FOXP2_ENST00000393489.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000393491.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000378237.3_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000350908.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000393498.2_Frame_Shift_Del_p.H293fs|FOXP2_ENST00000390668.3_Frame_Shift_Del_p.H338fs|FOXP2_ENST00000360232.4_Frame_Shift_Del_p.H314fs O15409 FOXP2_HUMAN forkhead box P2 314 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CCAATAACTCATCATTCCATA 0.388 18 161 --- --- --- --- KCND2 3751 broad.mit.edu 37 7 120382616 120382616 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr7:120382616delC ENST00000331113.4 + 4 2392 c.1427delC c.(1426-1428)acfs p.T476fs NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 476 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AGCTTTGAAACCCAGCACCAC 0.453 24 141 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77618211 77618211 + Frame_Shift_Del DEL G G - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr8:77618211delG ENST00000521891.2 + 2 2336 c.1888delG c.(1888-1890)gtfs p.G630fs ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.G630fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 630 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) GTCTCTTGGTGGTCATATGAC 0.527 HNSCC(33;0.089) 23 50 --- --- --- --- IFNG-AS1 100885789 broad.mit.edu 37 12 68429882 68429882 + RNA DEL T T - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr12:68429882delT ENST00000536914.1 + 0 336 AAGAAGACACTGAAGAACATC 0.413 20 46 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 9 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 7 56 --- --- --- --- BAIAP3 8938 broad.mit.edu 37 16 1395754 1395754 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr16:1395754delC ENST00000324385.5 + 23 2334 c.2176delC c.(2176-2178)ccfs p.P726fs BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.P663fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.P668fs|BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.P691fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.P655fs NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 726 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) cTAGCTGGAGCCCGTGGACGC 0.711 2 4 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9046473 9046473 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9046473delC ENST00000397910.4 - 5 35361 c.35158delG c.(35158-35160)ccfs p.A11720fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11722 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACTGGTGGCCATTACAGGT 0.517 55 118 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9087356 9087357 + Frame_Shift_Ins INS - - A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:9087356_9087357insA ENST00000397910.4 - 1 4661_4662 c.4458_4459insT c.(4456-4461)ttctatfs p.Y1487fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1487 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAAAATAGCAAATGTACTCA 0.431 55 157 --- --- --- --- KIRREL2 84063 broad.mit.edu 37 19 36357405 36357406 + Frame_Shift_Ins INS - - T rs148345309 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 c322f1e3-cf36-4f3a-9dca-18ec91ff9136 g.chr19:36357405_36357406insT ENST00000347900.6 + 15 1929_1930 c.1719_1720insT c.(1717-1722)caggaafs p.QE573fs KIRREL2_ENST00000262625.7_Frame_Shift_Ins_p.QE623fs|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000586102.2_3'UTR|KIRREL2_ENST00000360202.5_3'UTR NM_199179.2 NP_954648.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 0 cell adhesion integral to membrane|plasma membrane p.W624R(1) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATCTTTCCAATGGAAGAGTCC 0.559 45 116 --- --- --- --- SNX7 51375 broad.mit.edu 37 1 99156727 99156727 + Frame_Shift_Del DEL A A - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr1:99156727delA ENST00000370189.5 + 4 632 c.268delA c.(268-270)ctfs p.T90fs SNX7_ENST00000306121.3_Frame_Shift_Del_p.T154fs|SNX7_ENST00000529992.1_Frame_Shift_Del_p.T154fs Q9UNH6 SNX7_HUMAN sorting nexin 7 90 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) AGCACACCCCACTCTGATTAT 0.373 15 39 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207431999 207431999 + Frame_Shift_Del DEL T T - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr2:207431999delT ENST00000264377.3 + 15 1775 c.1447delT c.(1447-1449)ttfs p.F483fs ADAM23_ENST00000374415.3_Frame_Shift_Del_p.F483fs|ADAM23_ENST00000374416.1_Frame_Shift_Del_p.F483fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 483 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GTATAGAGACTTTTTACAGAG 0.358 41 96 --- --- --- --- CRMP1 1400 broad.mit.edu 37 4 5862865 5862865 + Frame_Shift_Del DEL G G - rs145307270 TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr4:5862865delG ENST00000324989.7 - 3 631 c.543delC c.(541-543)ccfs p.P181fs CRMP1_ENST00000397890.2_Frame_Shift_Del_p.P67fs|CRMP1_ENST00000512574.1_Frame_Shift_Del_p.P65fs|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 67 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CAATACCTCCGGGAATAACCA 0.552 14 117 --- --- --- --- PCSK1 5122 broad.mit.edu 37 5 95729069 95729070 + Frame_Shift_Del DEL TG TG - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr5:95729069_95729070delTG ENST00000311106.3 - 14 2134_2135 c.1897_1898delCA c.(1897-1899)afs p.Q633fs PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Frame_Shift_Del_p.Q586fs|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 633 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGGTTCTCTTGTGTGGGCTGC 0.559 11 42 --- --- --- --- EEF1E1 9521 broad.mit.edu 37 6 8097553 8097553 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:8097553delC ENST00000379715.5 - 2 291 c.235delG c.(235-237)tcfs p.V79fs EEF1E1-MUTED_ENST00000397456.2_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000507463.1_Frame_Shift_Del_p.V79fs|EEF1E1_ENST00000429723.2_Frame_Shift_Del_p.V79fs NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 79 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) ACTTGAGTGACCCTGTATTCT 0.418 46 221 --- --- --- --- HIST1H3E 8353 broad.mit.edu 37 6 26225624 26225624 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr6:26225624delC ENST00000360408.1 + 1 242 c.242delC c.(241-243)acfs p.T81fs NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 81 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) GACTTCAAGACCGACCTGCGC 0.592 14 82 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114282627 114282627 + Frame_Shift_Del DEL A A - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:114282627delA ENST00000393500.3 + 13 1533 c.713delA c.(712-714)ctfs p.H239fs FOXP2_ENST00000360232.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000378237.3_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000390668.3_Frame_Shift_Del_p.H338fs|FOXP2_ENST00000393498.2_Frame_Shift_Del_p.H293fs|FOXP2_ENST00000403559.4_Frame_Shift_Del_p.H331fs|FOXP2_ENST00000393491.3_Frame_Shift_Del_p.H222fs|FOXP2_ENST00000350908.4_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000408937.3_Frame_Shift_Del_p.H339fs|FOXP2_ENST00000393494.2_Frame_Shift_Del_p.H314fs|FOXP2_ENST00000393489.3_Frame_Shift_Del_p.H222fs O15409 FOXP2_HUMAN forkhead box P2 314 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CCAATAACTCATCATTCCATA 0.388 18 161 --- --- --- --- KCND2 3751 broad.mit.edu 37 7 120382616 120382616 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr7:120382616delC ENST00000331113.4 + 4 2392 c.1427delC c.(1426-1428)acfs p.T476fs NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 476 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AGCTTTGAAACCCAGCACCAC 0.453 24 141 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77618211 77618211 + Frame_Shift_Del DEL G G - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr8:77618211delG ENST00000521891.2 + 2 2336 c.1888delG c.(1888-1890)gtfs p.G630fs ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.G630fs|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 630 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) GTCTCTTGGTGGTCATATGAC 0.527 HNSCC(33;0.089) 23 50 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 9 458 --- --- --- --- IFNG-AS1 100885789 broad.mit.edu 37 12 68429882 68429882 + RNA DEL T T - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr12:68429882delT ENST00000536914.1 + 0 336 AAGAAGACACTGAAGAACATC 0.413 20 46 --- --- --- --- MORF4L1 10933 broad.mit.edu 37 15 79186527 79186527 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr15:79186527delC ENST00000331268.5 + 11 1078 c.874delC c.(874-876)ccfs p.P292fs MORF4L1_ENST00000379535.4_Frame_Shift_Del_p.P278fs|MORF4L1_ENST00000426013.2_Frame_Shift_Del_p.P253fs|MORF4L1_ENST00000559345.1_Frame_Shift_Del_p.P165fs|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Frame_Shift_Del_p.P165fs|MORF4L1_ENST00000558746.1_Frame_Shift_Del_p.P226fs NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 292 Sufficient for interaction with PHF12. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 TCCCGATGCACCCATGTCCCA 0.403 46 121 --- --- --- --- BAIAP3 8938 broad.mit.edu 37 16 1395754 1395754 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr16:1395754delC ENST00000324385.5 + 23 2334 c.2176delC c.(2176-2178)ccfs p.P726fs BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.P691fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.P708fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.P663fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.P655fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.P668fs NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 726 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) cTAGCTGGAGCCCGTGGACGC 0.711 2 4 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9046473 9046473 + Frame_Shift_Del DEL C C - TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:9046473delC ENST00000397910.4 - 5 35361 c.35158delG c.(35158-35160)ccfs p.A11720fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11722 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGACTGGTGGCCATTACAGGT 0.517 55 118 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9087356 9087357 + Frame_Shift_Ins INS - - A TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:9087356_9087357insA ENST00000397910.4 - 1 4661_4662 c.4458_4459insT c.(4456-4461)ttctatfs p.Y1487fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1487 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAAAATAGCAAATGTACTCA 0.431 55 157 --- --- --- --- KIRREL2 84063 broad.mit.edu 37 19 36357405 36357406 + Frame_Shift_Ins INS - - T rs148345309 byFrequency TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx c35f0ace-0012-4ad4-90de-617f5d764f42 06ffed9c-e5b7-421f-8536-78d7b0971e8b g.chr19:36357405_36357406insT ENST00000347900.6 + 15 1929_1930 c.1719_1720insT c.(1717-1722)caggaafs p.QE573fs KIRREL2_ENST00000360202.5_3'UTR|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000262625.7_Frame_Shift_Ins_p.QE623fs|KIRREL2_ENST00000586102.2_3'UTR NM_199179.2 NP_954648.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 0 cell adhesion integral to membrane|plasma membrane p.W624R(1) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATCTTTCCAATGGAAGAGTCC 0.559 45 116 --- --- --- ---