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 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 3 47 0 0 0.009096 0 0 S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Missense_Mutation SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr1:153362715T>C ENST00000368733.3 - 3 315 c.146A>G c.(145-147)aAg>aGg p.K49R S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507000 3 149 0 0 0.004672 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457286 66457286 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:66457286G>A ENST00000533211.1 - 29 6270 c.5939C>T c.(5938-5940)gCg>gTg p.A1980V SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1980 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTCCTCGGCCGCATAGTGGCT 0.602000 4 141 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179412752 179412752 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr2:179412752A>G ENST00000589042.1 - 339 93825 c.93601T>C c.(93601-93603)Ttc>Ctc p.F31201L TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29560L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29560 Fibronectin type-III 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1) 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) ACAGAAGAGAAGGCTTCTCTG 0.443000 33 52 0 0 0.012213 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409276 17409276 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:17409276G>A ENST00000339994.4 - 1 930 c.363C>T c.(361-363)ttC>ttT p.F121F KCNJ11_ENST00000528731.1_Silent_p.F34F NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 34 integral to membrane ATP-activated inward rectifier potassium channel activity p.F121F(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) TGGAGAAAAGGAAGGCAGACG 0.607000 8 41 0 0 0.006214 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 86 0 0 0.000602 0 0 CCDC34 91057 broad.mit.edu 37 11 27379087 27379087 + Splice_Site SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:27379087T>C ENST00000317945.6 - 2 400 c.359_splice c.e2-1 p.T121_splice CCDC34_ENST00000328697.6_Splice_Site_p.T121_splice NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 121 p.T121A(2) endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 TCAACCTGAGTGCTACAAAAG 0.398000 17 75 0 0 0.004990 0 0 DENND2D 79961 broad.mit.edu 37 1 111737241 111737241 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr1:111737241G>A ENST00000357640.4 - 7 982 c.753C>T c.(751-753)gcC>gcT p.A251A DENND2D_ENST00000369752.5_Silent_p.A248A NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 251 DENN. p.A251A(1) breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TCTCCAGCACGGCAGAGGCAA 0.537000 13 55 0 0 0.001855 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409274 17409274 + Missense_Mutation SNP A A C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:17409274A>C ENST00000339994.4 - 1 932 c.365T>G c.(364-366)cTt>cGt p.L122R KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 35 integral to membrane ATP-activated inward rectifier potassium channel activity p.L122R(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) AATGGAGAAAAGGAAGGCAGA 0.607000 8 41 0 0 0.004482 0 0 KRT222 125113 broad.mit.edu 37 17 38821349 38821349 + Translation_Start_Site SNP C C A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr17:38821349C>A ENST00000476049.1 - 1 44 c.3G>T c.(1-3)atG>atT p.M1I KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I Q8N1A0 KT222_HUMAN keratin 222 1 intermediate filament structural molecule activity p.M1I(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 GGGACAGTTCCATTCTTTTCC 0.512000 4 125 0.00024832 0.000292141 0.009096 1 0 OR10G8 219869 broad.mit.edu 37 11 123900753 123900753 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:123900753C>T ENST00000431524.1 + 1 457 c.424C>T c.(424-426)Ctt>Ttt p.L142F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L142F(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;0.0521) CTCGTGTACTCTTCTGGCCAC 0.557000 6 152 0 0 0.001168 0 0 CABP5 56344 broad.mit.edu 37 19 48533840 48533840 + Splice_Site SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr19:48533840C>T ENST00000293255.2 - 6 627 c.e6-1 NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 signal transduction cytoplasm calcium ion binding p.?(1) endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TTCACAAACTCTGCAAAGAAA 0.493000 31 62 0 0 0.003755 0 0 MPEG1 219972 broad.mit.edu 37 11 58978336 58978336 + Missense_Mutation SNP A A C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:58978336A>C ENST00000361050.3 - 1 2088 c.2003T>G c.(2002-2004)cTg>cGg p.L668R NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 668 integral to membrane p.L668R(1) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) AACAACAGCCAGAATGGTGGT 0.557000 32 79 0 0 0.013726 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 24 0 0 0.009096 0 0 ATF6B 1388 broad.mit.edu 37 6 32093899 32093899 + Missense_Mutation SNP G G T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr6:32093899G>T ENST00000375201.4 - 5 509 c.464C>A c.(463-465)tCc>tAc p.S155Y ATF6B_ENST00000375203.3_Missense_Mutation_p.S158Y|ATF6B_ENST00000468502.1_5'UTR Q99941 ATF6B_HUMAN activating transcription factor 6 beta 158 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S158Y(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 ATTACCTGAGGAATCATCAGA 0.507000 42 81 5.7616e-29 7.51513e-29 0.014410 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128983512 128983512 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr5:128983512G>A ENST00000274487.4 + 12 2054 c.1909G>A c.(1909-1911)Gga>Aga p.G637R CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 637 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G637R(2) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACATCTGGCCGGAGAGTGGAG 0.522000 55 27 0 0 0.014410 0 0 FOXC1 2296 broad.mit.edu 37 6 1611154 1611154 + Silent SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr6:1611154C>T ENST00000380874.2 + 1 474 c.474C>T c.(472-474)tcC>tcT p.S158S NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 158 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|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|transcription regulatory region DNA binding p.S158S(2) large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) ACCCGGACTCCTACAACATGT 0.627000 8 38 0 0 0.003080 0 0 AC015849.16 0 broad.mit.edu 37 17 34233423 34233423 + RNA SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr17:34233423G>A ENST00000587132.1 - 0 4604 ATGGTGAAATGTTGGAGGCTG 0.468000 10 9 0 0 0.006214 0 0 VARS 7407 broad.mit.edu 37 6 31752254 31752254 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr6:31752254C>T ENST00000375663.3 - 12 1933 c.1493G>A c.(1492-1494)cGc>cAc p.R498H VARS_ENST00000444930.2_Missense_Mutation_p.R203H NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 498 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.R498H(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GAGCAGGGTGCGACCTGTCAG 0.597000 25 56 0 0 0.006320 0 0 CDH5 1003 broad.mit.edu 37 16 66436911 66436911 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr16:66436911G>A ENST00000341529.3 + 12 2342 c.2194G>A c.(2194-2196)Ggc>Agc p.G732S CDH5_ENST00000539168.1_Missense_Mutation_p.G171S NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 732 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding p.G732S(1) central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GCACATCTACGGCTACGAGGG 0.642000 11 19 0 0 0.010729 0 0 ADRBK1 156 broad.mit.edu 37 11 67052768 67052768 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:67052768G>A ENST00000308595.5 + 21 2207 c.1917G>A c.(1915-1917)gaG>gaA p.E639E ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 639 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity p.E639E(2) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCGACCCTGAGCTGGTGCAGT 0.697000 21 31 0 0 0.010504 0 0 RASAL1 8437 broad.mit.edu 37 12 113544983 113544983 + Missense_Mutation SNP G G T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr12:113544983G>T ENST00000546530.1 - 16 1864 c.1579C>A c.(1579-1581)Ccc>Acc p.P527T RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000261729.5_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 526 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity p.P526T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GGGTGCAGGGGGGCCATCCAC 0.622000 18 30 2.48551e-13 3.17299e-13 0.004990 1 0 PIPSL 0 broad.mit.edu 37 10 95718641 95718641 + RNA SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr10:95718641C>T ENST00000480546.1 - 0 2656 NR_002319.2 CACAGCATTTCGAATGGCTTC 0.542000 10 62 0 0 0.006214 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 7 156 0 0 0.001984 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 46 0 0 0.009096 0 0 RRP7B 0 broad.mit.edu 37 22 42971987 42971987 + RNA SNP T T C rs137064 by1000genomes TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr22:42971987T>C ENST00000357802.2 - 0 733 p.Q59R(1) CAGCTCTTTTTGGCTGCGCTT 0.672000 3 23 0 0 0.009096 0 0 RIPK1 8737 broad.mit.edu 37 6 3077128 3077128 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr6:3077128A>G ENST00000259808.4 + 2 369 c.71A>G c.(70-72)gAc>gGc p.D24G RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 24 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity p.D24G(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCAGAACTGGACAGCGGAGGC 0.478000 8 49 0 0 0.003080 0 0 PRKCSH 5589 broad.mit.edu 37 19 11552168 11552168 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr19:11552168A>G ENST00000252455.2 + 6 800 c.464A>G c.(463-465)aAg>aGg p.K155R PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 155 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding p.K155R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CGGGAGGAGAAGCAGGTAAGG 0.612000 52 113 0 0 0.014410 0 0 FAT1 2195 broad.mit.edu 37 4 187540359 187540359 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr4:187540359A>G ENST00000441802.2 - 10 7590 c.7381T>C c.(7381-7383)Tac>Cac p.Y2461H NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2461 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.Y2461H(2)|p.Y2464H(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTAAGACTGTAAAATGGCTTC 0.443000 HNSCC(5;0.00058) 6 234 0 0 0.001168 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 55 0 0 0.009096 0 0 CSMD3 114788 broad.mit.edu 37 8 113529332 113529332 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr8:113529332C>T ENST00000297405.5 - 28 4931 c.4687G>A c.(4687-4689)Gag>Aag p.E1563K CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1563 Sushi 8. integral to membrane|plasma membrane p.E1563K(1) 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 ATTCTTTCCTCTCCTTGAAGT 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 66 0 0 0.009535 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28315754 28315754 + Missense_Mutation SNP C C A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr21:28315754C>A ENST00000284987.5 - 3 1471 c.1350G>T c.(1348-1350)aaG>aaT p.K450N NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 450 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.K450N(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGGACCAGGGCTTAGATGCAT 0.448000 4 34 0.00024832 0.000292141 0.009096 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8221715 8221715 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr17:8221715G>A ENST00000361926.3 + 10 1825 c.1715G>A c.(1714-1716)cGc>cAc p.R572H ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H|AC135178.7_ENST00000458568.1_RNA NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 572 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.R572H(1) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AATATCCTGCGCCAGACAGAA 0.627000 47 84 0 0 0.014410 0 0 SEPHS1 22929 broad.mit.edu 37 10 13375855 13375855 + Silent SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr10:13375855T>C ENST00000327347.5 - 5 897 c.522A>G c.(520-522)ggA>ggG p.G174G SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 174 protein modification process ATP binding|GTP binding|selenide, water dikinase activity p.G174G(2) cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 TGGTAGCCACTCCTCCCAGGA 0.438000 16 28 0 0 0.004990 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 46 0 0 0.009096 0 0 OR4C3 256144 broad.mit.edu 37 11 48347071 48347071 + Missense_Mutation SNP C C A rs138317832 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:48347071C>A ENST00000319856.4 + 1 600 c.579C>A c.(577-579)ttC>ttA p.F193L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F193L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GGTTGCCCTTCTGTGGGCCCA 0.532000 23 63 1.96895e-08 2.46118e-08 0.002780 1 0 OR4D9 390199 broad.mit.edu 37 11 59282589 59282589 + Missense_Mutation SNP T T G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:59282589T>G ENST00000329328.3 + 1 204 c.204T>G c.(202-204)atT>atG p.I68M NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I68M(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 ACCTGTCTATTCTTGACATCT 0.443000 79 123 0 0 0.014410 0 0 SNAP25 6616 broad.mit.edu 37 20 10273562 10273562 + Missense_Mutation SNP C C G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr20:10273562C>G ENST00000304886.2 + 5 404 c.196C>G c.(196-198)Cat>Gat p.H66D SNAP25_ENST00000254976.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA NM_003081.3 NP_003072.2 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 66 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome p.H66D(1) endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AGGCATGAACCATATCAACCA 0.413000 12 84 0 0 0.013537 0 0 STARD3 0 broad.mit.edu 37 17 37814071 37814071 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr17:37814071C>T ENST00000336308.5 + 4 559 c.341C>T c.(340-342)gCc>gTc p.A114V STARD3_ENST00000580611.1_Missense_Mutation_p.A88V|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.A114V|STARD3_ENST00000394250.4_Missense_Mutation_p.A114V NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 114 MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity p.A114V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTAGGCTATGCCGTGCTGCGG 0.647000 4 90 0 0 0.009096 0 0 AGBL1 123624 broad.mit.edu 37 15 86838596 86838596 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr15:86838596G>A ENST00000441037.2 + 16 2288 c.2193G>A c.(2191-2193)acG>acA p.T731T AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 731 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.T731T(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGACCATCACGGCCATGCCTG 0.498000 37 68 0 0 0.007835 0 0 HCN4 10021 broad.mit.edu 37 15 73615456 73615456 + Missense_Mutation SNP G G T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr15:73615456G>T ENST00000261917.3 - 8 3971 c.2978C>A c.(2977-2979)aCg>aAg p.T993K NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 993 Pro-rich. blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity p.T993K(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGTCTCTGGCGTGCTCAGTGG 0.697000 7 13 0.000157383 0.000192714 0.003080 1 0 DPT 1805 broad.mit.edu 37 1 168698284 168698284 + Silent SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr1:168698284C>T ENST00000367817.3 - 1 218 c.129G>A c.(127-129)cgG>cgA p.R43R NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 43 2 X 53-55 AA tandem repeats. cell adhesion extracellular space|proteinaceous extracellular matrix p.R43R(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) TGAAGCCTTGCCGGTTCAAAT 0.542000 4 64 0 0 0.009096 0 0 HPS1 3257 broad.mit.edu 37 10 100177455 100177455 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr10:100177455G>A ENST00000325103.6 - 20 2202 c.1969C>T c.(1969-1971)Cgc>Tgc p.R657C HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 657 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity p.R657C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) TCGGTTGGGCGGTTCTTGCTG 0.662000 Hermansky-Pudlak syndrome 21 31 0 0 0.003330 0 0 LIMK1 3984 broad.mit.edu 37 7 73498339 73498339 + Missense_Mutation SNP T T G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr7:73498339T>G ENST00000336180.2 + 1 70 c.19T>G c.(19-21)Tgt>Ggt p.C7G LIMK1_ENST00000418310.1_Intron NM_002314.3 NP_002305.1 P53667 LIMK1_HUMAN LIM domain kinase 1 7 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GACGCTACTTTGTTGCACCTG 0.776000 4 5 0 0 0.009096 0 0 MALAT1 0 broad.mit.edu 37 11 65269936 65269936 + RNA SNP A A T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr11:65269936A>T ENST00000534336.1 + 0 4704 NR_002819.2 TCCATTGTTTAACTGCAAAAC 0.264000 10 23 0 0 0.006214 0 0 TBX19 9095 broad.mit.edu 37 1 168278015 168278015 + Missense_Mutation SNP G G C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr1:168278015G>C ENST00000367821.3 + 7 1003 c.952G>C c.(952-954)Gtt>Ctt p.V318L TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 318 anatomical structure morphogenesis nucleus DNA binding p.V318L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TAATCTGCAAGTTTTCTCGGG 0.463000 3 92 0 0 0.004672 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 3 47 0 0 0.009096 0 0 S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Missense_Mutation SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr1:153362715T>C ENST00000368733.3 - 3 315 c.146A>G c.(145-147)aAg>aGg p.K49R S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507000 3 149 0 0 0.004672 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457286 66457286 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:66457286G>A ENST00000533211.1 - 29 6270 c.5939C>T c.(5938-5940)gCg>gTg p.A1980V SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1980 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTCCTCGGCCGCATAGTGGCT 0.602000 4 141 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179412752 179412752 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr2:179412752A>G ENST00000589042.1 - 339 93825 c.93601T>C c.(93601-93603)Ttc>Ctc p.F31201L TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29560L|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 29560 Fibronectin type-III 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1) 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) ACAGAAGAGAAGGCTTCTCTG 0.443000 33 52 0 0 0.012213 0 0 CABP5 56344 broad.mit.edu 37 19 48533840 48533840 + Splice_Site SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr19:48533840C>T ENST00000293255.2 - 6 627 c.e6-1 NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 signal transduction cytoplasm calcium ion binding p.?(1) endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TTCACAAACTCTGCAAAGAAA 0.493000 31 62 0 0 0.003755 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409276 17409276 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:17409276G>A ENST00000339994.4 - 1 930 c.363C>T c.(361-363)ttC>ttT p.F121F KCNJ11_ENST00000528731.1_Silent_p.F34F NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 34 integral to membrane ATP-activated inward rectifier potassium channel activity p.F121F(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) TGGAGAAAAGGAAGGCAGACG 0.607000 8 41 0 0 0.006214 0 0 STARD3 0 broad.mit.edu 37 17 37814071 37814071 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr17:37814071C>T ENST00000336308.5 + 4 559 c.341C>T c.(340-342)gCc>gTc p.A114V STARD3_ENST00000580611.1_Missense_Mutation_p.A88V|STARD3_ENST00000544210.2_Missense_Mutation_p.A114V|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.A114V NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 114 MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity p.A114V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTAGGCTATGCCGTGCTGCGG 0.647000 4 90 0 0 0.009096 0 0 CCDC34 91057 broad.mit.edu 37 11 27379087 27379087 + Splice_Site SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:27379087T>C ENST00000317945.6 - 2 400 c.359_splice c.e2-1 p.T121_splice CCDC34_ENST00000328697.6_Splice_Site_p.T121_splice NM_080654.2 NP_542385.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 121 p.T121A(2) endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 TCAACCTGAGTGCTACAAAAG 0.398000 17 75 0 0 0.004990 0 0 DENND2D 79961 broad.mit.edu 37 1 111737241 111737241 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr1:111737241G>A ENST00000357640.4 - 7 982 c.753C>T c.(751-753)gcC>gcT p.A251A DENND2D_ENST00000369752.5_Silent_p.A248A NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 251 DENN. p.A251A(1) breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TCTCCAGCACGGCAGAGGCAA 0.537000 13 55 0 0 0.001855 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409274 17409274 + Missense_Mutation SNP A A C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:17409274A>C ENST00000339994.4 - 1 932 c.365T>G c.(364-366)cTt>cGt p.L122R KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 35 integral to membrane ATP-activated inward rectifier potassium channel activity p.L122R(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) AATGGAGAAAAGGAAGGCAGA 0.607000 8 41 0 0 0.004482 0 0 KRT222 125113 broad.mit.edu 37 17 38821349 38821349 + Translation_Start_Site SNP C C A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr17:38821349C>A ENST00000476049.1 - 1 44 c.3G>T c.(1-3)atG>atT p.M1I KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I Q8N1A0 KT222_HUMAN keratin 222 1 intermediate filament structural molecule activity p.M1I(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 GGGACAGTTCCATTCTTTTCC 0.512000 4 125 0.00024832 0.000301154 0.009096 1 0 OR10G8 219869 broad.mit.edu 37 11 123900753 123900753 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:123900753C>T ENST00000431524.1 + 1 457 c.424C>T c.(424-426)Ctt>Ttt p.L142F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L142F(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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;0.0521) CTCGTGTACTCTTCTGGCCAC 0.557000 6 152 0 0 0.001168 0 0 MPEG1 219972 broad.mit.edu 37 11 58978336 58978336 + Missense_Mutation SNP A A C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:58978336A>C ENST00000361050.3 - 1 2088 c.2003T>G c.(2002-2004)cTg>cGg p.L668R NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 668 integral to membrane p.L668R(1) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) AACAACAGCCAGAATGGTGGT 0.557000 32 79 0 0 0.013726 0 0 ATF6B 1388 broad.mit.edu 37 6 32093899 32093899 + Missense_Mutation SNP G G T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr6:32093899G>T ENST00000375201.4 - 5 509 c.464C>A c.(463-465)tCc>tAc p.S155Y ATF6B_ENST00000375203.3_Missense_Mutation_p.S158Y|ATF6B_ENST00000468502.1_5'UTR Q99941 ATF6B_HUMAN activating transcription factor 6 beta 158 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S158Y(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 ATTACCTGAGGAATCATCAGA 0.507000 42 81 5.7616e-29 7.81932e-29 0.014410 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128983512 128983512 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr5:128983512G>A ENST00000274487.4 + 12 2054 c.1909G>A c.(1909-1911)Gga>Aga p.G637R CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 637 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G637R(2) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACATCTGGCCGGAGAGTGGAG 0.522000 55 27 0 0 0.014410 0 0 FOXC1 2296 broad.mit.edu 37 6 1611154 1611154 + Silent SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr6:1611154C>T ENST00000380874.2 + 1 474 c.474C>T c.(472-474)tcC>tcT p.S158S NM_001453.2 NP_001444.2 Q12948 FOXC1_HUMAN forkhead box C1 158 anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|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|transcription regulatory region DNA binding p.S158S(2) large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) ACCCGGACTCCTACAACATGT 0.627000 8 38 0 0 0.003080 0 0 AC015849.16 0 broad.mit.edu 37 17 34233423 34233423 + RNA SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr17:34233423G>A ENST00000587132.1 - 0 4604 ATGGTGAAATGTTGGAGGCTG 0.468000 10 9 0 0 0.006214 0 0 VARS 7407 broad.mit.edu 37 6 31752254 31752254 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr6:31752254C>T ENST00000375663.3 - 12 1933 c.1493G>A c.(1492-1494)cGc>cAc p.R498H VARS_ENST00000444930.2_Missense_Mutation_p.R203H NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 498 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.R498H(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GAGCAGGGTGCGACCTGTCAG 0.597000 25 56 0 0 0.006320 0 0 CDH5 1003 broad.mit.edu 37 16 66436911 66436911 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr16:66436911G>A ENST00000341529.3 + 12 2342 c.2194G>A c.(2194-2196)Ggc>Agc p.G732S CDH5_ENST00000539168.1_Missense_Mutation_p.G171S NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 732 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding p.G732S(1) central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GCACATCTACGGCTACGAGGG 0.642000 11 19 0 0 0.010729 0 0 ADRBK1 156 broad.mit.edu 37 11 67052768 67052768 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:67052768G>A ENST00000308595.5 + 21 2207 c.1917G>A c.(1915-1917)gaG>gaA p.E639E ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 639 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity p.E639E(2) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) GCGACCCTGAGCTGGTGCAGT 0.697000 21 31 0 0 0.010504 0 0 RASAL1 8437 broad.mit.edu 37 12 113544983 113544983 + Missense_Mutation SNP G G T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr12:113544983G>T ENST00000546530.1 - 16 1864 c.1579C>A c.(1579-1581)Ccc>Acc p.P527T RASAL1_ENST00000261729.5_Missense_Mutation_p.P526T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 526 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity p.P526T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GGGTGCAGGGGGGCCATCCAC 0.622000 18 30 2.48551e-13 3.29474e-13 0.004990 1 0 PIPSL 0 broad.mit.edu 37 10 95718641 95718641 + RNA SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr10:95718641C>T ENST00000480546.1 - 0 2656 NR_002319.2 CACAGCATTTCGAATGGCTTC 0.542000 10 62 0 0 0.006214 0 0 RIPK1 8737 broad.mit.edu 37 6 3077128 3077128 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr6:3077128A>G ENST00000259808.4 + 2 369 c.71A>G c.(70-72)gAc>gGc p.D24G RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 24 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity p.D24G(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCAGAACTGGACAGCGGAGGC 0.478000 8 49 0 0 0.003080 0 0 PRKCSH 5589 broad.mit.edu 37 19 11552168 11552168 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr19:11552168A>G ENST00000252455.2 + 6 800 c.464A>G c.(463-465)aAg>aGg p.K155R PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 155 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding p.K155R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CGGGAGGAGAAGCAGGTAAGG 0.612000 52 113 0 0 0.014410 0 0 FAT1 2195 broad.mit.edu 37 4 187540359 187540359 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr4:187540359A>G ENST00000441802.2 - 10 7590 c.7381T>C c.(7381-7383)Tac>Cac p.Y2461H NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2461 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.Y2461H(2)|p.Y2464H(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTAAGACTGTAAAATGGCTTC 0.443000 HNSCC(5;0.00058) 6 234 0 0 0.001168 0 0 CSMD3 114788 broad.mit.edu 37 8 113529332 113529332 + Missense_Mutation SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr8:113529332C>T ENST00000297405.5 - 28 4931 c.4687G>A c.(4687-4689)Gag>Aag p.E1563K CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1563 Sushi 8. integral to membrane|plasma membrane p.E1563K(1) 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 ATTCTTTCCTCTCCTTGAAGT 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 66 0 0 0.009535 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28315754 28315754 + Missense_Mutation SNP C C A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr21:28315754C>A ENST00000284987.5 - 3 1471 c.1350G>T c.(1348-1350)aaG>aaT p.K450N NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 450 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.K450N(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGGACCAGGGCTTAGATGCAT 0.448000 4 34 0.00024832 0.000301154 0.009096 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8221715 8221715 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr17:8221715G>A ENST00000361926.3 + 10 1825 c.1715G>A c.(1714-1716)cGc>cAc p.R572H AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 572 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.R572H(1) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AATATCCTGCGCCAGACAGAA 0.627000 47 84 0 0 0.014410 0 0 SEPHS1 22929 broad.mit.edu 37 10 13375855 13375855 + Silent SNP T T C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr10:13375855T>C ENST00000327347.5 - 5 897 c.522A>G c.(520-522)ggA>ggG p.G174G SEPHS1_ENST00000537130.1_Silent_p.G107G|SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000545675.1_Silent_p.G174G NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 174 protein modification process ATP binding|GTP binding|selenide, water dikinase activity p.G174G(2) cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 TGGTAGCCACTCCTCCCAGGA 0.438000 16 28 0 0 0.004990 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 84 0 0 0.009096 0 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 5 77 0 0 0.001168 0 0 OR4C3 256144 broad.mit.edu 37 11 48347071 48347071 + Missense_Mutation SNP C C A rs138317832 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:48347071C>A ENST00000319856.4 + 1 600 c.579C>A c.(577-579)ttC>ttA p.F193L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F193L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GGTTGCCCTTCTGTGGGCCCA 0.532000 23 63 1.96895e-08 2.55068e-08 0.002780 1 0 OR4D9 390199 broad.mit.edu 37 11 59282589 59282589 + Missense_Mutation SNP T T G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:59282589T>G ENST00000329328.3 + 1 204 c.204T>G c.(202-204)atT>atG p.I68M NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I68M(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 ACCTGTCTATTCTTGACATCT 0.443000 79 123 0 0 0.014410 0 0 SNAP25 6616 broad.mit.edu 37 20 10273562 10273562 + Missense_Mutation SNP C C G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr20:10273562C>G ENST00000304886.2 + 5 404 c.196C>G c.(196-198)Cat>Gat p.H66D SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron NM_003081.3 NP_003072.2 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 66 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome p.H66D(1) endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) AGGCATGAACCATATCAACCA 0.413000 12 84 0 0 0.013537 0 0 AGBL1 123624 broad.mit.edu 37 15 86838596 86838596 + Silent SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr15:86838596G>A ENST00000441037.2 + 16 2288 c.2193G>A c.(2191-2193)acG>acA p.T731T AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1_ENST00000421325.2_Silent_p.T731T NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 731 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.T731T(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGACCATCACGGCCATGCCTG 0.498000 37 68 0 0 0.007835 0 0 HCN4 10021 broad.mit.edu 37 15 73615456 73615456 + Missense_Mutation SNP G G T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr15:73615456G>T ENST00000261917.3 - 8 3971 c.2978C>A c.(2977-2979)aCg>aAg p.T993K NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 993 Pro-rich. blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity p.T993K(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGTCTCTGGCGTGCTCAGTGG 0.697000 7 13 0.000157383 0.000199352 0.003080 1 0 DPT 1805 broad.mit.edu 37 1 168698284 168698284 + Silent SNP C C T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr1:168698284C>T ENST00000367817.3 - 1 218 c.129G>A c.(127-129)cgG>cgA p.R43R NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 43 2 X 53-55 AA tandem repeats. cell adhesion extracellular space|proteinaceous extracellular matrix p.R43R(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) TGAAGCCTTGCCGGTTCAAAT 0.542000 4 64 0 0 0.009096 0 0 HPS1 3257 broad.mit.edu 37 10 100177455 100177455 + Missense_Mutation SNP G G A TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr10:100177455G>A ENST00000325103.6 - 20 2202 c.1969C>T c.(1969-1971)Cgc>Tgc p.R657C HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R657C NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 657 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity p.R657C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) TCGGTTGGGCGGTTCTTGCTG 0.662000 Hermansky-Pudlak syndrome 21 31 0 0 0.003330 0 0 LIMK1 3984 broad.mit.edu 37 7 73498339 73498339 + Missense_Mutation SNP T T G TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr7:73498339T>G ENST00000336180.2 + 1 70 c.19T>G c.(19-21)Tgt>Ggt p.C7G LIMK1_ENST00000418310.1_Intron NM_002314.3 NP_002305.1 P53667 LIMK1_HUMAN LIM domain kinase 1 7 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GACGCTACTTTGTTGCACCTG 0.776000 4 5 0 0 0.009096 0 0 MALAT1 0 broad.mit.edu 37 11 65269936 65269936 + RNA SNP A A T TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr11:65269936A>T ENST00000534336.1 + 0 4704 NR_002819.2 TCCATTGTTTAACTGCAAAAC 0.264000 10 23 0 0 0.006214 0 0 TBX19 9095 broad.mit.edu 37 1 168278015 168278015 + Missense_Mutation SNP G G C TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr1:168278015G>C ENST00000367821.3 + 7 1003 c.952G>C c.(952-954)Gtt>Ctt p.V318L TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 318 anatomical structure morphogenesis nucleus DNA binding p.V318L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TAATCTGCAAGTTTTCTCGGG 0.463000 3 92 0 0 0.004672 0 0 RP11-33N16.3 0 broad.mit.edu 37 14 90203668 90203668 + RNA DEL C C - rs67505159 TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr14:90203668delC ENST00000555070.1 - 0 170 CTCTTTCTTTCtttttttttt 0.368 3 6 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd 23c4ade3-dc70-4bd0-95f0-c7be9eec4d99 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 2 4 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 4 5 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-G9-6332-01A-11D-1786-08 TCGA-G9-6332-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50f0a6a4-1453-4dc2-b963-53a6075ce4cd c92e4a08-8313-44d3-98b2-07d089ae97ff g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 7 80 --- --- --- ---