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 ENAM 10117 broad.mit.edu 37 4 71500038 71500038 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:71500038G>A ENST00000396073.3 + 6 505 c.224G>A c.(223-225)gGg>gAg p.G75E NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 75 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) GCACACCTGGGGCCCTTCTTT 0.493000 26 190 0 0 0.001512 0 0 OR10H2 26538 broad.mit.edu 37 19 15839066 15839066 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:15839066C>T ENST00000305899.3 + 1 233 c.213C>T c.(211-213)atC>atT p.I71I NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCTCCGAGATCCTCTACACCG 0.632000 6 52 0 0 0.00116845 0 0 KDM4B 23030 broad.mit.edu 37 19 5133943 5133943 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:5133943G>A ENST00000159111.4 + 14 2174 c.1956G>A c.(1954-1956)ttG>ttA p.L652L KDM4B_ENST00000536461.1_Silent_p.L686L NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 652 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CGGACGCCTTGAGGCCGCTGC 0.617000 6 48 0 0 0.00116845 0 0 KRT34 3885 broad.mit.edu 37 17 39538268 39538268 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:39538268C>T ENST00000394001.1 - 1 387 c.357G>A c.(355-357)ctG>ctA p.L119L NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 119 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TGTCCCGCTCCAGCTGACGCA 0.597000 12 80 0 0 0.000978159 0 0 CHERP 10523 broad.mit.edu 37 19 16638916 16638916 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:16638916G>A ENST00000546361.2 - 9 1431 c.1280C>T c.(1279-1281)cCc>cTc p.P427L CHERP_ENST00000198939.6_Missense_Mutation_p.P438L|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 427 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 AGGAGCCACGGGGTGAGGCTG 0.662000 10 40 0 0 0.000978159 0 0 CSMD2 114784 broad.mit.edu 37 1 34158608 34158608 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:34158608G>A ENST00000373381.4 - 25 4150 c.3974C>T c.(3973-3975)tCa>tTa p.S1325L CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S198L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1285 CUB 8. 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) ATACCCGGGTGACAGCACCTG 0.572000 23 117 0 0 0.000295444 0 0 CNNM4 26504 broad.mit.edu 37 2 97464925 97464925 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:97464925C>T ENST00000377075.2 + 4 1911 c.1813C>T c.(1813-1815)Cga>Tga p.R605* CNNM4_ENST00000540067.1_Nonsense_Mutation_p.R92*|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 605 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CCTGTACACCCGAAATAAGCC 0.577000 6 63 0 0 0.000673444 0 0 KRT6C 286887 broad.mit.edu 37 12 52863467 52863467 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:52863467C>T ENST00000252250.6 - 7 1458 c.1411G>A c.(1411-1413)Ggc>Agc p.G471S NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 471 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CACTCCTCGCCCTCCAGCAGC 0.577000 7 54 0 0 0.000274275 0 0 SLC51A 200931 broad.mit.edu 37 3 195955680 195955680 + Splice_Site SNP G G A rs146316634 byFrequency TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:195955680G>A ENST00000296327.5 + 6 731 c.521_splice c.e6-1 p.R174_splice NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit CCCCACTCAGGAAGAAGCTTC 0.607000 6 80 0 0 8.12818e-05 0 0 ST5 6764 broad.mit.edu 37 11 8747751 8747751 + Missense_Mutation SNP G G A rs141549433 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:8747751G>A ENST00000534127.1 - 7 1731 c.1346C>T c.(1345-1347)tCc>tTc p.S449F ST5_ENST00000530438.1_Missense_Mutation_p.S29F|ST5_ENST00000357665.1_Missense_Mutation_p.S449F|ST5_ENST00000313726.6_Missense_Mutation_p.S449F|ST5_ENST00000526757.1_Missense_Mutation_p.S29F NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 449 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) AAACTCAAAGGATTTTCTGTG 0.488000 17 52 0 0 0.000958276 0 0 ZNF226 7769 broad.mit.edu 37 19 44680983 44680983 + Missense_Mutation SNP T T G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:44680983T>G ENST00000590089.1 + 7 1935 c.1568T>G c.(1567-1569)gTg>gGg p.V523G ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.V523G|ZNF226_ENST00000454662.2_Missense_Mutation_p.V523G Q9NYT6 ZN226_HUMAN zinc finger protein 226 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GTTCATCTAGTGGTCCACACA 0.453000 10 36 0 0 0.000442599 0 0 FLRT3 23767 broad.mit.edu 37 20 14306599 14306599 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:14306599C>T ENST00000378053.3 - 2 1810 c.1554G>A c.(1552-1554)gaG>gaA p.E518E MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.E518E|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 518 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AAGGTTCTTTCTCTTGCTCTC 0.463000 20 52 0 0 0.00152264 0 0 SYT14 255928 broad.mit.edu 37 1 210273574 210273574 + Missense_Mutation SNP G G A rs140554266 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:210273574G>A ENST00000537238.1 + 7 1209 c.818G>A c.(817-819)aGa>aAa p.R273K SYT14_ENST00000472886.1_Missense_Mutation_p.R311K|SYT14_ENST00000534859.1_Missense_Mutation_p.R311K|SYT14_ENST00000367019.1_Missense_Mutation_p.R311K|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367015.1_Missense_Mutation_p.R273K|SYT14_ENST00000399639.2_Missense_Mutation_p.R311K|SYT14_ENST00000422431.1_Missense_Mutation_p.R356K NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 311 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) AAGAAACAGAGAGCAAAAACC 0.418000 6 21 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179449972 179449972 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:179449972C>T ENST00000589042.1 - 309 64723 c.64499G>A c.(64498-64500)tGg>tAg p.W21500* TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W12560*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W18932*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W12435*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W12627*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W19859*|TTN-AS1_ENST00000590743.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19859 Fibronectin type-III 56. 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) TCCTTTTTTCCATTTACAGGT 0.428000 19 133 0 0 0.00074312 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375794 93375794 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:93375794C>T ENST00000375765.3 - 2 704 c.316G>A c.(316-318)Gag>Aag p.E106K NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 106 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 CCTTTGATCTCGCAGATTTGT 0.592000 8 84 0 0 0.000274275 0 0 SEC16A 9919 broad.mit.edu 37 9 139357390 139357390 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:139357390G>A ENST00000313050.7 - 10 4915 c.4842C>T c.(4840-4842)ctC>ctT p.L1614L SEC16A_ENST00000371706.3_Silent_p.L1436L|SEC16A_ENST00000290037.6_Silent_p.L1436L|SEC16A_ENST00000431893.2_Silent_p.L1436L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1436 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TCTCTCTCTCGAGCGAGCTGG 0.612000 5 48 0 0 8.12818e-05 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981800 61981800 + Silent SNP G G A rs121912261 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:61981800G>A ENST00000370263.4 - 5 1184 c.963C>T c.(961-963)atC>atT p.I321I CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 321 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.I321I(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CCGTGATGACGATGGACAGGG 0.607000 18 44 0 0 0.000566183 0 0 FUT8 2530 broad.mit.edu 37 14 66208871 66208871 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:66208871C>T ENST00000360689.5 + 11 3198 c.1471C>T c.(1471-1473)Cat>Tat p.H491Y FUT8_ENST00000394586.2_Missense_Mutation_p.H491Y|FUT8_ENST00000394585.1_Missense_Mutation_p.H491Y|FUT8_ENST00000417683.1_Missense_Mutation_p.H85Y|FUT8_ENST00000358307.2_Missense_Mutation_p.H362Y|FUT8_ENST00000557164.1_Missense_Mutation_p.H328Y NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 491 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TGCAAACTTCCATTCTTTAGA 0.388000 13 49 0 0 0.000219431 0 0 ZNF534 147658 broad.mit.edu 37 19 52941472 52941472 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:52941472G>A ENST00000332323.6 + 4 859 c.798G>A c.(796-798)caG>caA p.Q266Q ZNF534_ENST00000433050.1_Silent_p.Q253Q|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 TCTTCAATCAGAATTCACACC 0.383000 5 39 0 0 0.000602214 0 0 NWD1 284434 broad.mit.edu 37 19 16910778 16910778 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:16910778G>A ENST00000524140.2 + 17 3959 c.3541G>A c.(3541-3543)Ggg>Agg p.G1181R NWD1_ENST00000523826.1_Missense_Mutation_p.G975R|NWD1_ENST00000379808.3_Missense_Mutation_p.G1181R|NWD1_ENST00000339803.6_Missense_Mutation_p.G1046R|NWD1_ENST00000552788.1_Missense_Mutation_p.G1181R|NWD1_ENST00000549814.1_Intron NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1181 ATP binding p.G1046R(1) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGCCCGCGGCGGGGCTTTGGT 0.622000 4 45 0 0 0.00116845 0 0 KIAA0195 9772 broad.mit.edu 37 17 73488710 73488710 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:73488710C>T ENST00000314256.7 + 15 2146 c.1752C>T c.(1750-1752)ccC>ccT p.P584P KIAA0195_ENST00000375248.5_Silent_p.P594P|KIAA0195_ENST00000579208.1_Silent_p.P235P NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 584 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCTCAAACCCCTGGGCCTCA 0.607000 5 48 0 0 0.000602214 0 0 HESX1 8820 broad.mit.edu 37 3 57233911 57233911 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:57233911C>T ENST00000295934.3 - 1 72 c.36G>A c.(34-36)ggG>ggA p.G12G HESX1_ENST00000473921.1_Silent_p.G12G NM_003865.2 NP_003856.1 Q9UBX0 HESX1_HUMAN HESX homeobox 1 12 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) GTTTGTTTTCCCCGAGCTGAG 0.542000 6 105 0 0 0.00116845 0 0 RYR1 6261 broad.mit.edu 37 19 38951099 38951099 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:38951099C>T ENST00000355481.4 + 20 2576 c.2445C>T c.(2443-2445)ctC>ctT p.L815L RYR1_ENST00000360985.3_Silent_p.L815L|RYR1_ENST00000359596.3_Silent_p.L815L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 815 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) AGGCTGTGCTCCCTCGAGAGC 0.637000 14 77 0 0 0.000219431 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481679 27481679 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:27481679C>T ENST00000233535.4 - 2 571 c.219G>A c.(217-219)cgG>cgA p.R73R SLC30A3_ENST00000447008.2_Silent_p.R68R NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 73 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAGCTGCCTCCGTGCATGCA 0.607000 11 50 0 0 0.000978159 0 0 KRT16 3868 broad.mit.edu 37 17 39768659 39768659 + Silent SNP G G A rs150457351 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:39768659G>A ENST00000301653.4 - 1 346 c.282C>T c.(280-282)ttC>ttT p.F94F NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 94 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) agccaccaccgaagccagcac 0.627000 7 21 0 0 0.000157383 0 0 MUC17 140453 broad.mit.edu 37 7 100681536 100681536 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:100681536C>T ENST00000306151.4 + 3 6903 c.6839C>T c.(6838-6840)cCa>cTa p.P2280L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2280 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) GGAACGACTCCATTAACAAGT 0.473000 72 154 0 0 0.000781405 0 0 TRANK1 9881 broad.mit.edu 37 3 36872539 36872539 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:36872539C>T ENST00000301807.6 - 21 8650 c.6753G>A c.(6751-6753)gtG>gtA p.V2251V TRANK1_ENST00000428977.2_Silent_p.V2251V|TRANK1_ENST00000429976.2_Silent_p.V2801V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2801 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TGGCCGGGTCCACCTTCTCGT 0.532000 8 150 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13841135 13841135 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:13841135G>A ENST00000265104.4 - 34 5693 c.5589C>T c.(5587-5589)ttC>ttT p.F1863F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1863 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTAGCTCCAGGAAAGCCTGAT 0.403000 Kartagener syndrome 9 44 0 0 0.000274275 0 0 BNC1 646 broad.mit.edu 37 15 83932596 83932596 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:83932596G>A ENST00000345382.2 - 4 1492 c.1407C>T c.(1405-1407)ttC>ttT p.F469F RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.F462F NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 469 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CAATGTTTGGGAAGGCTGGTT 0.547000 15 43 0 0 0.000219431 0 0 MGST2 4258 broad.mit.edu 37 4 140625252 140625252 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:140625252G>A ENST00000265498.1 + 5 646 c.394G>A c.(394-396)Gat>Aat p.D132N MGST2_ENST00000506797.1_3'UTR|MGST2_ENST00000515137.1_3'UTR NM_001204366.1|NM_002413.4 NP_001191295.1|NP_002404.1 Q99735 MGST2_HUMAN microsomal glutathione S-transferase 2 132 glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity lung(1)|ovary(1) 2 all_hematologic(180;0.162) Glutathione(DB00143) CAGCTTTCTGGATGAATATCT 0.478000 6 82 0 0 8.12818e-05 0 0 BMP1 649 broad.mit.edu 37 8 22066984 22066984 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:22066984G>A ENST00000306385.5 + 19 3272 c.2602G>A c.(2602-2604)Gtg>Atg p.V868M BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 868 CUB 5. 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) ACGGGCAGACGTGAAGACCAA 0.632000 10 62 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9072414 9072414 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:9072414G>A ENST00000397910.4 - 3 15235 c.15032C>T c.(15031-15033)tCa>tTa p.S5011L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5013 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 ATCCAATTGTGAAAATCCATG 0.483000 5 38 0 0 0.000602214 0 0 FARP1 10160 broad.mit.edu 37 13 99042345 99042345 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr13:99042345C>T ENST00000376586.2 + 10 1326 c.990C>T c.(988-990)ctC>ctT p.L330L FARP1_ENST00000319562.6_Silent_p.L330L|FARP1_ENST00000595437.1_Silent_p.L330L Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 330 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGCCCGTCCTCTTTAGCCGGG 0.522000 13 115 0 0 0.000566183 0 0 CYLC2 1539 broad.mit.edu 37 9 105767288 105767288 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:105767288G>A ENST00000374798.3 + 5 445 c.375G>A c.(373-375)aaG>aaA p.K125K CYLC2_ENST00000487798.1_Silent_p.K125K NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 125 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CAACACAGAAGGACACAACAG 0.308000 11 48 0 0 0.00136819 0 0 SLC26A5 375611 broad.mit.edu 37 7 103053510 103053510 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:103053510G>A ENST00000306312.3 - 5 603 c.342C>T c.(340-342)taC>taT p.Y114Y SLC26A5_ENST00000393727.1_Silent_p.Y114Y|SLC26A5_ENST00000393723.1_Silent_p.Y114Y|SLC26A5_ENST00000356767.4_Silent_p.Y114Y|SLC26A5_ENST00000393729.1_Intron|SLC26A5_ENST00000393735.2_Silent_p.Y114Y|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Silent_p.Y114Y|SLC26A5_ENST00000432958.2_Silent_p.Y114Y|SLC26A5_ENST00000339444.6_Silent_p.Y114Y NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 114 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AAAATGAAGAGTACAGGCCAA 0.398000 6 45 0 0 8.12818e-05 0 0 CERS3 204219 broad.mit.edu 37 15 101009590 101009590 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:101009590G>A ENST00000284382.4 - 11 1261 c.838C>T c.(838-840)Cct>Tct p.P280S CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.P280S|CERS3_ENST00000394113.1_Missense_Mutation_p.P280S NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 280 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity p.P280S(2) CACCAGAAAGGAAAAACAATG 0.493000 9 61 0 0 0.000673444 0 0 UNC79 57578 broad.mit.edu 37 14 94160732 94160732 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:94160732G>A ENST00000553484.1 + 49 7859 c.7705G>A c.(7705-7707)Gaa>Aaa p.E2569K UNC79_ENST00000555664.1_Missense_Mutation_p.E2508K|UNC79_ENST00000393151.2_Missense_Mutation_p.E2547K|UNC79_ENST00000256339.4_Missense_Mutation_p.E2370K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2547 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGCATTGCAGGAATGCAATTC 0.338000 5 47 0 0 8.12818e-05 0 0 TRIM55 84675 broad.mit.edu 37 8 67062108 67062108 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:67062108C>T ENST00000315962.4 + 5 1205 c.832C>T c.(832-834)Ctg>Ttg p.L278L TRIM55_ENST00000276573.7_Silent_p.L278L|TRIM55_ENST00000353317.5_Silent_p.L278L|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 278 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) GGCAGTGTTTCTGCAGGTAAG 0.368000 12 46 0 0 0.000978159 0 0 GZMA 3001 broad.mit.edu 37 5 54404140 54404140 + Missense_Mutation SNP G G A rs142064253 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:54404140G>A ENST00000274306.6 + 4 580 c.545G>A c.(544-546)cGa>cAa p.R182Q NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 182 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TGCAATGATCGAAATCACTAT 0.428000 15 40 0 0 0.000308642 0 0 OR51T1 401665 broad.mit.edu 37 11 4903473 4903473 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:4903473C>T ENST00000380378.1 + 1 425 c.425C>T c.(424-426)tCg>tTg p.S142L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S115L NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGGAGTCCTCGGTGCTGGTA 0.502000 16 63 0 0 0.00074312 0 0 AZI2 64343 broad.mit.edu 37 3 28382035 28382035 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:28382035G>A ENST00000479665.1 - 2 605 c.74C>T c.(73-75)cCa>cTa p.P25L AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Missense_Mutation_p.P25L|AZI2_ENST00000457172.1_Missense_Mutation_p.P25L|AZI2_ENST00000334100.6_Missense_Mutation_p.P25L NM_022461.3 NP_071906.1 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 25 mitochondrion|plasma membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 TATTGAAACTGGAGTCACTGT 0.348000 21 51 0 0 0.00188189 0 0 CELSR3 1951 broad.mit.edu 37 3 48691120 48691120 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:48691120G>A ENST00000544264.1 - 9 5660 c.5380C>T c.(5380-5382)Cgg>Tgg p.R1794W CELSR3_ENST00000164024.4_Missense_Mutation_p.R1794W Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1794 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCCGTGTCCGAAATGCCAGC 0.602000 13 41 0 0 0.00136819 0 0 SMARCD1 6602 broad.mit.edu 37 12 50492783 50492783 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:50492783G>A ENST00000394963.4 + 13 1946 c.1548G>A c.(1546-1548)taG>taA p.*516* SMARCD1_ENST00000381513.4_Silent_p.*475*|SMARCD1_ENST00000548573.1_Silent_p.*314* NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 0 chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 GGAATACATAGGGCCTCTCCC 0.517000 6 44 0 0 0.00116845 0 0 TRAK1 22906 broad.mit.edu 37 3 42264731 42264731 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:42264731G>A ENST00000327628.5 + 16 2764 c.2364G>A c.(2362-2364)caG>caA p.Q788Q TRAK1_ENST00000396175.1_Silent_p.Q730Q|TRAK1_ENST00000487159.1_3'UTR NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 788 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CGCCTATGCAGACACCCACAT 0.627000 4 25 0 0 0.000602214 0 0 PSG7 5676 broad.mit.edu 37 19 43430058 43430058 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:43430058C>T ENST00000406070.2 - 0 1206 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GCTGAAACTTCCCATTAATTG 0.458000 20 148 0 0 0.00188189 0 0 OR13C3 138803 broad.mit.edu 37 9 107298289 107298289 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:107298289G>A ENST00000374781.2 - 1 848 c.806C>T c.(805-807)tCc>tTc p.S269F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TGAGCACGTGGAAAATGCCTT 0.428000 10 64 0 0 0.00136819 0 0 GALNT13 114805 broad.mit.edu 37 2 155295135 155295135 + Missense_Mutation SNP G G A rs148805770 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:155295135G>A ENST00000392825.3 + 12 1994 c.1427G>A c.(1426-1428)cGa>cAa p.R476Q AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.R476Q|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 476 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R476Q(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AAAGAAATCCGAACCGATGAC 0.338000 12 63 0 0 0.00136819 0 0 XIRP2 129446 broad.mit.edu 37 2 168105894 168105894 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:168105894G>A ENST00000409195.1 + 9 8081 c.7992G>A c.(7990-7992)agG>agA p.R2664R XIRP2_ENST00000409273.1_Silent_p.R2442R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R2664R|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2489 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAGCTCAAGGGACATTATGC 0.408000 6 32 0 0 0.00116845 0 0 FSIP2 401024 broad.mit.edu 37 2 186670793 186670793 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:186670793C>T ENST00000343098.5 + 17 17027 c.17027C>T c.(17026-17028)tCa>tTa p.S5676L FSIP2_ENST00000424728.1_Missense_Mutation_p.S5587L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ACACATTTTTCATTAATAATT 0.274000 9 68 0 0 0.000442599 0 0 CES3 23491 broad.mit.edu 37 16 67000146 67000146 + Splice_Site SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:67000146G>A ENST00000303334.4 + 7 890 c.e7-1 CES3_ENST00000394037.1_Splice_Site NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 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) TTTGTCCCCAGAAAATCGCAA 0.567000 5 35 0 0 0.000602214 0 0 FLNC 2318 broad.mit.edu 37 7 128494537 128494537 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:128494537C>T ENST00000325888.8 + 41 7059 c.6798C>T c.(6796-6798)atC>atT p.I2266I FLNC_ENST00000346177.6_Silent_p.I2233I|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2266 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 CCGCAGAGATCGTCGAGGGCG 0.642000 4 10 0 0 0.000602214 0 0 PCDH18 54510 broad.mit.edu 37 4 138452734 138452734 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:138452734G>A ENST00000344876.4 - 1 895 c.509C>T c.(508-510)tCc>tTc p.S170F PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_5'UTR NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 170 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTGTGGAGGGAATTTTCCCC 0.458000 5 33 0 0 0.000602214 0 0 ZNF106 64397 broad.mit.edu 37 15 42743200 42743200 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:42743200G>A ENST00000263805.4 - 2 1527 c.1201C>T c.(1201-1203)Cca>Tca p.P401S ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TTCTGTGTTGGGGAATTACGT 0.428000 21 163 0 0 0.000375601 0 0 CYP4X1 260293 broad.mit.edu 37 1 47505115 47505115 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:47505115C>T ENST00000371901.3 + 8 1234 c.984C>T c.(982-984)atC>atT p.I328I CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Silent_p.I327I NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 328 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TCTCCTGGATCCTTTACTGCC 0.517000 16 34 0 0 0.000958276 0 0 MOGAT2 80168 broad.mit.edu 37 11 75442221 75442221 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:75442221G>A ENST00000526712.1 + 5 1422 c.649G>A c.(649-651)Gag>Aag p.E217K MOGAT2_ENST00000198801.5_Missense_Mutation_p.E299K Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 299 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) TCCCTCGGAGGAGGAGGTGAA 0.567000 10 48 0 0 0.00185496 0 0 CCDC129 223075 broad.mit.edu 37 7 31617900 31617900 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:31617900C>T ENST00000409210.1 + 6 930 c.746C>T c.(745-747)tCt>tTt p.S249F CCDC129_ENST00000451887.2_Missense_Mutation_p.S367F|CCDC129_ENST00000407970.3_Missense_Mutation_p.S341F|CCDC129_ENST00000319386.3_Intron Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 341 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCTTGCTCATCTATGCCGGCC 0.498000 6 48 0 0 0.00116845 0 0 PDCD2L 84306 broad.mit.edu 37 19 34900267 34900267 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:34900267C>T ENST00000246535.3 + 4 585 c.538C>T c.(538-540)Cct>Tct p.P180S PDCD2L_ENST00000587065.2_Intron NM_032346.1 NP_115722.1 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 180 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TCCTGTGCCTCCTGGGCTGCC 0.577000 9 71 0 0 0.000442599 0 0 FBXO43 286151 broad.mit.edu 37 8 101153270 101153270 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:101153270G>A ENST00000428847.2 - 2 1528 c.1212C>T c.(1210-1212)caC>caT p.H404H NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 404 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CAGAGTCAGGGTGGACAATCT 0.468000 20 134 0 0 0.000295444 0 0 MUC16 94025 broad.mit.edu 37 19 9068151 9068151 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:9068151G>A ENST00000397910.4 - 3 19498 c.19295C>T c.(19294-19296)tCt>tTt p.S6432F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6434 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 AGCAAAAGTAGAAAGCATGGT 0.507000 13 93 0 0 0.00136819 0 0 KRT76 51350 broad.mit.edu 37 12 53165685 53165685 + Silent SNP T T A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:53165685T>A ENST00000332411.2 - 6 1286 c.1233A>T c.(1231-1233)ctA>ctT p.L411L NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 411 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCTCAGCCCGTAGCCTCTGGA 0.562000 8 87 0 0 0.000157383 0 0 TRPC4 7223 broad.mit.edu 37 13 38248490 38248490 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr13:38248490C>T ENST00000379705.3 - 5 2106 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K TRPC4_ENST00000379673.2_Missense_Mutation_p.E417K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E417K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E417K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E417K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E417K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E244K|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E244K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E417K Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 417 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGTTTAATTTCTCCCCATATG 0.333000 4 41 0 0 0.00024832 0 0 GRM8 2918 broad.mit.edu 37 7 126086222 126086222 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:126086222C>T ENST00000339582.2 - 10 3443 c.2635G>A c.(2635-2637)Ggc>Agc p.G879S GRM8_ENST00000444921.2_Missense_Mutation_p.G879S|GRM8_ENST00000358373.3_Missense_Mutation_p.G879S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 879 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTCACCTCGCCATTTGGTCTG 0.448000 HNSCC(24;0.065) 22 70 0 0 0.00188189 0 0 MFSD1 64747 broad.mit.edu 37 3 158523191 158523191 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:158523191C>T ENST00000415822.2 + 3 545 c.404C>T c.(403-405)gCc>gTc p.A135V MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Missense_Mutation_p.A86V NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 86 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTGCTGTATGCCTGGTATTCT 0.338000 35 143 0 0 0.00128727 0 0 INHBB 3625 broad.mit.edu 37 2 121107048 121107048 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:121107048C>T ENST00000295228.3 + 2 868 c.822C>T c.(820-822)ccC>ccT p.P274P NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 274 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) CGCACCGGCCCTTTGTGGTGG 0.667000 13 75 0 0 0.00136819 0 0 MYH4 4622 broad.mit.edu 37 17 10364237 10364237 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:10364237C>T ENST00000255381.2 - 12 1253 c.1143G>A c.(1141-1143)acG>acA p.T381T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 381 Myosin head-like. 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 TGGTACCTTCCGTGCCATCTG 0.483000 9 51 0 0 0.000978159 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916194 9916194 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:9916194G>A ENST00000396573.2 - 11 2404 c.2095C>T c.(2095-2097)Ccc>Tcc p.P699S GRIN2A_ENST00000404927.2_Missense_Mutation_p.P699S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P699S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P542S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P699S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P699S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 699 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGCATGTAGGGATAGTTATTC 0.458000 6 46 0 0 0.00116845 0 0 LRTM2 654429 broad.mit.edu 37 12 1943855 1943855 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:1943855G>A ENST00000543818.1 + 5 1923 c.1081G>A c.(1081-1083)Gag>Aag p.E361K CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.E361K|LRTM2_ENST00000535041.1_Missense_Mutation_p.E361K NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 361 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GGGCGAGCACGAGGACCAGAA 0.662000 5 33 0 0 8.12818e-05 0 0 DLGAP2 9228 broad.mit.edu 37 8 1639759 1639759 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:1639759C>T ENST00000421627.2 + 10 2657 c.2523C>T c.(2521-2523)ttC>ttT p.F841F NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 920 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCAGAAATTCCAGCAGTTTT 0.408000 7 26 0 0 0.000274275 0 0 FLG2 388698 broad.mit.edu 37 1 152323959 152323959 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:152323959C>T ENST00000388718.5 - 3 6375 c.6303G>A c.(6301-6303)agG>agA p.R2101R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2101 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) GGCCAGATCCCCTTCTTCCAG 0.527000 85 223 0 0 0.000781405 0 0 OR52B4 143496 broad.mit.edu 37 11 4388619 4388619 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:4388619C>T ENST00000408920.2 - 1 997 c.907G>A c.(907-909)Gaa>Aaa p.E303K NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCACCTGTTCCTGGATTTGC 0.398000 5 24 0 0 0.000602214 0 0 FAT4 79633 broad.mit.edu 37 4 126370478 126370478 + Missense_Mutation SNP T T G rs148344513 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:126370478T>G ENST00000394329.3 + 9 8320 c.8307T>G c.(8305-8307)aaT>aaG p.N2769K FAT4_ENST00000335110.5_Missense_Mutation_p.N1067K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2769 Cadherin 26. 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 AAAATGATAATGCCCCTAGGT 0.388000 9 75 0 0 0.00136819 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971096 21971096 + Missense_Mutation SNP C C T rs121913384 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:21971096C>T ENST00000579755.1 - 2 597 c.305G>A c.(304-306)gGa>gAa p.G102E CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010). 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.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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) AGGAAGCCCTCCCGGGCAGCG 0.756000 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 94 0 0 0.000422831 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29883575 29883575 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:29883575G>A ENST00000308713.5 - 16 3163 c.2636C>T c.(2635-2637)tCg>tTg p.S879L SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S778L|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S822L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S848L NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 879 endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGGGAGCCCGAGAAGCCGAA 0.597000 5 28 0 0 0.000602214 0 0 CCDC62 84660 broad.mit.edu 37 12 123297851 123297851 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:123297851C>T ENST00000253079.6 + 11 2230 c.1886C>T c.(1885-1887)tCg>tTg p.S629L CCDC62_ENST00000392441.4_Missense_Mutation_p.S629L|CCDC62_ENST00000537566.1_Missense_Mutation_p.S390L|CCDC62_ENST00000392440.2_Missense_Mutation_p.S390L NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 629 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) GATGATTTCTCGCCCACGAGC 0.493000 14 69 0 0 0.000219431 0 0 ART3 419 broad.mit.edu 37 4 77003022 77003022 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:77003022G>A ENST00000355810.4 + 3 234 c.115G>A c.(115-117)Gaa>Aaa p.E39K ART3_ENST00000349321.3_Missense_Mutation_p.E39K|ART3_ENST00000341029.5_Missense_Mutation_p.E39K|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 39 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATTTGATGATGAATACCTGAA 0.363000 16 123 0 0 0.000566183 0 0 LARP4 113251 broad.mit.edu 37 12 50860811 50860811 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:50860811C>T ENST00000398473.2 + 13 1565 c.1453C>T c.(1453-1455)Cca>Tca p.P485S LARP4_ENST00000518444.1_Missense_Mutation_p.P484S|LARP4_ENST00000429001.3_Missense_Mutation_p.P491S|LARP4_ENST00000293618.8_Missense_Mutation_p.P414S|LARP4_ENST00000347328.5_Missense_Mutation_p.P414S NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 485 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 CTCAAATTTTCCACCTTTACC 0.378000 9 75 0 0 0.000274275 0 0 OR1L8 138881 broad.mit.edu 37 9 125330591 125330591 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:125330591G>A ENST00000304865.2 - 1 247 c.166C>T c.(166-168)Ctt>Ttt p.L56F NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L56V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGGGTCTGAAGATGGGGGTTG 0.458000 7 83 0 0 0.000157383 0 0 TENM3 55714 broad.mit.edu 37 4 183601489 183601489 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:183601489G>A ENST00000511685.1 + 9 1749 c.1626G>A c.(1624-1626)ccG>ccA p.P542P TENM3_ENST00000406950.2_Silent_p.P542P|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 TTCTGGGTCCGGATTGTTCAA 0.413000 4 21 0 0 0.00024832 0 0 C14orf159 80017 broad.mit.edu 37 14 91639672 91639672 + Missense_Mutation SNP C C T rs148167595 byFrequency TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:91639672C>T ENST00000518868.1 + 9 1186 c.496C>T c.(496-498)Cct>Tct p.P166S C14orf159_ENST00000523816.1_Missense_Mutation_p.P161S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P37S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P166S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P161S|C14orf159_ENST00000428926.2_Missense_Mutation_p.P161S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P166S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P161S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P166S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P161S Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 161 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) CTTCTGCTGCCCTCTGGTGGT 0.502000 OREG0022869 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 66 0 0 0.000442599 0 0 LIMCH1 22998 broad.mit.edu 37 4 41664900 41664900 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:41664900C>T ENST00000313860.7 + 15 2089 c.2035C>T c.(2035-2037)Ccc>Tcc p.P679S LIMCH1_ENST00000512820.1_Missense_Mutation_p.P667S|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P679S|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P679S|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P513S|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P520S|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1064S|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P513S|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P508S|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P525S|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P520S|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P679S NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 679 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TGTGGAATTTCCCTCCAGCCC 0.463000 7 42 0 0 8.12818e-05 0 0 NPAP1 23742 broad.mit.edu 37 15 24921998 24921998 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:24921998G>A ENST00000329468.2 + 1 1458 c.984G>A c.(982-984)agG>agA p.R328R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCAAAAGGAAAATGTCGA 0.587000 9 48 0 0 0.000274275 0 0 FSHR 2492 broad.mit.edu 37 2 49381435 49381435 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:49381435G>A ENST00000406846.2 - 1 241 c.122C>T c.(121-123)cCt>cTt p.P41L FSHR_ENST00000304421.4_Missense_Mutation_p.P41L|FSHR_ENST00000346173.3_Missense_Mutation_p.P41L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 41 LRRNT. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GAGGTCAGAAGGAATCTCTGT 0.478000 Gonadal Dysgenesis, 46 XX 5 17 0 0 8.12818e-05 0 0 SLC25A19 60386 broad.mit.edu 37 17 73282437 73282437 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:73282437C>T ENST00000402418.3 - 2 1145 c.236G>A c.(235-237)tGg>tAg p.W79* SLC25A19_ENST00000416858.2_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000580994.1_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000320362.3_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000375261.4_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000442286.2_Nonsense_Mutation_p.W79* Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 79 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) GTGTCCTTTCCAGAAAGCTGT 0.587000 11 72 0 0 0.000673444 0 0 OASL 8638 broad.mit.edu 37 12 121458456 121458456 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:121458456C>T ENST00000257570.5 - 6 1723 c.1453G>A c.(1453-1455)Gac>Aac p.D485N OASL_ENST00000339275.5_3'UTR NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 485 Ubiquitin-like 2. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCAACCAGTCCTGCAGGACT 0.522000 37 271 0 0 0.00128727 0 0 CLUL1 27098 broad.mit.edu 37 18 627154 627154 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr18:627154G>A ENST00000581619.1 + 5 1403 c.556G>A c.(556-558)Gaa>Aaa p.E186K CLUL1_ENST00000400606.2_Missense_Mutation_p.E161K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E161K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E161K|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Missense_Mutation_p.E213K Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 161 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 TGAAGATAATGAAAAAGATCT 0.373000 9 63 0 0 0.000442599 0 0 MYH1 4619 broad.mit.edu 37 17 10397900 10397900 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:10397900C>T ENST00000226207.5 - 38 5651 c.5557G>A c.(5557-5559)Gaa>Aaa p.E1853K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1853 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 TAAGTGAGTTCCTTCACTTTT 0.383000 10 94 0 0 0.000978159 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417024 89417024 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:89417024C>T ENST00000490686.1 - 0 186 CAGCCTAAATCATTTCTAATG 0.532000 18 99 0 0 0.000958276 0 0 OR4K5 79317 broad.mit.edu 37 14 20389351 20389351 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:20389351G>A ENST00000315915.4 + 1 611 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTACATCATTGAAATACTAAT 0.408000 17 125 0 0 0.00074312 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585448 70585448 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:70585448G>A ENST00000260126.3 - 10 2909 c.2203C>T c.(2203-2205)Cgt>Tgt p.R735C SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R680C NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 735 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TACACAAAACGAAACGACGTC 0.463000 71 136 0 0 0.000781405 0 0 NLRP4 147945 broad.mit.edu 37 19 56382302 56382302 + Missense_Mutation SNP G G A rs140263319 by1000genomes TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:56382302G>A ENST00000301295.6 + 7 2886 c.2464G>A c.(2464-2466)Gaa>Aaa p.E822K NLRP4_ENST00000587891.1_Missense_Mutation_p.E747K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E766K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 822 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCTGAAGGACGAAGGACTGAA 0.512000 7 70 0 0 0.000442599 0 0 SCN9A 6335 broad.mit.edu 37 2 167133823 167133823 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:167133823G>A ENST00000303354.6 - 16 2887 c.2547C>T c.(2545-2547)tcC>tcT p.S849S AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S837S|SCN9A_ENST00000409435.1_Silent_p.S848S|SCN9A_ENST00000375387.4_Silent_p.S849S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 848 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATGTTGGCCAGGATTTTGCCA 0.368000 7 38 0 0 0.000157383 0 0 CNGA4 1262 broad.mit.edu 37 11 6260614 6260614 + Splice_Site SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:6260614G>A ENST00000379936.2 + 2 178 c.62_splice c.e2-1 p.R21_splice CNGA4_ENST00000533426.1_5'UTR NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 21 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTCTTACAGGAAGTTGCTGC 0.483000 41 153 0 0 0.00170553 0 0 KCNH5 27133 broad.mit.edu 37 14 63174645 63174645 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:63174645C>T ENST00000322893.7 - 11 2816 c.2548G>A c.(2548-2550)Gag>Aag p.E850K KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 850 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACACTGTTCTCTGAATCACTG 0.448000 16 87 0 0 0.00074312 0 0 KCTD7 154881 broad.mit.edu 37 7 66264330 66264330 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:66264330C>T ENST00000380828.2 + 9 1023 c.869C>T c.(868-870)cCt>cTt p.P290L RABGEF1_ENST00000284957.5_Missense_Mutation_p.P250L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P250L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P264L|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.P250L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P263L|KCTD7_ENST00000510829.2_Missense_Mutation_p.P250L Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 0 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 TGGGTTACGCCTCAGATGCTG 0.478000 7 72 0 0 0.000157383 0 0 MYH13 8735 broad.mit.edu 37 17 10247202 10247202 + Silent SNP C C A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:10247202C>A ENST00000418404.3 - 15 1972 c.1809G>T c.(1807-1809)ctG>ctT p.L603L MYH13_ENST00000570743.1_Silent_p.L603L|MYH13_ENST00000252172.4_Silent_p.L603L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 603 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CAGTCTCGTTCAGGGGGTCCT 0.532000 10 45 9.70103e-10 6.27931e-09 0.000673444 1 0 KRT28 162605 broad.mit.edu 37 17 38955977 38955977 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:38955977G>A ENST00000306658.7 - 1 234 c.169C>T c.(169-171)Cct>Tct p.P57S NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 57 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CTCCCACCAGGAACACTGCCC 0.562000 9 55 0 0 0.000442599 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493169 101493169 + RNA SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:101493169G>A ENST00000385028.1 + 0 48 NR_029967.1 TAATGAGGACGAAACACACCT 0.468000 12 78 0 0 0.000308642 0 0 CWC22 57703 broad.mit.edu 37 2 180810261 180810261 + Silent SNP A A G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:180810261A>G ENST00000410053.3 - 20 2621 c.2322T>C c.(2320-2322)ggT>ggC p.G774G CWC22_ENST00000295749.6_Silent_p.G774G NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 774 catalytic step 2 spliceosome protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 TCCAATTTGAACCACTTGAAT 0.383000 26 132 0 0 0.00106085 0 0 PTPRN 5798 broad.mit.edu 37 2 220167204 220167204 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:220167204G>A ENST00000295718.2 - 6 889 c.649C>T c.(649-651)Cgt>Tgt p.R217C AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.R127C|PTPRN_ENST00000409251.3_Missense_Mutation_p.R217C NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 217 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GAGCCATCACGGGAGCCAAAC 0.617000 9 46 0 0 0.000442599 0 0 KIAA1257 57501 broad.mit.edu 37 3 128697005 128697005 + Nonsense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:128697005G>A ENST00000265068.5 - 5 858 c.691C>T c.(691-693)Cag>Tag p.Q231* KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.Q119*|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.Q231* NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 231 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AATTTTCTCTGATTTAAAACC 0.353000 20 80 0 0 0.00188189 0 0 SLC6A12 6539 broad.mit.edu 37 12 307164 307164 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:307164C>T ENST00000428720.1 - 9 1595 c.852G>A c.(850-852)tgG>tgA p.W284* SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.W284*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.W284*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.W284*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.W284* NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 284 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CCGCATCCATCCACACCTACA 0.592000 5 40 0 0 0.000602214 0 0 CLCN7 1186 broad.mit.edu 37 16 1498384 1498384 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:1498384G>A ENST00000382745.4 - 21 2590 c.1985C>T c.(1984-1986)cCc>cTc p.P662L CLCN7_ENST00000262318.8_Missense_Mutation_p.P638L|CLCN7_ENST00000448525.1_Missense_Mutation_p.P638L NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 662 CBS 1. integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) CTCCACCACGGGGAAGCCGTT 0.622000 5 24 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179613945 179613945 + Missense_Mutation SNP T T G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:179613945T>G ENST00000360870.5 - 46 13404 c.13182A>C c.(13180-13182)gaA>gaC p.E4394D TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 524 Ig-like 24. 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) TATTTCTTATTTCTTTCTTAA 0.333000 4 21 0 0 0.00024832 0 0 NDC80 10403 broad.mit.edu 37 18 2610828 2610828 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr18:2610828G>A ENST00000261597.4 + 16 1941 c.1759G>A c.(1759-1761)Gag>Aag p.E587K NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 587 Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding p.E587K(1) NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ACGTCTGTTAGAGATGGTTGC 0.373000 15 80 0 0 0.000219431 0 0 PDZD2 23037 broad.mit.edu 37 5 32053902 32053902 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:32053902C>T ENST00000438447.1 + 10 2201 c.1813C>T c.(1813-1815)Cga>Tga p.R605* PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R605* O15018 PDZD2_HUMAN PDZ domain containing 2 605 PDZ 3. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TGCTGGAGGTCGAGACTGCAT 0.483000 7 107 0 0 0.000157383 0 0 ZNF354B 117608 broad.mit.edu 37 5 178309887 178309887 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:178309887C>T ENST00000322434.3 + 5 660 c.434C>T c.(433-435)tCa>tTa p.S145L NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAAATAATTTCAGTTGCCCAT 0.328000 7 31 0 0 8.12818e-05 0 0 C1orf173 127254 broad.mit.edu 37 1 75072544 75072544 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:75072544C>T ENST00000326665.5 - 10 1448 c.1230G>A c.(1228-1230)ccG>ccA p.P410P RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.P213P NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 410 p.P410P(1) 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 TCCTAGATTTCGGCAAAGACG 0.413000 6 34 0 0 8.12818e-05 0 0 LRRC15 131578 broad.mit.edu 37 3 194081662 194081662 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:194081662C>T ENST00000347624.3 - 2 196 c.111G>A c.(109-111)gtG>gtA p.V37V LRRC15_ENST00000428839.1_Silent_p.V43V|LRRC15_ENST00000439944.2_Silent_p.V43V NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 37 LRRNT. integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CGGTGCACTCCACCTGGGAGG 0.612000 5 15 0 0 0.000602214 0 0 ADAD2 161931 broad.mit.edu 37 16 84230329 84230329 + Missense_Mutation SNP G G C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:84230329G>C ENST00000268624.3 + 10 1942 c.1849G>C c.(1849-1851)Ggg>Cgg p.G617R RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G535R NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 535 RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CAGGGCTGTGGGGAAGCCCTA 0.672000 4 62 0 0 0.00024832 0 0 OR2M3 127062 broad.mit.edu 37 1 248367019 248367019 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:248367019C>T ENST00000456743.1 + 1 688 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) ATCATTGCTTCCTATGCTCGA 0.423000 34 137 0 0 0.00148497 0 0 SLC8A1 6546 broad.mit.edu 37 2 40397470 40397470 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:40397470C>T ENST00000542756.1 - 6 1997 c.1974G>A c.(1972-1974)aaG>aaA p.K658K SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.K655K|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000405901.3_Silent_p.K658K|SLC8A1_ENST00000403092.1_Silent_p.K663K|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Silent_p.K663K P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 663 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TAGCATGAACCTTCCTGAAGA 0.418000 4 30 0 0 0.000602214 0 0 POLE 5426 broad.mit.edu 37 12 133245029 133245029 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:133245029G>A ENST00000320574.5 - 19 2129 c.2086C>T c.(2086-2088)Ccc>Tcc p.P696S POLE_ENST00000535270.1_Missense_Mutation_p.P669S NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 696 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AACAAGGGGGGGAACTTCTCT 0.602000 DNA polymerases (catalytic subunits) 6 78 0 0 8.12818e-05 0 0 VPREB1 7441 broad.mit.edu 37 22 22599668 22599668 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr22:22599668C>T ENST00000403807.3 + 2 496 c.357C>T c.(355-357)gcC>gcT p.A119A VPREB1_ENST00000302273.2_Silent_p.A118A P12018 VPREB_HUMAN pre-B lymphocyte 1 119 Ig-like V-type. immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CTATGGGGGCCCGCAGCTCgg 0.567000 4 6 0 0 0.00024832 0 0 KCNMA1 3778 broad.mit.edu 37 10 78709064 78709064 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:78709064C>T ENST00000286627.5 - 21 3323 c.2371G>A c.(2371-2373)Gac>Aac p.D791N KCNMA1_ENST00000286628.8_Missense_Mutation_p.D849N|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D832N|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D791N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D852N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D791N|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D853N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D849N NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 849 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GAGCTGACGTCGCCAAAGATG 0.552000 4 23 0 0 0.00024832 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38621238 38621238 + Missense_Mutation SNP T T C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:38621238T>C ENST00000222345.6 + 10 3478 c.2969T>C c.(2968-2970)gTt>gCt p.V990A NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 990 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTGGCCGAGGTTGAGGACTAT 0.657000 6 64 0 0 0.00116845 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504946 151504946 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:151504946G>A ENST00000317605.4 + 1 1870 c.765G>A c.(763-765)aaG>aaA p.K255K LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 255 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CAGTGCTGAAGACTCTGCGGG 0.622000 11 27 0 0 0.000978159 0 0 TRDV1 28518 broad.mit.edu 37 14 22564744 22564744 + RNA SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:22564744G>A ENST00000390452.2 + 0 213 GCAAAGAGATGATTTTCCTTA 0.428000 9 59 0 0 0.000442599 0 0 ALDH1B1 219 broad.mit.edu 37 9 38395820 38395820 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:38395820C>T ENST00000377698.3 + 2 228 c.75C>T c.(73-75)ctC>ctT p.L25L NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 25 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CAGCAGCCCTCCCAAGCCCCA 0.592000 9 39 0 0 0.000442599 0 0 ASTN1 460 broad.mit.edu 37 1 176857294 176857294 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:176857294C>T ENST00000367654.2 - 18 3024 c.3011G>A c.(3010-3012)gGa>gAa p.G1004E ASTN1_ENST00000367657.3_Missense_Mutation_p.G996E|ASTN1_ENST00000361833.2_Missense_Mutation_p.G996E|ASTN1_ENST00000424564.2_Missense_Mutation_p.G996E O14525 ASTN1_HUMAN astrotactin 1 1004 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 GATGACATCTCCAGTCCCTGA 0.542000 10 40 0 0 0.000442599 0 0 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A A G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:8307709A>G ENST00000307358.2 + 9 1412 c.1208A>G c.(1207-1209)cAa>cGa p.Q403R NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GGCGGCATCCAAGATGGTGAC 0.647000 4 66 0 0 0.00024832 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214183 140214183 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:140214183G>A ENST00000525929.1 + 1 215 c.215G>A c.(214-216)gGg>gAg p.G72E PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATTCCGTGGGGATCTTCTG 0.617000 45 108 0 0 0.000680045 0 0 RTL1 388015 broad.mit.edu 37 14 101348154 101348154 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:101348154C>T ENST00000534062.1 - 1 3030 c.2972G>A c.(2971-2973)cGa>cAa p.R991Q NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 991 p.R991Q(1) breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TGGCAGAGCTCGGCCGCCGTC 0.587000 5 41 0 0 0.000602214 0 0 EIF3F 8665 broad.mit.edu 37 11 8014441 8014441 + Missense_Mutation SNP A A C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:8014441A>C ENST00000533626.1 + 6 1149 c.523A>C c.(523-525)Acg>Ccg p.T175P EIF3F_ENST00000309828.4_Missense_Mutation_p.T175P|EIF3F_ENST00000537635.1_Missense_Mutation_p.T190P|EIF3F_ENST00000449102.2_Missense_Mutation_p.T26P O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 175 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CAGGTACGCTACGGGCCATGA 0.537000 6 90 0 0 0.00116845 0 0 NOL8 55035 broad.mit.edu 37 9 95077144 95077144 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:95077144G>A ENST00000545558.1 - 7 2255 c.1763C>T c.(1762-1764)tCc>tTc p.S588F NOL8_ENST00000535387.1_Missense_Mutation_p.S588F|NOL8_ENST00000542053.1_Missense_Mutation_p.S520F|NOL8_ENST00000442668.2_Missense_Mutation_p.S588F|NOL8_ENST00000358855.4_Missense_Mutation_p.S520F Q76FK4 NOL8_HUMAN nucleolar protein 8 588 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 GTCTTTCAAGGATTTTTTCAT 0.378000 4 25 0 0 0.00024832 0 0 MORN1 79906 broad.mit.edu 37 1 2267927 2267927 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:2267927C>T ENST00000378531.3 - 12 1404 c.1231G>A c.(1231-1233)Gag>Aag p.E411K MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 411 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CCAGGAGGCTCCTGTGCCGTG 0.657000 9 20 0 0 0.000673444 0 0 INSL6 11172 broad.mit.edu 37 9 5185451 5185451 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:5185451C>T ENST00000381641.3 - 1 217 c.152G>A c.(151-153)aGc>aAc p.S51N NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 51 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) ACGGAACTGGCTCCAGTTGGC 0.542000 8 78 0 0 0.000274275 0 0 PAK7 57144 broad.mit.edu 37 20 9624791 9624791 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:9624791G>A ENST00000378429.3 - 4 732 c.186C>T c.(184-186)atC>atT p.I62I PAK7_ENST00000378423.1_Silent_p.I62I|PAK7_ENST00000353224.5_Silent_p.I62I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 62 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GAGCCAGCTGGATGGGTGTGA 0.507000 16 49 0 0 0.000422831 0 0 SH3TC1 54436 broad.mit.edu 37 4 8218686 8218686 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:8218686C>T ENST00000539824.1 + 7 777 c.403C>T c.(403-405)Ccc>Tcc p.P135S SH3TC1_ENST00000245105.3_Missense_Mutation_p.P211S Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 211 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TTTTGAAGGGCCCTTCTTTGT 0.652000 7 31 0 0 0.000157383 0 0 OR2T2 401992 broad.mit.edu 37 1 248616137 248616137 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:248616137C>T ENST00000342927.3 + 1 61 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CCACTAACTTCGTCCTCACAG 0.507000 17 94 0 0 0.000375601 0 0 SCN11A 11280 broad.mit.edu 37 3 38938441 38938441 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:38938441G>A ENST00000302328.3 - 14 2496 c.2298C>T c.(2296-2298)tgC>tgT p.C766C SCN11A_ENST00000456224.3_Silent_p.C766C|SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000450244.1_Silent_p.C766C NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 766 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCCATTCCCCGCAGAGGATGC 0.468000 10 36 0 0 0.000978159 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672553 44672553 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:44672553G>A ENST00000454036.1 + 11 1520 c.1444G>A c.(1444-1446)Ggg>Agg p.G482R SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G459R NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 482 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGCATTGAGGGGGTCGTCCT 0.562000 6 116 0 0 8.12818e-05 0 0 MTTP 4547 broad.mit.edu 37 4 100543903 100543903 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:100543903C>T ENST00000457717.1 + 19 2839 c.2583C>T c.(2581-2583)agC>agT p.S861S MTTP_ENST00000511045.1_Silent_p.S888S|MTTP_ENST00000265517.5_Silent_p.S861S|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 861 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GAAAAGAAAGCGTATTAGCAG 0.438000 9 77 0 0 0.000442599 0 0 KCNQ5 56479 broad.mit.edu 37 6 73879504 73879504 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:73879504G>A ENST00000342056.2 + 12 1959 c.1561G>A c.(1561-1563)Gaa>Aaa p.E521K KCNQ5_ENST00000403813.2_Missense_Mutation_p.E493K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E503K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E502K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.E502K|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E512K NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 502 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGTATATGATGAAAAAGGATG 0.418000 8 49 0 0 0.000673444 0 0 USP17L2 377630 broad.mit.edu 37 8 11995065 11995065 + Missense_Mutation SNP C C G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:11995065C>G ENST00000333796.3 - 1 1521 c.1205G>C c.(1204-1206)cGa>cCa p.R402P FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 402 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TTGCGTTGCTCGCCTGTCTGT 0.562000 6 61 0 0 8.12818e-05 0 0 DNAH7 56171 broad.mit.edu 37 2 196753050 196753050 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:196753050C>T ENST00000312428.6 - 33 5438 c.5338G>A c.(5338-5340)Gaa>Aaa p.E1780K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1780 AAA 2 (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 ATTATGAATTCCTTTTGAATA 0.383000 12 37 0 0 0.000978159 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762115 101762115 + Silent SNP A A T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:101762115A>T ENST00000334289.3 - 9 1657 c.1062T>A c.(1060-1062)ctT>ctA p.L354L NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 354 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TTCCAGTTGCAAGCAATTTTC 0.398000 24 84 0 0 0.000720815 0 0 ARID5B 84159 broad.mit.edu 37 10 63850777 63850777 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:63850777G>A ENST00000279873.7 + 10 1965 c.1555G>A c.(1555-1557)Gaa>Aaa p.E519K ARID5B_ENST00000309334.5_Missense_Mutation_p.E276K NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 519 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GAAGGACAACGAAACAGACCA 0.537000 14 64 0 0 0.000422831 0 0 NEK11 79858 broad.mit.edu 37 3 130889706 130889706 + Missense_Mutation SNP T T G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:130889706T>G ENST00000383366.4 + 14 1667 c.1374T>G c.(1372-1374)gaT>gaG p.D458E NEK11_ENST00000508196.1_Missense_Mutation_p.D458E|NEK11_ENST00000429253.2_Missense_Mutation_p.D458E|NEK11_ENST00000511262.1_Missense_Mutation_p.D458E|NEK11_ENST00000507910.1_Missense_Mutation_p.D458E|NEK11_ENST00000510688.1_Missense_Mutation_p.D458E|NEK11_ENST00000412440.2_Missense_Mutation_p.D274E|NEK11_ENST00000510769.1_Missense_Mutation_p.D353E|NEK11_ENST00000356918.4_Missense_Mutation_p.D458E NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 458 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TTGTAGAGGATGCCACATCTG 0.483000 6 174 0 0 8.12818e-05 0 0 SALL1 6299 broad.mit.edu 37 16 51171260 51171260 + Silent SNP C C T rs145953478 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:51171260C>T ENST00000440970.1 - 3 3878 c.3447G>A c.(3445-3447)gcG>gcA p.A1149A SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.A1246A|SALL1_ENST00000541611.1_Silent_p.A69A NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1246 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCCTTCATCGCCAGCCCGT 0.562000 5 41 0 0 0.000602214 0 0 OR10H5 284433 broad.mit.edu 37 19 15904951 15904951 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:15904951C>T ENST00000308940.8 + 1 191 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCCTGCTGTTCCTGCTGATGT 0.587000 11 120 0 0 0.000978159 0 0 PTPRT 11122 broad.mit.edu 37 20 40727189 40727189 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:40727189G>A ENST00000373198.3 - 28 4019 c.3784C>T c.(3784-3786)Cac>Tac p.H1262Y PTPRT_ENST00000373190.1_Missense_Mutation_p.H1239Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H1230Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1249Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H1240Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H1243Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H1250Y NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1240 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCTGCTTGTGGCTCTGACAA 0.542000 7 46 0 0 0.000442599 0 0 GRIN2D 2906 broad.mit.edu 37 19 48918128 48918128 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:48918128C>T ENST00000263269.3 + 6 1508 c.1420C>T c.(1420-1422)Ccg>Tcg p.P474S NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 474 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CAGCCCTCCACCGGATGCCCC 0.607000 5 55 0 0 8.12818e-05 0 0 MCTP2 55784 broad.mit.edu 37 15 94883438 94883438 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:94883438G>A ENST00000357742.4 + 5 791 c.791G>A c.(790-792)cGa>cAa p.R264Q MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R264Q|MCTP2_ENST00000451018.3_Missense_Mutation_p.R264Q NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 264 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTATATGATCGAGATTTAACC 0.318000 25 109 0 0 0.000586117 0 0 LINC00842 643650 broad.mit.edu 37 10 47133571 47133571 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:47133571C>T ENST00000422732.2 - 0 435 NR_033957.1 ttacagccatccccactgcca 0.453000 9 94 0 0 0.000274275 0 0 PRSS1 5644 broad.mit.edu 37 7 142459860 142459860 + Missense_Mutation SNP A A T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:142459860A>T ENST00000486171.1 + 4 495 c.478A>T c.(478-480)Aac>Tac p.N160Y PRSS1_ENST00000311737.7_Missense_Mutation_p.N146Y P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 146 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TGGCTGGGGCAACACTGCGAG 0.577000 9 65 0 0 0.000442599 0 0 IFNA5 3442 broad.mit.edu 37 9 21305122 21305122 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:21305122C>T ENST00000259555.4 - 1 190 c.134G>A c.(133-135)gGa>gAa p.G45E NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 45 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGAGATTCTTCCCATTTGTGC 0.493000 14 73 0 0 0.00185496 0 0 CHRNB4 1143 broad.mit.edu 37 15 78917350 78917350 + Missense_Mutation SNP T T G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:78917350T>G ENST00000412074.2 - 5 754 c.643A>C c.(643-645)Acc>Ccc p.T215P CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CTGTGGCTGGTTTGATGGGGT 0.572000 5 5 0 0 8.12818e-05 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858085 9858085 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:9858085G>A ENST00000396573.2 - 14 3625 c.3316C>T c.(3316-3318)Ctg>Ttg p.L1106L GRIN2A_ENST00000404927.2_Silent_p.L1106L|GRIN2A_ENST00000562109.1_Silent_p.L1106L|GRIN2A_ENST00000535259.1_Silent_p.L949L|GRIN2A_ENST00000396575.2_Silent_p.L1106L|GRIN2A_ENST00000330684.3_Silent_p.L1106L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1106 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGGTTTTCAGGTAGGTGCGC 0.463000 8 119 0 0 0.000157383 0 0 NBPF20 100288142 broad.mit.edu 37 1 148344705 148344705 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:148344705C>T ENST00000369202.1 - 3 410 c.213G>A c.(211-213)ctG>ctA p.L71L NBPF20_ENST00000414710.2_Silent_p.L71L neuroblastoma breakpoint family, member 20 p.L71L(1) breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 GCTCATTCCTCAGCATAAATT 0.542000 13 257 0 0 0.00121646 0 0 MUC16 94025 broad.mit.edu 37 19 9008345 9008345 + Splice_Site SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:9008345C>T ENST00000397910.4 - 41 39410 c.39206_splice c.e41-1 p.R13069_splice NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13071 SEA 7. 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 CCTTCTCAGACCTGGGGAAGG 0.542000 9 65 0 0 0.000673444 0 0 RAB41 347517 broad.mit.edu 37 X 69502086 69502086 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:69502086G>A ENST00000374473.2 + 1 65 c.19G>A c.(19-21)Gac>Aac p.D7N RAB41_ENST00000276066.4_Missense_Mutation_p.D7N Q5JT25 RAB41_HUMAN RAB41, member RAS oncogene family 7 protein transport|small GTPase mediated signal transduction GTP binding breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 CTTTGGTCACGACGAGGCCTG 0.562000 6 17 0 0 8.12818e-05 0 0 AHNAK 79026 broad.mit.edu 37 11 62292482 62292482 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:62292482G>A ENST00000378024.4 - 5 9681 c.9407C>T c.(9406-9408)gCc>gTc p.A3136V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3136 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) CACATCTGGGGCATTAATATC 0.473000 7 302 0 0 0.000157383 0 0 PLBD1 79887 broad.mit.edu 37 12 14689527 14689527 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:14689527C>T ENST00000240617.5 - 5 1328 c.676G>A c.(676-678)Gga>Aga p.G226R NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 226 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 GAGCAATGTCCCATGTCCCAT 0.428000 8 50 0 0 0.000274275 0 0 ANO1 55107 broad.mit.edu 37 11 70007287 70007287 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:70007287C>T ENST00000355303.5 + 17 1904 c.1599C>T c.(1597-1599)atC>atT p.I533I ANO1_ENST00000538023.1_Silent_p.I533I|ANO1_ENST00000531349.1_Silent_p.I242I|ANO1_ENST00000530676.1_Silent_p.I387I|ANO1_ENST00000398543.2_Silent_p.I387I|ANO1_ENST00000316296.5_Silent_p.I475I NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 533 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CGTTTGCCATCGTCCTCGGCG 0.632000 4 26 0 0 0.00024832 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187773 42187773 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:42187773C>T ENST00000006724.3 - 3 850 c.649G>A c.(649-651)Gaa>Aaa p.E217K CEACAM7_ENST00000401731.1_Missense_Mutation_p.E217K|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 217 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TTCTGTATTTCACATTCATAG 0.557000 14 110 0 0 0.000308642 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971097 21971097 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:21971097C>T ENST00000579755.1 - 2 596 c.304G>A c.(304-306)Gga>Aga p.G102R CDKN2A_ENST00000479692.2_Silent_p.R36R|CDKN2A_ENST00000497750.1_Silent_p.R36R|CDKN2A_ENST00000578845.2_Silent_p.R36R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Silent_p.R87R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143R|CDKN2A_ENST00000494262.1_Silent_p.R36R|CDKN2A_ENST00000446177.1_Silent_p.R87R|CDKN2A_ENST00000304494.5_Silent_p.R87R|CDKN2A_ENST00000579122.1_Silent_p.R87R|CDKN2A_ENST00000498628.2_Silent_p.R36R P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010). 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.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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) GGAAGCCCTCCCGGGCAGCGT 0.756000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 14 94 0 0 0.000422831 0 0 DIP2B 57609 broad.mit.edu 37 12 51069147 51069147 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:51069147C>T ENST00000301180.5 + 7 866 c.832C>T c.(832-834)Cag>Tag p.Q278* NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 278 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TACAAAAATCCAGCAGCTTCT 0.368000 9 60 0 0 0.000274275 0 0 MSTO1 55154 broad.mit.edu 37 1 155582230 155582230 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:155582230C>T ENST00000245564.2 + 9 859 c.835C>T c.(835-837)Cgt>Tgt p.R279C MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.R244C|MSTO1_ENST00000483734.1_3'UTR NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 279 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) AAACATCTATCGTCTATTAAA 0.532000 24 49 0 0 0.00127121 0 0 SSPO 23145 broad.mit.edu 37 7 149530948 149530948 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:149530948C>T ENST00000378016.2 + 0 15477 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCACAGCTGTCCCTCTTGTGA 0.582000 11 22 0 0 0.000308642 0 0 HSF1 3297 broad.mit.edu 37 8 145537689 145537689 + Silent SNP C C A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:145537689C>A ENST00000528838.1 + 12 1516 c.1356C>A c.(1354-1356)ccC>ccA p.P452P HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Silent_p.P393P NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 452 Transactivation domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CCAGGCCTCCCGAGGCAGAGA 0.692000 4 33 0.00116845 0.00740223 0.00116845 1 0 GCK 2645 broad.mit.edu 37 7 44189389 44189389 + Missense_Mutation SNP C C T rs147065275 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:44189389C>T ENST00000403799.3 - 6 1118 c.649G>A c.(649-651)Gac>Aac p.D217N GCK_ENST00000345378.2_Missense_Mutation_p.D218N|GCK_ENST00000395796.3_Missense_Mutation_p.D216N|GCK_ENST00000437084.1_Missense_Mutation_p.D200N NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 217 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CACTGATGGTCTTCGTAGTAG 0.567000 100 271 0 0 0.000781405 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64495289 64495289 + Nonsense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:64495289G>A ENST00000303052.7 - 10 1522 c.1099C>T c.(1099-1101)Cga>Tga p.R367* CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R367*|CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R367*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R349* NM_022048.3 NP_071331.2 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 367 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 ACCTGATTTCGAAGAGGCTGC 0.453000 14 39 0 0 0.00185496 0 0 ALOX12B 242 broad.mit.edu 37 17 7978985 7978985 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:7978985C>T ENST00000319144.4 - 12 1842 c.1582G>A c.(1582-1584)Gag>Aag p.E528K ALOX12B_ENST00000577351.1_Intron NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 528 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGATCACCCTCCACGGCTGCG 0.572000 Multiple Myeloma(8;0.094) 21 145 0 0 0.00047179 0 0 WDR65 149465 broad.mit.edu 37 1 43663253 43663253 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:43663253G>A ENST00000372492.4 + 7 1476 c.1152G>A c.(1150-1152)atG>atA p.M384I WDR65_ENST00000528956.1_Missense_Mutation_p.M384I NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 384 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGTATTTGATGTATCCATTGC 0.488000 24 83 0 0 0.000339439 0 0 CERS2 29956 broad.mit.edu 37 1 150939673 150939673 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:150939673G>A ENST00000271688.6 - 8 1004 c.618C>T c.(616-618)ttC>ttT p.F206F CERS2_ENST00000368954.5_Silent_p.F206F|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.F197F NM_181746.3 NP_859530.1 Q96G23 CERS2_HUMAN ceramide synthase 2 206 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TCTGTTCCTTGAAATCCTGCA 0.493000 21 59 0 0 0.000295444 0 0 AP3S1 1176 broad.mit.edu 37 5 115238627 115238627 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:115238627G>A ENST00000316788.7 + 5 948 c.391G>A c.(391-393)Gag>Aag p.E131K AP3S1_ENST00000505423.1_Intron NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 131 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) AATGGTATTGGAGACAAATAT 0.323000 4 50 0 0 0.000602214 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221176 140221176 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:140221176C>T ENST00000531613.1 + 1 270 c.270C>T c.(268-270)atC>atT p.I90I PCDHA8_ENST00000378123.3_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 p.I90I(2) NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGG 0.612000 33 96 0 0 0.000953801 0 0 ASNSD1 54529 broad.mit.edu 37 2 190532015 190532015 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:190532015C>T ENST00000260952.4 + 4 1570 c.1157C>T c.(1156-1158)tCt>tTt p.S386F ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 386 Asparagine synthetase. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GAAGAATTCTCTAAAGATGTT 0.398000 6 25 0 0 8.12818e-05 0 0 WDR65 149465 broad.mit.edu 37 1 43663254 43663254 + Missense_Mutation SNP T T A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:43663254T>A ENST00000372492.4 + 7 1477 c.1153T>A c.(1153-1155)Tat>Aat p.Y385N WDR65_ENST00000528956.1_Missense_Mutation_p.Y385N NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 385 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTATTTGATGTATCCATTGCA 0.488000 27 81 0 0 0.00058488 0 0 ZNF816 125893 broad.mit.edu 37 19 53456034 53456034 + Missense_Mutation SNP A A G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:53456034A>G ENST00000391786.2 - 3 282 c.143T>C c.(142-144)gTt>gCt p.V48A ZNF816_ENST00000270457.4_Silent_p.L54L|ZNF816_ENST00000444460.2_Silent_p.L54L|ZNF816_ENST00000535506.1_Silent_p.L54L|ZNF816_ENST00000438970.2_Silent_p.L54L|ZNF321P_ENST00000391777.3_Silent_p.L54L|ZNF816_ENST00000434371.2_Silent_p.L54L|ZNF816_ENST00000357666.4_Silent_p.L54L Q0VGE8 ZN816_HUMAN zinc finger protein 816 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TAGTTCTCCAACATCACAGCC 0.468000 20 104 0 0 0.00188189 0 0 OR1L3 26735 broad.mit.edu 37 9 125437530 125437530 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:125437530G>A ENST00000304820.2 + 1 216 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 ACTTTGATGGGAAATCTGCTC 0.428000 19 94 0 0 0.00047179 0 0 KIF15 56992 broad.mit.edu 37 3 44879877 44879877 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:44879877C>T ENST00000326047.4 + 27 3431 c.3282C>T c.(3280-3282)acC>acT p.T1094T KIF15_ENST00000425755.1_Silent_p.T729T NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 1094 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AAGAACTGACCAAGAAGGAAG 0.527000 8 33 0 0 0.000157383 0 0 PPP1R42 286187 broad.mit.edu 37 8 67900707 67900707 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr8:67900707C>T ENST00000522909.1 - 6 782 c.598G>A c.(598-600)Gat>Aat p.D200N PPP1R42_ENST00000324682.5_Missense_Mutation_p.D200N Q7Z4L9 LRC67_HUMAN protein phosphatase 1, regulatory subunit 42 200 CCATTTAGATCAATTTTCCAC 0.308000 7 26 0 0 8.12818e-05 0 0 AQP7 364 broad.mit.edu 37 9 33395117 33395117 + Silent SNP G G T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:33395117G>T ENST00000539936.1 - 3 341 c.103C>A c.(103-105)Cga>Aga p.R35R AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR O14520 AQP7_HUMAN aquaporin 7 35 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AGGAACTCTCGCACCATCTTC 0.587000 4 39 1.23904e-05 7.95524e-05 0.000602214 1 0 ARHGEF28 64283 broad.mit.edu 37 5 73153511 73153511 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:73153511C>T ENST00000545377.1 + 15 1997 c.1821C>T c.(1819-1821)atC>atT p.I607I ARHGEF28_ENST00000437974.1_Silent_p.I607I|ARHGEF28_ENST00000287898.5_Silent_p.I607I|ARHGEF28_ENST00000296799.4_Silent_p.I294I|ARHGEF28_ENST00000296794.6_Silent_p.I607I|ARHGEF28_ENST00000513042.2_Silent_p.I607I|ARHGEF28_ENST00000426542.2_Silent_p.I607I NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 ATAAATACATCATACCTGCCA 0.353000 4 6 0 0 0.00024832 0 0 OR6V1 346517 broad.mit.edu 37 7 142749551 142749551 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:142749551G>A ENST00000418316.1 + 1 135 c.114G>A c.(112-114)atG>atA p.M38I NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TCGCCTTCATGGGAAACACCA 0.502000 18 232 0 0 0.000566183 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780745 25780745 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:25780745G>A ENST00000399878.3 - 16 2660 c.2538C>T c.(2536-2538)atC>atT p.I846I SEL1L3_ENST00000502949.1_Silent_p.I693I|SEL1L3_ENST00000264868.5_Silent_p.I811I NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 846 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GGTTGCCTGTGATATAGTAGA 0.438000 11 66 0 0 0.00136819 0 0 CCDC141 285025 broad.mit.edu 37 2 179702336 179702336 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:179702336C>T ENST00000420890.2 - 23 3727 c.3610G>A c.(3610-3612)Gaa>Aaa p.E1204K CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E629K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 629 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCATATTCTTCCCCTGAGAGC 0.567000 11 45 0 0 0.000673444 0 0 DCC 1630 broad.mit.edu 37 18 51025755 51025755 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr18:51025755G>A ENST00000442544.2 + 27 4602 c.3986G>A c.(3985-3987)aGa>aAa p.R1329K RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.R962K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1329 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCACCAAGCAGAACCATCCCC 0.542000 8 56 0 0 0.000157383 0 0 F13B 2165 broad.mit.edu 37 1 197019935 197019935 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:197019935C>T ENST00000367412.1 - 10 1673 c.1630G>A c.(1630-1632)Gaa>Aaa p.E544K F13B_ENST00000490002.1_5'UTR NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 544 Sushi 9. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GAGCCATTTTCATAGGTGTCT 0.363000 9 23 0 0 0.000274275 0 0 RGN 9104 broad.mit.edu 37 X 46951461 46951461 + Splice_Site SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:46951461G>A ENST00000397180.1 + 7 1665 c.694_splice c.e7-1 p.G232_splice RGN_ENST00000457380.1_Splice_Site_p.G160_splice|RGN_ENST00000352078.4_Splice_Site_p.G232_splice|RGN_ENST00000336169.3_Splice_Site_p.G232_splice NM_152869.2 NP_690608.1 Q15493 RGN_HUMAN regucalcin 232 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 GTGGTCTAGGGAAAAGACTTC 0.398000 4 9 0 0 0.00024832 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087307 39087307 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr21:39087307C>T ENST00000400482.3 - 3 742 c.153G>A c.(151-153)agG>agA p.R51R KCNJ6_ENST00000288309.6_Silent_p.R51R NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 51 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TCTGGATTTTCCTTTTGGTCC 0.522000 12 105 0 0 0.00136819 0 0 THSD7B 80731 broad.mit.edu 37 2 137990559 137990559 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:137990559C>T ENST00000409968.1 + 9 2184 c.2006C>T c.(2005-2007)cCt>cTt p.P669L THSD7B_ENST00000413152.2_Missense_Mutation_p.P638L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P669L 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) GAGACATCGCCTTGGGGCCCT 0.517000 6 36 0 0 0.00116845 0 0 NEK5 341676 broad.mit.edu 37 13 52676141 52676141 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr13:52676141C>T ENST00000355568.4 - 11 959 c.820G>A c.(820-822)Gaa>Aaa p.E274K NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 274 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTGAATTCTTCCTGAATGACC 0.463000 6 46 0 0 0.00116845 0 0 MYO5C 55930 broad.mit.edu 37 15 52497304 52497304 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:52497304G>A ENST00000261839.7 - 38 4739 c.4578C>T c.(4576-4578)tcC>tcT p.S1526S RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1526 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.S1526S(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GCTTCAGGCCGGAAATGCCCT 0.597000 19 79 0 0 0.000958276 0 0 CCND2 894 broad.mit.edu 37 12 4409098 4409098 + Missense_Mutation SNP C C A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:4409098C>A ENST00000261254.3 + 5 1062 c.793C>A c.(793-795)Caa>Aaa p.Q265K NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 265 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) CCGTCAGGACCAACGTGACGG 0.557000 T IGL@ """NHL,CLL""" 6 56 8.12818e-05 0.000520466 8.12818e-05 1 0 MTMR14 64419 broad.mit.edu 37 3 9743578 9743578 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:9743578C>T ENST00000296003.4 + 19 1996 c.1874C>T c.(1873-1875)cCt>cTt p.P625L MTMR14_ENST00000353332.5_Missense_Mutation_p.P573L|MTMR14_ENST00000420925.1_Missense_Mutation_p.P267L|MTMR14_ENST00000351233.5_Missense_Mutation_p.P513L NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 625 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GCCCCCAGTCCTTCCGGTGCC 0.617000 5 74 0 0 0.00116845 0 0 TREML1 340205 broad.mit.edu 37 6 41117514 41117514 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:41117514C>T ENST00000426005.2 - 6 807 c.764G>A c.(763-765)gGa>gAa p.G255E TREML1_ENST00000373127.4_3'UTR|TREML1_ENST00000437044.2_Missense_Mutation_p.G144E NM_178174.2 NP_835468.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 255 Pro-rich. calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TGAAGGTTTTCCTGATGGGGA 0.512000 10 61 0 0 0.000978159 0 0 PIEZO2 63895 broad.mit.edu 37 18 10671551 10671551 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr18:10671551G>A ENST00000302079.6 - 51 8042 c.8043C>T c.(8041-8043)atC>atT p.I2681I PIEZO2_ENST00000580640.1_Silent_p.I2769I|PIEZO2_ENST00000285141.4_Silent_p.I536I|PIEZO2_ENST00000538948.1_Silent_p.I701I|PIEZO2_ENST00000503781.3_Silent_p.I2744I Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2744 integral to membrane ion channel activity TAGTCCATTTGATCATTGTCT 0.328000 6 30 0 0 0.000157383 0 0 ELN 2006 broad.mit.edu 37 7 73474338 73474338 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:73474338G>A ENST00000252034.7 + 23 1936 c.1537G>A c.(1537-1539)Gtt>Att p.V513I ELN_ENST00000320492.7_Missense_Mutation_p.V432I|ELN_ENST00000357036.5_Missense_Mutation_p.V518I|ELN_ENST00000320399.6_Missense_Mutation_p.V513I|ELN_ENST00000358929.4_Missense_Mutation_p.V548I|ELN_ENST00000429192.1_Missense_Mutation_p.V499I|ELN_ENST00000380584.4_Missense_Mutation_p.V480I|ELN_ENST00000380575.4_Missense_Mutation_p.V484I|ELN_ENST00000445912.1_Missense_Mutation_p.V513I|ELN_ENST00000458204.1_Missense_Mutation_p.V503I|ELN_ENST00000414324.1_Missense_Mutation_p.V489I|ELN_ENST00000380576.5_Missense_Mutation_p.V494I|ELN_ENST00000380553.4_Missense_Mutation_p.V377I|ELN_ENST00000380562.4_Missense_Mutation_p.V519I|CTB-51J22.1_ENST00000435932.1_RNA NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 542 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGCTCCTGGCGTTGGCGTGGC 0.657000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 10 136 0 0 0.000673444 0 0 OR10A5 144124 broad.mit.edu 37 11 6867544 6867544 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:6867544C>T ENST00000299454.4 + 1 662 c.631C>T c.(631-633)Ccc>Tcc p.P211S OR10A5_ENST00000379831.2_Missense_Mutation_p.P215S Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGTCATGATCCCCTGCTTGCT 0.517000 32 103 0 0 0.000692331 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253837 81253837 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:81253837G>A ENST00000599697.1 - 1 138 c.139C>T c.(139-141)Cgc>Tgc p.R47C PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 47 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CGGAAGGTGCGTCCGAGTGGC 0.557000 9 58 0 0 0.000442599 0 0 PDCD2L 84306 broad.mit.edu 37 19 34900268 34900268 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:34900268C>T ENST00000246535.3 + 4 586 c.539C>T c.(538-540)cCt>cTt p.P180L PDCD2L_ENST00000587065.2_Intron NM_032346.1 NP_115722.1 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 180 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CCTGTGCCTCCTGGGCTGCCG 0.582000 9 70 0 0 0.000442599 0 0 RTDR1 27156 broad.mit.edu 37 22 23476223 23476223 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr22:23476223C>T ENST00000216036.4 - 4 607 c.411G>A c.(409-411)caG>caA p.Q137Q NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 137 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CTCTAGGCACCTGGACCAGCT 0.572000 5 31 0 0 0.00116845 0 0 LARGE 9215 broad.mit.edu 37 22 34046528 34046528 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr22:34046528G>A ENST00000354992.2 - 4 804 c.233C>T c.(232-234)gCc>gTc p.A78V LARGE_ENST00000397394.2_Missense_Mutation_p.A78V|LARGE_ENST00000402320.1_Missense_Mutation_p.A78V|LARGE_ENST00000337431.2_Missense_Mutation_p.A78V|LARGE_ENST00000437602.2_Missense_Mutation_p.A78V|LARGE_ENST00000462606.1_5'UTR NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 78 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CCTGCGGAGGGCGCGGTTCTC 0.697000 12 39 0 0 0.000978159 0 0 RDH12 145226 broad.mit.edu 37 14 68196002 68196002 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:68196002C>T ENST00000551171.1 + 8 1077 c.753C>T c.(751-753)ttC>ttT p.F251F RDH12_ENST00000267502.3_Silent_p.F251F|RDH12_ENST00000539142.1_Silent_p.F251F NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 251 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) GGCGGCTCTTCTCCCCCTTTG 0.682000 9 77 0 0 0.000274275 0 0 VPS13D 55187 broad.mit.edu 37 1 12353695 12353695 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:12353695C>T ENST00000358136.3 + 24 6097 c.5967C>T c.(5965-5967)ttC>ttT p.F1989F VPS13D_ENST00000356315.4_Silent_p.F1989F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1989 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGGTGGCCTTCATTCAGCATT 0.582000 14 54 0 0 0.000566183 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202403814 202403814 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:202403814C>T ENST00000406302.3 + 9 1325 c.1172C>T c.(1171-1173)tCc>tTc p.S391F PPP1R12B_ENST00000356764.2_Intron|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S391F|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S391F NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 391 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GTCAATCATTCCAACTCTGAA 0.368000 17 58 0 0 0.000958276 0 0 PAPPA 5069 broad.mit.edu 37 9 119106879 119106879 + Silent SNP T T G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:119106879T>G ENST00000328252.3 + 14 4038 c.3669T>G c.(3667-3669)gcT>gcG p.A1223A PAPPA_ENST00000534838.1_Silent_p.A261A NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1223 Sushi 1. 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 TGGAGAATGCTTCTCTCAATT 0.572000 13 81 0 0 0.000219431 0 0 CACNG3 10368 broad.mit.edu 37 16 24268231 24268231 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:24268231G>A ENST00000005284.3 + 1 1358 c.156G>A c.(154-156)agG>agA p.R52R NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 52 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) AAACCAGCAGGAAGAATGAAG 0.438000 10 58 0 0 0.000673444 0 0 OR1K1 392392 broad.mit.edu 37 9 125563032 125563032 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:125563032C>T ENST00000277309.2 + 1 663 c.631C>T c.(631-633)Ccc>Tcc p.P211S NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 GGTGGTCACTCCCTTCCTGCT 0.637000 6 49 0 0 0.00116845 0 0 IGHG1 3500 broad.mit.edu 37 14 106204123 106204123 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:106204123C>T ENST00000390548.2 - 0 1175 CGATCATGTTCCTGTAGTCGG 0.647000 7 25 0 0 0.000157383 0 0 NBEA 26960 broad.mit.edu 37 13 36229105 36229105 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr13:36229105G>A ENST00000540320.1 + 53 8620 c.8086G>A c.(8086-8088)Gga>Aga p.G2696R NBEA_ENST00000310336.4_Missense_Mutation_p.G2696R|NBEA_ENST00000537702.1_Missense_Mutation_p.G489R|NBEA_ENST00000379922.3_Missense_Mutation_p.G274R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2693R|NBEA_ENST00000400445.3_Missense_Mutation_p.G2696R Q8NFP9 NBEA_HUMAN neurobeachin 2696 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCTTATCTGTGGATTCTGGGA 0.358000 5 18 0 0 8.12818e-05 0 0 OR1L8 138881 broad.mit.edu 37 9 125330724 125330724 + Silent SNP G G A rs41305505 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:125330724G>A ENST00000304865.2 - 1 114 c.33C>T c.(31-33)tcC>tcT p.S11S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGATAAACTCGGAGACACTGC 0.458000 4 37 0 0 0.00024832 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805855 20805855 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:20805855C>T ENST00000577537.1 + 0 1039 RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA TGACAAAGTCCCAGGTCTCAT 0.522000 6 27 0 0 0.00116845 0 0 MAT2A 4144 broad.mit.edu 37 2 85770071 85770071 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:85770071C>T ENST00000306434.3 + 8 1122 c.999C>T c.(997-999)ttC>ttT p.F333F MAT2A_ENST00000409017.1_Silent_p.F270F NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 333 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCTCCATTTTCCATTATGGTA 0.388000 19 99 0 0 0.000958276 0 0 HNRNPM 4670 broad.mit.edu 37 19 8531250 8531250 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:8531250C>T ENST00000348943.3 + 8 877 c.645C>T c.(643-645)tcC>tcT p.S215S HNRNPM_ENST00000325495.4_Silent_p.S254S NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 254 RRM 2. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 TTGAACAGTCCATTGAAGCTG 0.398000 12 79 0 0 0.00136819 0 0 PPFIA4 8497 broad.mit.edu 37 1 203037611 203037611 + Missense_Mutation SNP T T C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:203037611T>C ENST00000367240.2 + 26 3643 c.3116T>C c.(3115-3117)gTt>gCt p.V1039A PPFIA4_ENST00000414050.2_Missense_Mutation_p.V767A|PPFIA4_ENST00000295706.4_Missense_Mutation_p.V545A|PPFIA4_ENST00000599966.1_Missense_Mutation_p.V545A|PPFIA4_ENST00000272198.6_Missense_Mutation_p.V554A|PPFIA4_ENST00000447715.2_Missense_Mutation_p.V1038A O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 554 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GACCAGGTGGTTCATTGGGTC 0.552000 3 22 0 0 6.4e-05 0 0 TRIM15 89870 broad.mit.edu 37 6 30137018 30137018 + Splice_Site SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:30137018G>A ENST00000376694.4 + 4 1178 c.708_splice c.e4-1 p.D237_splice TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 237 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TCTTTTGCAGGATGTCAGAGT 0.463000 15 50 0 0 0.000566183 0 0 OR13A1 79290 broad.mit.edu 37 10 45799868 45799868 + Translation_Start_Site SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:45799868C>T ENST00000553795.1 - 4 311 c.3G>A c.(1-3)atG>atA p.M1I OR13A1_ENST00000536058.1_Start_Codon_SNP_p.M1I|OR13A1_ENST00000374401.2_Start_Codon_SNP_p.M1I NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 TCCACAGCTTCATGTGATTTC 0.502000 9 59 0 0 0.000978159 0 0 NLRP8 126205 broad.mit.edu 37 19 56467445 56467445 + Missense_Mutation SNP C C A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:56467445C>A ENST00000291971.3 + 3 2092 c.2021C>A c.(2020-2022)tCc>tAc p.S674Y NLRP8_ENST00000590542.1_Missense_Mutation_p.S674Y NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 674 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAGCTCAGCTCCAGCTCCCAT 0.552000 14 45 2.48551e-13 1.61321e-12 0.000566183 1 0 TRAV18 28665 broad.mit.edu 37 14 22471648 22471648 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:22471648C>T ENST00000390446.3 + 0 176 GACTCGGTTACCCAGACAGAA 0.458000 9 46 0 0 0.000978159 0 0 TRPV2 51393 broad.mit.edu 37 17 16335507 16335507 + Missense_Mutation SNP G G C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:16335507G>C ENST00000338560.7 + 12 2281 c.1882G>C c.(1882-1884)Gcc>Ccc p.A628P TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.A198P NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 628 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GCTGCTGCTGGCCTACGTGCT 0.597000 6 46 0 0 0.00116845 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886157 30886157 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr22:30886157G>A ENST00000392772.2 - 12 1317 c.1040C>T c.(1039-1041)cCg>cTg p.P347L SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Silent_p.P386P|SEC14L4_ENST00000540456.1_Silent_p.P371P Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 0 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) AGGCCTTGTCGGGAAGCAGCA 0.582000 9 37 0 0 0.00136819 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292820 102292820 + RNA SNP G G C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:102292820G>C ENST00000561463.1 + 0 866 p.T136T(2) GCGTGGGAACGAGAAGACACT 0.592000 3 7 0 0 0.00024832 0 0 KRT34 3885 broad.mit.edu 37 17 39535638 39535638 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:39535638G>A ENST00000394001.1 - 5 999 c.969C>T c.(967-969)gcC>gcT p.A323A NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 323 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CGATCTCCAGGGCGTTGACTG 0.587000 5 50 0 0 8.12818e-05 0 0 CACNA1A 773 broad.mit.edu 37 19 13445289 13445289 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:13445289C>T ENST00000360228.5 - 8 1100 c.1101G>A c.(1099-1101)agG>agA p.R367R CACNA1A_ENST00000573710.2_Silent_p.R367R 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 367 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) CCACCCGTTCCCTTTCTTTGG 0.483000 10 46 0 0 0.000673444 0 0 COPB2 9276 broad.mit.edu 37 3 139090653 139090653 + Missense_Mutation SNP C C A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:139090653C>A ENST00000333188.5 - 10 1298 c.1117G>T c.(1117-1119)Ggg>Tgg p.G373W COPB2_ENST00000507777.1_Missense_Mutation_p.G344W NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 373 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 ATATACTCCCCATCACCACAC 0.433000 5 54 0.00116845 0.00740223 0.00116845 1 0 SLC6A13 6540 broad.mit.edu 37 12 369077 369077 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:369077C>T ENST00000343164.4 - 2 194 c.142G>A c.(142-144)Gag>Aag p.E48K SLC6A13_ENST00000436453.1_Missense_Mutation_p.E48K|SLC6A13_ENST00000445055.2_Missense_Mutation_p.E48K NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 48 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CCAATGATCTCCCCAGCCACT 0.537000 22 114 0 0 0.000720815 0 0 CLCA3P 9629 broad.mit.edu 37 1 87102514 87102514 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:87102514C>T ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA GGGCCCATCTCCGGTGGGGAG 0.368000 13 66 0 0 0.000308642 0 0 KCNA6 3742 broad.mit.edu 37 12 4919974 4919974 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:4919974G>A ENST00000433855.1 + 1 1633 c.767G>A c.(766-768)gGc>gAc p.G256D KCNA6_ENST00000280684.3_Missense_Mutation_p.G256D NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 256 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 ACTCTTGGGGGCTCCTTCTTT 0.562000 HNSCC(72;0.22) 12 77 0 0 0.000978159 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798432 55798432 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:55798432G>A ENST00000313555.1 + 1 538 c.538G>A c.(538-540)Gat>Aat p.D180N NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TTTTTTCTGTGATATCCCACC 0.443000 30 135 0 0 0.00178596 0 0 CCDC19 25790 broad.mit.edu 37 1 159863029 159863029 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:159863029G>A ENST00000368099.4 - 2 134 c.70C>T c.(70-72)Cgc>Tgc p.R24C CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR NM_012337.2 NP_036469.2 Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 24 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GTCCGATAGCGAGCCTTATTC 0.517000 17 105 0 0 0.000422831 0 0 DNAH3 55567 broad.mit.edu 37 16 20974825 20974825 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:20974825G>A ENST00000261383.3 - 53 10380 c.10381C>T c.(10381-10383)Cct>Tct p.P3461S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3461 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAAGACCCAGGGAGTTGCTCC 0.532000 10 35 0 0 0.000673444 0 0 H2AFX 3014 broad.mit.edu 37 11 118965752 118965752 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:118965752G>A ENST00000530167.1 - 1 425 c.353C>T c.(352-354)cCc>cTc p.P118L NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 118 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) GGTCTTCTTGGGCAGCAGCAC 0.711000 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 43 0 0 0.00152264 0 0 TMEM132B 114795 broad.mit.edu 37 12 126003993 126003993 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:126003993G>A ENST00000299308.3 + 4 1108 c.1100G>A c.(1099-1101)gGa>gAa p.G367E NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 367 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGGGTAAATGGATCCTTCTAT 0.413000 8 79 0 0 0.000442599 0 0 TPGS2 25941 broad.mit.edu 37 18 34387862 34387862 + Missense_Mutation SNP G G T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr18:34387862G>T ENST00000334295.4 - 3 628 c.201C>A c.(199-201)aaC>aaA p.N67K TPGS2_ENST00000589049.1_Missense_Mutation_p.N67K|TPGS2_ENST00000590842.1_Missense_Mutation_p.N67K|TPGS2_ENST00000593035.1_Missense_Mutation_p.N67K|TPGS2_ENST00000587129.1_Missense_Mutation_p.N67K|TPGS2_ENST00000383056.3_Missense_Mutation_p.N67K NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 67 cytoplasm|microtubule TCAGGTAAAAGTTCTTCACAT 0.463000 9 70 1.12685e-05 7.25448e-05 0.000274275 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 47 0 0 0.00127121 0 0 FLRT3 23767 broad.mit.edu 37 20 14307372 14307372 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:14307372G>A ENST00000378053.3 - 2 1037 c.781C>T c.(781-783)Cgg>Tgg p.R261W MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R261W|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 261 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GGGGGCACCCGATTGATGTGG 0.443000 7 64 0 0 8.12818e-05 0 0 SLC6A14 11254 broad.mit.edu 37 X 115577962 115577962 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:115577962G>A ENST00000371900.4 + 7 933 c.845G>A c.(844-846)cGa>cAa p.R282Q NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 282 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CTGTTAGTACGAGGTGCAACT 0.363000 27 41 0 0 0.00178596 0 0 C2CD3 26005 broad.mit.edu 37 11 73804914 73804914 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:73804914G>A ENST00000334126.7 - 18 3517 c.3291C>T c.(3289-3291)ttC>ttT p.F1097F C2CD3_ENST00000313663.7_Silent_p.F1097F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1097 centrosome 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) CCTGTGCAGAGAAAGCACTTA 0.522000 5 25 0 0 0.000602214 0 0 FKBP6 8468 broad.mit.edu 37 7 72755321 72755321 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:72755321G>A ENST00000252037.4 + 7 902 c.833G>A c.(832-834)cGa>cAa p.R278Q FKBP6_ENST00000413573.2_Missense_Mutation_p.R248Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R273Q NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 278 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TTTCTAGTTCGAGCCCAGAAG 0.458000 12 155 0 0 0.00185496 0 0 FHDC1 85462 broad.mit.edu 37 4 153896921 153896921 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:153896921C>T ENST00000511601.1 + 12 2666 c.2478C>T c.(2476-2478)tcC>tcT p.S826S FHDC1_ENST00000260008.3_Silent_p.S826S Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 826 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) ACCCTACATCCAGCCCCCCTG 0.642000 16 62 0 0 0.000308642 0 0 CDHR2 54825 broad.mit.edu 37 5 176011785 176011785 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:176011785G>A ENST00000510636.1 + 19 2777 c.2503G>A c.(2503-2505)Gat>Aat p.D835N CDHR2_ENST00000506348.1_Missense_Mutation_p.D835N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D835N NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 835 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GGTTGCCTCGGATGTGGACAC 0.612000 18 59 0 0 0.000958276 0 0 NPTX2 4885 broad.mit.edu 37 7 98254310 98254310 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:98254310C>T ENST00000265634.3 + 3 885 c.720C>T c.(718-720)atC>atT p.I240I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 240 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACGGCAAGATCAAGAAGACGC 0.592000 35 108 0 0 0.00111076 0 0 HMCN1 83872 broad.mit.edu 37 1 186088406 186088406 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:186088406C>T ENST00000271588.4 + 78 12161 c.11932C>T c.(11932-11934)Cga>Tga p.R3978* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3978* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3978 Ig-like C2-type 38. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTCTGCACATCGACACGTGAC 0.413000 31 77 0 0 0.000814825 0 0 IFLTD1 160492 broad.mit.edu 37 12 25679737 25679737 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:25679737G>A ENST00000539744.1 - 5 769 c.290C>T c.(289-291)cCa>cTa p.P97L IFLTD1_ENST00000282881.6_Missense_Mutation_p.P194L|IFLTD1_ENST00000445693.1_Missense_Mutation_p.P131L|IFLTD1_ENST00000458174.2_Missense_Mutation_p.P215L|IFLTD1_ENST00000413632.2_Missense_Mutation_p.P215L NM_001256266.1 NP_001243195.1 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 194 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) TACGATGTTTGGAAGGAATCG 0.368000 9 55 0 0 0.000673444 0 0 CHGB 1114 broad.mit.edu 37 20 5904399 5904399 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:5904399G>A ENST00000378961.4 + 4 1813 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 537 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CAGCCATTTTGAAAGAAGAGA 0.428000 21 36 0 0 0.00188189 0 0 YLPM1 56252 broad.mit.edu 37 14 75248353 75248353 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:75248353C>T ENST00000325680.7 + 4 1731 c.1607C>T c.(1606-1608)cCa>cTa p.P536L YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.P536L NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ATGCCCCCTCCAGTGTTGCCT 0.532000 20 82 0 0 0.000295444 0 0 KCNK10 54207 broad.mit.edu 37 14 88652025 88652025 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:88652025C>T ENST00000340700.5 - 7 1922 c.1471G>A c.(1471-1473)Gaa>Aaa p.E491K KCNK10_ENST00000312350.5_Missense_Mutation_p.E496K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E496K NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 491 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CACATCTTTTCCGTCTCCTCC 0.502000 7 65 0 0 0.000157383 0 0 KL 9365 broad.mit.edu 37 13 33638084 33638084 + Nonsense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr13:33638084C>T ENST00000380099.3 + 5 2808 c.2800C>T c.(2800-2802)Cag>Tag p.Q934* KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 934 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGCTGCAGATCAGTTTGAGCC 0.448000 17 99 0 0 0.000566183 0 0 TYW1B 441250 broad.mit.edu 37 7 72081809 72081809 + RNA SNP T T C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:72081809T>C ENST00000438125.1 - 0 1246 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAACTTTCTCTGCAGTAGGTA 0.498000 6 66 0 0 0.000157383 0 0 CDH18 1016 broad.mit.edu 37 5 19473773 19473773 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:19473773G>A ENST00000507958.1 - 15 2925 c.1935C>T c.(1933-1935)atC>atT p.I645I CDH18_ENST00000382275.1_Silent_p.I645I|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Silent_p.I645I|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000510297.1_5'UTR Q13634 CAD18_HUMAN cadherin 18, type 2 645 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTCTGAAATGATCAAGGGCT 0.453000 31 102 0 0 0.00058488 0 0 TPGS2 25941 broad.mit.edu 37 18 34387863 34387863 + Missense_Mutation SNP T T C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr18:34387863T>C ENST00000334295.4 - 3 627 c.200A>G c.(199-201)aAc>aGc p.N67S TPGS2_ENST00000589049.1_Missense_Mutation_p.N67S|TPGS2_ENST00000590842.1_Missense_Mutation_p.N67S|TPGS2_ENST00000593035.1_Missense_Mutation_p.N67S|TPGS2_ENST00000587129.1_Missense_Mutation_p.N67S|TPGS2_ENST00000383056.3_Missense_Mutation_p.N67S NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 67 cytoplasm|microtubule CAGGTAAAAGTTCTTCACATC 0.463000 9 71 0 0 0.000274275 0 0 SIM1 6492 broad.mit.edu 37 6 100838556 100838556 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:100838556G>A ENST00000369208.3 - 12 2764 c.1982C>T c.(1981-1983)cCc>cTc p.P661L SIM1_ENST00000262901.4_Missense_Mutation_p.P661L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 661 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) ATCCGAATTGGGACTACTTAT 0.458000 10 164 0 0 0.000442599 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908307 158908307 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:158908307G>A ENST00000368140.1 + 3 631 c.386G>A c.(385-387)gGa>gAa p.G129E PYHIN1_ENST00000392252.3_Missense_Mutation_p.G120E|PYHIN1_ENST00000368138.3_Missense_Mutation_p.G120E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G129E|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G129E NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 129 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) ACAGCTAAAGGAGCAGAGGAG 0.488000 6 37 0 0 0.000157383 0 0 PER1 5187 broad.mit.edu 37 17 8051324 8051324 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:8051324G>A ENST00000317276.4 - 10 1462 c.1225C>T c.(1225-1227)Cac>Tac p.H409Y PER1_ENST00000581082.1_Missense_Mutation_p.H389Y|PER1_ENST00000354903.5_Missense_Mutation_p.H393Y NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 409 PAS 2. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTCTTGTGGATAGCCAGC 0.637000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 4 9 0 0 0.00024832 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060335 35060335 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:35060335C>T ENST00000373913.3 + 3 695 c.215C>T c.(214-216)cCc>cTc p.P72L DLGAP4_ENST00000373907.2_Missense_Mutation_p.P72L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P72L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P72L Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 72 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGCACCTTTCCCCGCATCCAC 0.667000 10 29 0 0 0.000442599 0 0 DENND1A 57706 broad.mit.edu 37 9 126520023 126520023 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:126520023G>A ENST00000373624.2 - 5 462 c.261C>T c.(259-261)tgC>tgT p.C87C DENND1A_ENST00000394215.2_Silent_p.C57C|DENND1A_ENST00000373618.1_Silent_p.C55C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.C87C|DENND1A_ENST00000394219.3_Silent_p.C55C NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 87 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 AAGATAAGCGGCAGAACCCGA 0.488000 6 35 0 0 0.00116845 0 0 FUBP3 8939 broad.mit.edu 37 9 133495798 133495798 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:133495798G>A ENST00000319725.9 + 9 799 c.724G>A c.(724-726)Ggt>Agt p.G242S NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 242 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) TGACTTTCGGGGTGTACGCGG 0.408000 16 83 0 0 0.000422831 0 0 FAM159A 348378 broad.mit.edu 37 1 53122470 53122470 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:53122470G>A ENST00000517870.1 + 3 481 c.331G>A c.(331-333)Gag>Aag p.E111K FAM159A_ENST00000401050.3_Intron NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 111 integral to membrane endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10 AGGCCCTGAGGAGGTTTCTCC 0.562000 20 63 0 0 0.000295444 0 0 CXCL12 6387 broad.mit.edu 37 10 44871439 44871439 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:44871439C>T ENST00000374426.2 - 4 345 c.308G>A c.(307-309)gGa>gAa p.G103E CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CTTCTTTTTTCCTATCTTTTC 0.408000 37 359 0 0 0.000509022 0 0 PASK 23178 broad.mit.edu 37 2 242072321 242072321 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:242072321G>A ENST00000403638.3 - 9 1522 c.1431C>T c.(1429-1431)ctC>ctT p.L477L PASK_ENST00000405260.1_Silent_p.L477L|PASK_ENST00000234040.4_Silent_p.L477L|PASK_ENST00000539818.1_Silent_p.L261L|PASK_ENST00000358649.4_Silent_p.L477L|PASK_ENST00000544142.1_Silent_p.L291L NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 477 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGCAGGAAAGGAGCTGGCCTC 0.552000 9 37 0 0 0.000442599 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227239679 227239679 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:227239679G>A ENST00000366766.2 - 22 3854 c.2912C>T c.(2911-2913)cCc>cTc p.P971L CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 968 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GTTCTCAACGGGATCAGTCTA 0.418000 16 41 0 0 0.000422831 0 0 FAT4 79633 broad.mit.edu 37 4 126373774 126373774 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:126373774C>T ENST00000394329.3 + 9 11616 c.11603C>T c.(11602-11604)cCa>cTa p.P3868L FAT4_ENST00000335110.5_Missense_Mutation_p.P2166L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3868 EGF-like 2; calcium-binding (Potential). 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 GAATGTCTTCCATCACCTTGC 0.483000 5 30 0 0 0.00116845 0 0 BBS1 582 broad.mit.edu 37 11 66283032 66283032 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:66283032C>T ENST00000419755.3 + 5 643 c.565C>T c.(565-567)Ctg>Ttg p.L189L BBS1_ENST00000455748.2_Intron|BBS1_ENST00000393994.2_Silent_p.L152L|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Silent_p.L152L|BBS1_ENST00000537537.1_Intron CCCCTTAACCCTGAAGGAGAT 0.577000 6 45 0 0 8.12818e-05 0 0 OR8A1 390275 broad.mit.edu 37 11 124440012 124440012 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:124440012G>A ENST00000284287.3 + 1 120 c.48G>A c.(46-48)agG>agA p.R16R NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CCACCCAGAGGAGAATGGCTG 0.512000 6 31 0 0 0.00116845 0 0 TLR5 7100 broad.mit.edu 37 1 223286174 223286174 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:223286174G>A ENST00000540964.1 - 4 661 c.200C>T c.(199-201)cCc>cTc p.P67L TLR5_ENST00000342210.6_Missense_Mutation_p.P67L O60602 TLR5_HUMAN toll-like receptor 5 67 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TTCCAGAAAGGGGAAGGATGA 0.542000 11 57 0 0 0.000673444 0 0 AKAP6 9472 broad.mit.edu 37 14 33293351 33293351 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:33293351C>T ENST00000280979.4 + 13 6502 c.6332C>T c.(6331-6333)tCg>tTg p.S2111L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2111 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GACTTTTATTCGTACTTATCT 0.463000 13 60 0 0 0.00136819 0 0 FSTL5 56884 broad.mit.edu 37 4 162508718 162508718 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:162508718C>T ENST00000306100.5 - 8 1340 c.904G>A c.(904-906)Gat>Aat p.D302N FSTL5_ENST00000536695.1_Missense_Mutation_p.D301N|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.D301N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D301N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 302 Ig-like 1. 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) GACCCATCATCTCCAAAGTCC 0.323000 5 64 0 0 0.000602214 0 0 TSPEAR 54084 broad.mit.edu 37 21 45987855 45987855 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr21:45987855G>A ENST00000323084.4 - 2 182 c.117C>T c.(115-117)gtC>gtT p.V39V TSPEAR_ENST00000397916.1_5'UTR NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 39 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CATCAGAAGGGACCACTTCCG 0.607000 9 30 0 0 0.000673444 0 0 AK7 122481 broad.mit.edu 37 14 96916165 96916165 + Silent SNP G G A rs140878553 byFrequency TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:96916165G>A ENST00000267584.4 + 9 941 c.897G>A c.(895-897)ggG>ggA p.G299G NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 299 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CTGGCCCTGGGAAAATCCAGA 0.333000 8 32 0 0 0.000673444 0 0 SERPINA3 12 broad.mit.edu 37 14 95088730 95088730 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:95088730C>T ENST00000553947.1 + 7 1933 c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L SERPINA3_ENST00000467132.1_Silent_p.L324L|SERPINA3_ENST00000482740.1_Silent_p.L106L|SERPINA3_ENST00000393080.4_Silent_p.L324L|SERPINA3_ENST00000393078.3_Silent_p.L324L|SERPINA3_ENST00000556388.1_3'UTR P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 324 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GGACTATAACCTGAACGACAT 0.498000 8 51 0 0 0.000673444 0 0 OR13C4 138804 broad.mit.edu 37 9 107289152 107289152 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:107289152G>A ENST00000277216.3 - 1 338 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGCCAAGGAGGAAACATTCTG 0.443000 9 79 0 0 0.000442599 0 0 GCFC2 6936 broad.mit.edu 37 2 75929383 75929383 + Missense_Mutation SNP C C G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:75929383C>G ENST00000321027.3 - 3 694 c.561G>C c.(559-561)aaG>aaC p.K187N GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.K187N|GCFC2_ENST00000470503.1_Missense_Mutation_p.K187N NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 187 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ATGGTATTCTCTTTTCATGGT 0.373000 14 96 0 0 0.000422831 0 0 MAST4 375449 broad.mit.edu 37 5 66427663 66427663 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:66427663G>A ENST00000404260.3 + 16 2294 c.1986G>A c.(1984-1986)atG>atA p.M662I MAST4_ENST00000261569.7_Missense_Mutation_p.M465I|MAST4_ENST00000403625.2_Missense_Mutation_p.M659I|MAST4_ENST00000405643.1_Missense_Mutation_p.M480I|MAST4_ENST00000403666.1_Missense_Mutation_p.M470I O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 662 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTACTTTAATGAAAAACATGG 0.398000 16 53 0 0 0.000566183 0 0 RYR3 6263 broad.mit.edu 37 15 34118875 34118875 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:34118875G>A ENST00000389232.4 + 84 11237 c.11167G>A c.(11167-11169)Gaa>Aaa p.E3723K RYR3_ENST00000415757.3_Missense_Mutation_p.E3718K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3723 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) TTTTCAAGGTGAAAAAGTACT 0.403000 20 150 0 0 0.00152264 0 0 GFRAL 389400 broad.mit.edu 37 6 55266587 55266587 + Splice_Site SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:55266587G>A ENST00000340465.2 + 9 1207 c.e9-1 NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTTTATACAGAACTTCCAGA 0.368000 7 36 0 0 0.000157383 0 0 SYNE1 23345 broad.mit.edu 37 6 152644639 152644639 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:152644639G>A ENST00000367255.5 - 82 16492 c.15891C>T c.(15889-15891)atC>atT p.I5297I SYNE1_ENST00000448038.1_Silent_p.I5226I|SYNE1_ENST00000423061.1_Silent_p.I5226I|SYNE1_ENST00000265368.4_Silent_p.I5297I|SYNE1_ENST00000341594.5_Silent_p.I4990I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5297 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) GCATGGCGGTGATTTCCTGCA 0.557000 HNSCC(10;0.0054) 14 55 0 0 0.000308642 0 0 FGF13 2258 broad.mit.edu 37 X 137785196 137785196 + Nonsense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:137785196G>A ENST00000315930.6 - 3 1013 c.352C>T c.(352-354)Caa>Taa p.Q118* FGF13_ENST00000441825.2_Nonsense_Mutation_p.Q99*|FGF13_ENST00000370603.3_Nonsense_Mutation_p.Q128*|FGF13_ENST00000305414.4_Nonsense_Mutation_p.Q65*|FGF13_ENST00000541469.1_Nonsense_Mutation_p.Q72* NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 118 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) AGCTTGGTTTGAACTCCTTGG 0.398000 23 36 0 0 0.000720815 0 0 OR5H6 79295 broad.mit.edu 37 3 97983956 97983956 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:97983956G>A ENST00000383696.2 + 1 869 c.828G>A c.(826-828)ctG>ctA p.L276L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCAAATATCTGGGCTCTGCAT 0.423000 8 25 0 0 0.000157383 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838466 16838466 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:16838466G>A ENST00000355661.3 - 11 1757 c.1747C>T c.(1747-1749)Cca>Tca p.P583S PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P583S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P583S|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 583 Interaction with CTNND1.|Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CGCCGGGGTGGGAAGACCCTT 0.662000 8 34 0 0 0.000673444 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008250 32008250 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:32008250C>T ENST00000418967.2 + 8 1165 c.1007C>T c.(1006-1008)cCc>cTc p.P336L CYP21A2_ENST00000435122.2_Missense_Mutation_p.P306L NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 335 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 TCCCGGGTCCCCTACAAGGAC 0.667000 20 124 0 0 0.000375601 0 0 KRT34 3885 broad.mit.edu 37 17 39538267 39538267 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:39538267C>T ENST00000394001.1 - 1 388 c.358G>A c.(358-360)Gag>Aag p.E120K NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 120 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TTGTCCCGCTCCAGCTGACGC 0.592000 11 78 0 0 0.000673444 0 0 MPP5 64398 broad.mit.edu 37 14 67745903 67745903 + Missense_Mutation SNP A A C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:67745903A>C ENST00000261681.4 + 3 677 c.16A>C c.(16-18)Atg>Ctg p.M6L MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Missense_Mutation_p.M6L NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 6 tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AACATCCCATATGAATGGGCA 0.373000 3 23 0 0 0.00024832 0 0 CARS 833 broad.mit.edu 37 11 3063454 3063454 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:3063454G>A ENST00000380525.4 - 3 376 c.307C>T c.(307-309)Cct>Tct p.P103S CARS_ENST00000401769.3_Missense_Mutation_p.P33S|CARS_ENST00000397114.3_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.P20S|CARS_ENST00000397111.5_Missense_Mutation_p.P20S NM_001014437.2|NM_001194997.1 NP_001014437.1|NP_001181926.1 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 20 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CCAGCAGGAGGGGACCACTGG 0.617000 T ALK ALCL 11 61 0 0 0.00136819 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147175 52147175 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:52147175C>T ENST00000360844.6 - 5 910 c.869G>A c.(868-870)gGa>gAa p.G290E SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 290 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GAGGGCTTTTCCCTCCCGGAA 0.597000 5 18 0 0 0.000157383 0 0 CAD 790 broad.mit.edu 37 2 27446824 27446824 + Missense_Mutation SNP T T G TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:27446824T>G ENST00000264705.4 + 8 1197 c.1035T>G c.(1033-1035)gaT>gaG p.D345E CAD_ENST00000403525.1_Missense_Mutation_p.D345E NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 345 GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCCCTTCAGATATGGAACTGC 0.507000 35 180 0 0 0.000437636 0 0 NPAP1 23742 broad.mit.edu 37 15 24921893 24921893 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:24921893G>A ENST00000329468.2 + 1 1353 c.879G>A c.(877-879)ccG>ccA p.P293P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P293P(1) TAGGCTTGCCGATTCCGCTGA 0.622000 16 56 0 0 0.000958276 0 0 TMC5 79838 broad.mit.edu 37 16 19490792 19490792 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:19490792C>T ENST00000396229.2 + 14 2958 c.2209C>T c.(2209-2211)Ctt>Ttt p.L737F TMC5_ENST00000564959.1_Missense_Mutation_p.L420F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.L378F|TMC5_ENST00000542583.2_Missense_Mutation_p.L737F|TMC5_ENST00000541464.1_Missense_Mutation_p.L685F|TMC5_ENST00000219821.5_Missense_Mutation_p.L491F|TMC5_ENST00000381414.4_Missense_Mutation_p.L737F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 737 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CTACCGGCTCCTTCTGATGGA 0.483000 27 184 0 0 0.00178596 0 0 GPR137C 283554 broad.mit.edu 37 14 53099010 53099010 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:53099010G>A ENST00000321662.6 + 4 850 c.850G>A c.(850-852)Gat>Aat p.D284N NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 284 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) TTATGGCTGGGATAATCTTTC 0.368000 10 64 0 0 0.000978159 0 0 PTK6 5753 broad.mit.edu 37 20 62168598 62168598 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr20:62168598C>T ENST00000217185.2 - 1 97 c.70G>A c.(70-72)Gac>Aac p.D24N PTK6_ENST00000542869.1_5'UTR NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 24 SH3. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) AGCTCCTCGTCCGTCCGGGAC 0.711000 5 9 0 0 8.12818e-05 0 0 COL7A1 1294 broad.mit.edu 37 3 48629399 48629399 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:48629399G>A ENST00000328333.8 - 10 1396 c.1289C>T c.(1288-1290)tCc>tTc p.S430F COL7A1_ENST00000454817.1_Missense_Mutation_p.S430F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 430 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAGGAGGATGGATGTGGGGCC 0.657000 20 78 0 0 0.000375601 0 0 CBLL1 79872 broad.mit.edu 37 7 107393930 107393930 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:107393930C>T ENST00000440859.2 + 3 723 c.256C>T c.(256-258)Cct>Tct p.P86S CBLL1_ENST00000222597.2_Missense_Mutation_p.P85S|CBLL1_ENST00000415884.2_Missense_Mutation_p.P86S NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 86 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 GCGAAGATTTCCTGGACACCT 0.284000 22 39 0 0 0.00047179 0 0 FAM160A2 84067 broad.mit.edu 37 11 6236022 6236022 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:6236022G>A ENST00000265978.4 - 10 2735 c.2377C>T c.(2377-2379)Cgc>Tgc p.R793C FAM160A2_ENST00000449352.2_Missense_Mutation_p.R779C|FAM160A2_ENST00000529360.1_5'UTR NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 779 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGAAAGAGCGGAGCAGGGGC 0.602000 7 30 0 0 0.000274275 0 0 GPR112 139378 broad.mit.edu 37 X 135428902 135428902 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:135428902C>T ENST00000394143.1 + 6 3328 c.3037C>T c.(3037-3039)Cat>Tat p.H1013Y GPR112_ENST00000287534.4_Missense_Mutation_p.H950Y|GPR112_ENST00000412101.1_Missense_Mutation_p.H808Y|GPR112_ENST00000394141.1_Missense_Mutation_p.H808Y|GPR112_ENST00000370652.1_Missense_Mutation_p.H1013Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1013 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCCTGTTACTCATATGTTCTC 0.507000 18 35 0 0 0.00152264 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805856 20805856 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:20805856C>T ENST00000577537.1 + 0 1040 RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA GACAAAGTCCCAGGTCTCATC 0.522000 6 28 0 0 0.00116845 0 0 CDH9 1007 broad.mit.edu 37 5 26881418 26881418 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:26881418C>T ENST00000231021.4 - 12 2369 c.2197G>A c.(2197-2199)Gat>Aat p.D733N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 733 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 GCCAGCGAATCATATGGAGGT 0.413000 11 24 0 0 0.000673444 0 0 BUB1B 701 broad.mit.edu 37 15 40494609 40494609 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:40494609C>T ENST00000287598.6 + 13 1766 c.1571C>T c.(1570-1572)cCc>cTc p.P524L BUB1B_ENST00000412359.3_Missense_Mutation_p.P538L NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 524 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCTCTAGGTCCCAGTGTACCT 0.303000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 11 53 0 0 0.000978159 0 0 CYBB 1536 broad.mit.edu 37 X 37670055 37670055 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:37670055G>A ENST00000378588.4 + 13 1665 c.1598G>A c.(1597-1599)gGa>gAa p.G533E CYBB_ENST00000545017.1_Missense_Mutation_p.G501E|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.G266E NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 533 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 ACCAGAATAGGAGTTTTCCTC 0.438000 5 13 0 0 8.12818e-05 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16837726 16837726 + Splice_Site SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:16837726G>A ENST00000355661.3 - 12 1962 c.1953_splice c.e12+1 p.S651_splice PLEKHA7_ENST00000531066.1_Splice_Site_p.S651_splice|PLEKHA7_ENST00000448080.2_Splice_Site_p.S651_splice|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 651 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TCACCCTACCGATTTTCCATG 0.502000 12 31 0 0 0.00136819 0 0 OR8H3 390152 broad.mit.edu 37 11 55890127 55890127 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:55890127C>T ENST00000313472.3 + 1 279 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ACTATATTTCCTTCACGGGCT 0.423000 52 206 0 0 0.000781405 0 0 ARAP2 116984 broad.mit.edu 37 4 36163141 36163141 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:36163141G>A ENST00000303965.4 - 12 2694 c.2205C>T c.(2203-2205)tcC>tcT p.S735S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 735 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTCTAACCTTGGAATCTTTTG 0.348000 8 48 0 0 0.000274275 0 0 NLRP8 126205 broad.mit.edu 37 19 56459349 56459349 + Nonsense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:56459349G>A ENST00000291971.3 + 1 152 c.81G>A c.(79-81)tgG>tgA p.W27* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.W27* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 27 cytoplasm ATP binding p.W27C(2)|p.W27*(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTCCGCCCTGGACATTCTCTT 0.512000 5 67 0 0 0.00116845 0 0 PRUNE2 158471 broad.mit.edu 37 9 79465507 79465507 + Silent SNP C C T rs142442874 by1000genomes TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:79465507C>T ENST00000376718.3 - 3 339 c.216G>A c.(214-216)acG>acA p.T72T PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.T72T NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 72 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AAATAAACCTCGTCTCGGTGA 0.388000 15 135 0 0 0.000958276 0 0 ARSJ 79642 broad.mit.edu 37 4 114824400 114824400 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:114824400C>T ENST00000315366.7 - 2 1696 c.830G>A c.(829-831)aGg>aAg p.R277K ARSJ_ENST00000541197.1_Missense_Mutation_p.R277K NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 277 extracellular region arylsulfatase activity|metal ion binding p.R277K(1)|p.R277M(1) endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTCGAAATACCTGCCAGGAGC 0.423000 5 63 0 0 0.000602214 0 0 MGAM 8972 broad.mit.edu 37 7 141740608 141740608 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:141740608C>T ENST00000475668.2 + 21 2514 c.2460C>T c.(2458-2460)atC>atT p.I820I MGAM_ENST00000549489.2_Silent_p.I820I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 820 Maltase. 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) GAGGCTACATCTTCCCCACAC 0.478000 4 36 0 0 0.00024832 0 0 INTS4P2 644619 broad.mit.edu 37 7 65154345 65154345 + RNA SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:65154345G>A ENST00000430126.2 + 0 829 CCAAAGAAGGGATTCATCTTG 0.363000 7 23 0 0 0.000274275 0 0 FNTB 2342 broad.mit.edu 37 14 65470996 65470996 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:65470996C>T ENST00000246166.2 + 2 408 c.174C>T c.(172-174)gtC>gtT p.V58V CHURC1-FNTB_ENST00000542227.1_Silent_p.V12V|CHURC1-FNTB_ENST00000447296.2_Silent_p.V92V|FNTB_ENST00000555742.1_3'UTR NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) TCCAAGAGGTCTTCAGTTCTT 0.443000 22 142 0 0 0.000586117 0 0 RBM25 58517 broad.mit.edu 37 14 73578259 73578259 + Missense_Mutation SNP C C A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:73578259C>A ENST00000261973.7 + 16 2326 c.2041C>A c.(2041-2043)Cct>Act p.P681T RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.P681T NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 681 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TCCTGGTCAGCCTAATTCTGT 0.388000 9 67 1.58986e-06 1.0263e-05 0.000673444 1 0 ADCK2 90956 broad.mit.edu 37 7 140374464 140374464 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:140374464G>A ENST00000072869.4 + 2 1165 c.987G>A c.(985-987)aaG>aaA p.K329K ADCK2_ENST00000476491.1_Silent_p.K329K NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 329 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) TGCTGATGAAGATTGGCAGCC 0.532000 18 39 0 0 0.00074312 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102483833 102483833 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:102483833C>T ENST00000360184.4 + 40 8333 c.8169C>T c.(8167-8169)ctC>ctT p.L2723L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2723 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GAAAGCCCCTCTCACACAGGT 0.498000 15 58 0 0 0.000308642 0 0 P2RY10 27334 broad.mit.edu 37 X 78216281 78216281 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chrX:78216281C>T ENST00000171757.2 + 4 544 c.264C>T c.(262-264)ccC>ccT p.P88P P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.P88P NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 88 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 TATCTTTACCCCTCCGGATTT 0.458000 22 43 0 0 0.000295444 0 0 CD101 9398 broad.mit.edu 37 1 117561029 117561029 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:117561029C>T ENST00000256652.4 + 6 1922 c.1864C>T c.(1864-1866)Cgt>Tgt p.R622C CD101_ENST00000369470.1_Missense_Mutation_p.R622C 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 622 Ig-like C2-type 5. 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 GTCTTTATTTCGTTCACAACT 0.448000 12 46 0 0 0.00185496 0 0 NRP2 8828 broad.mit.edu 37 2 206630209 206630209 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:206630209G>A ENST00000360409.3 + 14 3110 c.2319G>A c.(2317-2319)gaG>gaA p.E773E NRP2_ENST00000357118.4_Silent_p.E773E|NRP2_ENST00000540841.1_Silent_p.E773E|NRP2_ENST00000272849.3_Silent_p.E773E|NRP2_ENST00000412873.2_Silent_p.E773E|NRP2_ENST00000357785.5_Silent_p.E773E|NRP2_ENST00000540178.1_Silent_p.E773E|NRP2_ENST00000485684.1_3'UTR NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 773 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 TTGTGTTCGAGGGAGTGATAG 0.468000 14 150 0 0 0.000308642 0 0 TIMM50 92609 broad.mit.edu 37 19 39976891 39976891 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:39976891C>T ENST00000314349.4 + 7 999 c.866C>T c.(865-867)cCt>cTt p.P289L TIMM50_ENST00000544017.1_Missense_Mutation_p.P73L|TIMM50_ENST00000607714.1_Missense_Mutation_p.P186L|TIMM50_ENST00000599794.1_Intron NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 186 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTTGCCCCTTTATATGAA 0.547000 27 232 0 0 0.00127121 0 0 XDH 7498 broad.mit.edu 37 2 31565072 31565072 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:31565072C>T ENST00000379416.3 - 32 3544 c.3496G>A c.(3496-3498)Gac>Aac p.D1166N NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1166 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTTAGGCAGTCGATTTCTACT 0.443000 12 63 0 0 0.00136819 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331977 17331977 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:17331977G>A ENST00000452699.1 - 3 369 c.180C>T c.(178-180)atC>atT p.I60I ATP13A2_ENST00000341676.5_Silent_p.I60I|ATP13A2_ENST00000326735.8_Silent_p.I60I NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 60 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GCAGCAAAGGGATCCCAGCCA 0.627000 12 12 0 0 0.00185496 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475680 42475680 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:42475680G>A ENST00000434000.1 - 9 3813 c.3531C>T c.(3529-3531)tcC>tcT p.S1177S GPATCH8_ENST00000591680.1_Silent_p.S1255S Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1255 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCTATCCAGGGACTCCAGGG 0.597000 16 115 0 0 0.000566183 0 0 FAM21C 253725 broad.mit.edu 37 10 46261178 46261178 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:46261178G>A ENST00000336378.4 + 19 1907 c.1789G>A c.(1789-1791)Gct>Act p.A597T FAM21C_ENST00000359860.4_Missense_Mutation_p.A541T|FAM21C_ENST00000540872.1_Missense_Mutation_p.A597T|FAM21C_ENST00000537517.1_Missense_Mutation_p.A573T|FAM21C_ENST00000374362.2_Missense_Mutation_p.A597T NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 597 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GTCTCTACAAGCTCAGAGAGA 0.433000 20 187 0 0 0.000375601 0 0 DLG2 1740 broad.mit.edu 37 11 83691581 83691581 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:83691581C>T ENST00000398309.2 - 7 1179 c.709G>A c.(709-711)Gga>Aga p.G237R DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.G237R|DLG2_ENST00000524982.1_Missense_Mutation_p.G237R|DLG2_ENST00000280241.8_Missense_Mutation_p.G276R|DLG2_ENST00000531015.1_Missense_Mutation_p.G204R|DLG2_ENST00000418306.2_Missense_Mutation_p.G186R|DLG2_ENST00000376104.2_Missense_Mutation_p.G342R|DLG2_ENST00000398301.2_Missense_Mutation_p.G276R|DLG2_ENST00000543673.1_Missense_Mutation_p.G342R|DLG2_ENST00000330014.6_Missense_Mutation_p.G176R NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 237 PDZ 2. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGCAACCTTCCATCTTTTTGT 0.408000 6 57 0 0 0.00116845 0 0 ENTHD1 150350 broad.mit.edu 37 22 40161585 40161585 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr22:40161585G>A ENST00000325157.6 - 6 1112 c.862C>T c.(862-864)Cct>Tct p.P288S NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 288 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) TGCCCAGAAGGACTATTTTCT 0.333000 7 96 0 0 8.12818e-05 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573298 140573298 + Silent SNP C C T rs139481353 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr5:140573298C>T ENST00000239446.4 + 1 1357 c.1173C>T c.(1171-1173)ttC>ttT p.F391F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 391 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGCCATTCCTACTAAAAC 0.433000 5 31 0 0 0.000602214 0 0 MAT1A 4143 broad.mit.edu 37 10 82045326 82045326 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:82045326G>A ENST00000372213.3 - 2 371 c.111C>T c.(109-111)atC>atT p.I37I NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 37 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CTGCATCACTGATCTGGTCAC 0.448000 6 37 0 0 8.12818e-05 0 0 C19orf12 83636 broad.mit.edu 37 19 30193665 30193665 + Missense_Mutation SNP T T C TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:30193665T>C ENST00000323670.9 - 3 519 c.380A>G c.(379-381)aAc>aGc p.N127S C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.N138S|C19orf12_ENST00000592153.1_3'UTR|C19orf12_ENST00000392276.1_Missense_Mutation_p.N63S NM_001256047.1|NM_031448.4 NP_001242976.1|NP_113636.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 127 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) GGTGACGTAGTTCACCAGCAT 0.632000 6 24 0 0 8.12818e-05 0 0 LCT 3938 broad.mit.edu 37 2 136570134 136570134 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:136570134G>A ENST00000264162.2 - 7 2110 c.2100C>T c.(2098-2100)atC>atT p.I700I NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 700 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CATAGCTAGGGATGCAGGTGT 0.552000 8 38 0 0 0.00136819 0 0 SLIT1 6585 broad.mit.edu 37 10 98763970 98763970 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr10:98763970C>T ENST00000266058.4 - 34 3965 c.3720G>A c.(3718-3720)acG>acA p.T1240T ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.T1240T NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1240 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CATCGTTGATCGTCTCAGCAC 0.572000 8 96 0 0 0.000673444 0 0 BRINP1 1620 broad.mit.edu 37 9 121929768 121929768 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:121929768G>A ENST00000265922.3 - 8 2341 c.1880C>T c.(1879-1881)aCc>aTc p.T627I DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 627 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 TCGCAGTAGGGTAGGTAGCCG 0.532000 18 100 0 0 0.00074312 0 0 PDGFRA 5156 broad.mit.edu 37 4 55152108 55152108 + Missense_Mutation SNP C C T rs121913263 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:55152108C>T ENST00000257290.5 + 18 2871 c.2540C>T c.(2539-2541)tCg>tTg p.S847L FIP1L1_ENST00000507166.1_Missense_Mutation_p.S607L NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 847 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.M844_S847del(2)|p.H845_N848>P(1)|p.S847fs*1(1)|p.D842_S847>EA(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATGCATGATTCGAACTATGTG 0.493000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 10 93 0 0 0.000673444 0 0 KIF1A 547 broad.mit.edu 37 2 241727552 241727552 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:241727552G>A ENST00000498729.2 - 4 525 c.279C>T c.(277-279)atC>atT p.I93I KIF1A_ENST00000320389.7_Silent_p.I93I NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 93 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CATAGGCGAAGATGCACACGT 0.607000 5 6 0 0 0.000602214 0 0 CD36 948 broad.mit.edu 37 7 80302686 80302686 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:80302686G>A ENST00000435819.1 + 16 1899 c.1215G>A c.(1213-1215)ctG>ctA p.L405L CD36_ENST00000534394.1_Silent_p.L329L|CD36_ENST00000433696.2_Silent_p.L366L|CD36_ENST00000538969.1_Silent_p.L345L|CD36_ENST00000309881.7_Silent_p.L405L|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000447544.2_Silent_p.L405L|CD36_ENST00000394788.3_Silent_p.L405L|CD36_ENST00000432207.1_Silent_p.L405L P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 405 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TAAAGAATCTGAAGAGGAACT 0.249000 8 92 0 0 0.000274275 0 0 PTCRA 171558 broad.mit.edu 37 6 42891008 42891008 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:42891008C>T ENST00000304672.1 + 2 383 c.302C>T c.(301-303)tCc>tTc p.S101F PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.S76F NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 101 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GAGCTGGCATCCTGGGAGCCT 0.627000 11 54 0 0 0.000978159 0 0 FCGBP 8857 broad.mit.edu 37 19 40405988 40405988 + Nonsense_Mutation SNP G G A rs144236712 TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:40405988G>A ENST00000221347.6 - 10 4865 c.4858C>T c.(4858-4860)Cag>Tag p.Q1620* NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1620 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGTGTTCCTGGCACACCATG 0.637000 6 23 0 0 0.00116845 0 0 THSD7B 80731 broad.mit.edu 37 2 137990496 137990496 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr2:137990496C>T ENST00000409968.1 + 9 2121 c.1943C>T c.(1942-1944)gCt>gTt p.A648V THSD7B_ENST00000413152.2_Missense_Mutation_p.A617V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.A648V 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) CCTAGTCAGGCTCTCCAAGAG 0.458000 9 29 0 0 0.000442599 0 0 SMARCA5 8467 broad.mit.edu 37 4 144468576 144468576 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr4:144468576G>A ENST00000283131.3 + 21 3154 c.2692G>A c.(2692-2694)Gag>Aag p.E898K NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 898 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) CCAGGACATAGAGAAGATTAT 0.338000 10 48 0 0 0.000978159 0 0 ZNF136 7695 broad.mit.edu 37 19 12297721 12297721 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:12297721C>T ENST00000343979.4 + 4 668 c.528C>T c.(526-528)acC>acT p.T176T ZNF136_ENST00000398616.2_Silent_p.T110T NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 176 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 GTGGAAAAACCTTCTTTTCTC 0.383000 4 26 0 0 0.00024832 0 0 FAM131B 9715 broad.mit.edu 37 7 143053789 143053789 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:143053789C>T ENST00000409408.1 - 6 2561 c.853G>A c.(853-855)Gaa>Aaa p.E285K FAM131B_ENST00000409578.1_Missense_Mutation_p.E301K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E285K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E313K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E285K Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 285 Poly-Glu. E -> G (in Ref. 6; AAH45611). breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GCATCCTCTTCCTCCTCAGGT 0.627000 8 157 0 0 0.000442599 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798797 55798797 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr11:55798797C>T ENST00000313555.1 + 1 903 c.903C>T c.(901-903)ctC>ctT p.L301L NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) AAAATGCTCTCAAAAAGCTAT 0.303000 8 54 0 0 0.000157383 0 0 KCNE2 9992 broad.mit.edu 37 21 35743057 35743057 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr21:35743057G>A ENST00000290310.2 + 2 420 c.280G>A c.(280-282)Gaa>Aaa p.E94K NM_172201.1 NP_751951.1 Q9Y6J6 KCNE2_HUMAN potassium voltage-gated channel, Isk-related family, member 2 94 blood circulation|muscle contraction|regulation of heart contraction lysosome|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(1) 2 GGACTGGCAGGAAAAGTACAA 0.493000 74 247 0 0 0.000781405 0 0 ACACB 32 broad.mit.edu 37 12 109660343 109660343 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:109660343C>T ENST00000338432.7 + 25 3715 c.3596C>T c.(3595-3597)tCg>tTg p.S1199L ACACB_ENST00000377854.5_Missense_Mutation_p.S1129L|ACACB_ENST00000377848.3_Missense_Mutation_p.S1199L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1199 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCTTCCCTGTCGGACGAGCTG 0.572000 5 57 0 0 8.12818e-05 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078450 107078450 + RNA SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr14:107078450C>T ENST00000390628.2 - 0 334 GTGGACATGTCCCTGGTAATG 0.537000 16 140 0 0 0.000308642 0 0 COL1A1 1277 broad.mit.edu 37 17 48263699 48263699 + Silent SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:48263699C>T ENST00000225964.5 - 49 4102 c.3984G>A c.(3982-3984)gaG>gaA p.E1328E NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1328 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CGGTCATGCTCTCGCCGAACC 0.572000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 6 80 0 0 8.12818e-05 0 0 ABCC12 94160 broad.mit.edu 37 16 48138108 48138108 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:48138108G>A ENST00000311303.3 - 20 3190 c.2845C>T c.(2845-2847)Cct>Tct p.P949S ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 949 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) AGGACAGCAGGAAACACAGCA 0.478000 10 68 0 0 0.000442599 0 0 SPIRE2 84501 broad.mit.edu 37 16 89920709 89920709 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr16:89920709C>T ENST00000378247.3 + 4 704 c.661C>T c.(661-663)Cgg>Tgg p.R221W SPIRE2_ENST00000393062.2_Missense_Mutation_p.R221W NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 221 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) GCAGAAGCTTCGGGAGGACGA 0.642000 4 9 0 0 0.00116845 0 0 PLIN4 729359 broad.mit.edu 37 19 4512463 4512463 + Silent SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:4512463G>A ENST00000301286.3 - 3 1466 c.1467C>T c.(1465-1467)tcC>tcT p.S489S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 489 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane p.S417S(1)|p.S489S(1) NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGAGCCCAGTGGACACAGCAT 0.617000 6 82 0 0 0.000157383 0 0 KRT40 125115 broad.mit.edu 37 17 39139319 39139319 + Missense_Mutation SNP G G T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr17:39139319G>T ENST00000377755.4 - 2 543 c.509C>A c.(508-510)gCc>gAc p.A170D KRT40_ENST00000398486.2_Missense_Mutation_p.A170D Q6A162 K1C40_HUMAN keratin 40 170 Coil 1B.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GTCATCAGTGGCCAGTTTGCA 0.353000 11 167 0.00010058 0.000642309 0.00136819 1 0 EPHA6 285220 broad.mit.edu 37 3 97439220 97439220 + Missense_Mutation SNP G G A TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr3:97439220G>A ENST00000389672.5 + 15 2938 c.2900G>A c.(2899-2901)gGa>gAa p.G967E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 872 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 ATGTCCTATGGAGAGAGACCT 0.448000 19 52 0 0 0.00121646 0 0 DHX9 1660 broad.mit.edu 37 1 182844081 182844083 + In_Frame_Del DEL GAT GAT - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr1:182844081_182844083delGAT ENST00000367549.3 + 16 1917_1919 c.1807_1809delGAT c.(1807-1809)del p.D605del NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 605 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 tggtggtgaggatgatgatgTAA 0.365 10 61 --- --- --- --- RNF146 81847 broad.mit.edu 37 6 127608556 127608558 + In_Frame_Del DEL AGA AGA - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr6:127608556_127608558delAGA ENST00000368314.1 + 3 1222_1224 c.798_800delAGA c.(796-801)gga>gg p.GE266del RNF146_ENST00000356799.2_In_Frame_Del_p.GE265del|RNF146_ENST00000309649.3_In_Frame_Del_p.GE265del NM_001242849.1|NM_001242850.1|NM_001242851.1 NP_001229778.1|NP_001229779.1|NP_001229780.1 Q9NTX7 RN146_HUMAN ring finger protein 146 266 positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) GGGGAGAAGGAGAAGAAGATCAT 0.463 8 44 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 7 207 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 7 83 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 4 9 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 2 4 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22328cd1-91d2-422e-8fd8-e23f2d6534d1 468ac982-9b6d-43d1-8af4-df6961fd9ca7 g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 7 17 --- --- --- ---