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 PER3 8863 broad.mit.edu 37 1 7880644 7880644 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:7880644G>A uc001aop.3 + 14 2125 c.1901G>A c.(1900-1902)gGc>gAc p.G634D PER3_uc009vmg.1_Missense_Mutation_p.G634D|PER3_uc009vmh.1_Missense_Mutation_p.G627D|PER3_uc001aoo.3_Missense_Mutation_p.G626D|PER3_uc010nzw.2_Missense_Mutation_p.G315D NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 626 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTGGGGTCGGGCATAAGCCAA 0.512 LOC649330 649330 broad.mit.edu 37 1 12907821 12907821 + Missense_Mutation SNP A A T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:12907821A>T uc010obf.2 - 1 548 c.322T>A c.(322-324)Tct>Act p.S108T LOC649330_uc009vno.2_Missense_Mutation_p.S108T NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 108 nucleic acid binding|nucleotide binding AAGTCAAAAGAGGAGCCGTAC 0.493 HPCAL4 51440 broad.mit.edu 37 1 40150150 40150150 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:40150150G>A uc001cdr.3 - 1 246 c.126C>T c.(124-126)atC>atT p.I42I HPCAL4_uc010oix.2_Silent_p.I42I NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN Homo sapiens hippocalcin like 4 (HPCAL4), mRNA. 42 EF-hand 1. central nervous system development intracellular calcium ion binding breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCAGGTTGAGGATGCCGCTGG 0.627 ELTD1 64123 broad.mit.edu 37 1 79383365 79383365 + Missense_Mutation SNP T T C TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:79383365T>C uc001diq.4 - 11 1859 c.1703A>G c.(1702-1704)aAc>aGc p.N568S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 568 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AATAAAGTTGTTTTCGGTGCT 0.279 PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G G - rs115574296 by1000genomes TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:204438072delG uc001haw.3 - 2 1338 c.859delC c.(859-861)cgcfs p.R287fs PIK3C2B_uc010pqv.2_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(2) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 SLC26A9 115019 broad.mit.edu 37 1 205890886 205890886 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:205890886G>A uc001hdp.3 - 16 1977 c.1863C>T c.(1861-1863)agC>agT p.S621S SLC26A9_uc001hdo.3_Silent_p.S289S|SLC26A9_uc001hdq.3_Silent_p.S621S NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 621 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TATAGGACACGCTGGTGCCGT 0.642 WDR64 128025 broad.mit.edu 37 1 241959665 241959665 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr1:241959665G>A uc001hzg.2 + 25 3362 c.3155G>A c.(3154-3156)cGt>cAt p.R1052H WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H NM_144625 NP_653226 B1ANS9 WDR64_HUMAN Homo sapiens WD repeat domain 64 (WDR64), mRNA. 1052 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CATGTTCAACGTGAAAAAGTA 0.378 OR51B6 390058 broad.mit.edu 37 11 5373571 5373571 + Missense_Mutation SNP C C A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:5373571C>A uc010qzb.2 + 0 834 c.834C>A c.(832-834)caC>caA p.H278Q HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA. 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTACATCCACTTCCTTTTCC 0.398 ADM 133 broad.mit.edu 37 11 10327296 10327296 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:10327296C>T uc001mil.1 + 1 205 c.49C>T c.(49-51)Cta>Tta p.L17L NM_001124 NP_001115 P35318 ADML_HUMAN Homo sapiens adrenomedullin (ADM), mRNA. 17 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) GCTCGCCTTCCTAGGCGCTGA 0.612 CHST1 8534 broad.mit.edu 37 11 45671304 45671304 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:45671304C>T uc021qgn.1 - 0 1170 c.1170G>A c.(1168-1170)tcG>tcA p.S390S CHST1_uc001mys.2_Silent_p.S390S NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 390 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCTCCTCCTCCGAGGCGGCGA 0.692 OR4P4 81300 broad.mit.edu 37 11 55406609 55406609 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:55406609C>T uc010rij.2 + 0 776 c.776C>T c.(775-777)cCg>cTg p.P259L NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R258I(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TACATTAGACCGGTCACAACA 0.418 OR5D13 390142 broad.mit.edu 37 11 55541762 55541762 + Silent SNP G G A rs150209335 byFrequency TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:55541762G>A uc010ril.2 + 0 849 c.849G>A c.(847-849)gcG>gcA p.A283A NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A283A(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACACAGTGGCGATTCCAATGC 0.363 OR6Q1 219952 broad.mit.edu 37 11 57798597 57798597 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:57798597G>A uc010rjz.2 + 0 173 c.173G>A c.(172-174)cGg>cAg p.R58Q OR9Q1_uc001nmj.3_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA. 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CACCGACTACGGAGACCCATG 0.483 PLAC1L 219990 broad.mit.edu 37 11 59807922 59807922 + Translation_Start_Site SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:59807922C>T uc001nol.3 + 0 NM_173801 NP_776162 Q86WS3 PLACL_HUMAN Homo sapiens placenta-specific 1-like (PLAC1L), mRNA. extracellular region breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 TCTGCTCAGACGAAGGTCTCC 0.473 SLC22A11 55867 broad.mit.edu 37 11 64329558 64329558 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:64329558G>A uc001oai.3 + 2 954 c.580G>A c.(580-582)Gtc>Atc p.V194I SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc009ypq.3_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA. 194 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CCCAACATTCGTCATCTACTG 0.622 OREG0004030 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay RAB38 23682 broad.mit.edu 37 11 87847172 87847172 + Missense_Mutation SNP C C A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr11:87847172C>A uc001pcj.2 - 2 703 c.620G>T c.(619-621)gGc>gTc p.G207V NM_022337 NP_071732 P57729 RAB38_HUMAN Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA. 207 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTTGGCACAGCCAGAGCAGCT 0.473 CCND2 894 broad.mit.edu 37 12 4409083 4409083 + Nonsense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr12:4409083C>T uc001qmo.3 + 4 1083 c.778C>T c.(778-780)Cag>Tag p.Q260* NM_001759 NP_001750 P30279 CCND2_HUMAN Homo sapiens cyclin D2 (CCND2), mRNA. 260 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) TAGCCTGCAGCAGTACCGTCA 0.542 T IGL@ """NHL,CLL""" DDX12P 440081 broad.mit.edu 37 12 9571427 9571427 + Nonsense_Mutation SNP G G A rs150028727 by1000genomes TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr12:9571427G>A uc001qvy.1 - 2 DDX12P_uc001qvx.4_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. ACGCGGGCTCGGATCCAGGCC 0.617 PRPF40B 25766 broad.mit.edu 37 12 50030609 50030609 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr12:50030609C>T uc001rur.1 + 14 1534 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 491 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 ACGCCAACAACGCAAGAATCG 0.577 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LEMD3 23592 broad.mit.edu 37 12 65564282 65564282 + Silent SNP C C A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr12:65564282C>A uc001ssl.2 + 0 932 c.906C>A c.(904-906)gcC>gcA p.A302A LEMD3_uc009zqo.2_Silent_p.A302A NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA. 302 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) CTAAATCGGCCGGCGGCAGGC 0.622 GLT1D1 144423 broad.mit.edu 37 12 129360521 129360521 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr12:129360521G>A uc010tbh.1 + 1 107 c.98G>A c.(97-99)cGa>cAa p.R33Q GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_Non-coding_Transcript NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA. 44 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TTTGAAAGCCGATCTGAGATT 0.488 F7 2155 broad.mit.edu 37 13 113771870 113771870 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr13:113771870C>T uc001vsv.3 + 7 816 c.765C>T c.(763-765)ttC>ttT p.F255F F7_uc001vsw.3_Silent_p.F233F|F7_uc010tjt.2_Silent_p.F186F NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 255 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CCCACTGTTTCGACAAAATCA 0.622 STYX 6815 broad.mit.edu 37 14 53217446 53217446 + Nonsense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr14:53217446C>T uc010tqy.2 + 4 252 c.190C>T c.(190-192)Cga>Tga p.R64* STYX_uc001xaa.3_Nonsense_Mutation_p.R64* NM_001130701 NP_660294 Q8WUJ0 STYX_HUMAN Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA. 64 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) AATATGCATACGACAAAATAT 0.289 UNC79 57578 broad.mit.edu 37 14 94109960 94109960 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr14:94109960C>T uc001ybv.1 + 32 5696 c.5613C>T c.(5611-5613)gcC>gcT p.A1871A UNC79_uc001ybs.1_Silent_p.A1849A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2026 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 TTGGGCTAGCCATCGTGGTCC 0.498 AHNAK2 113146 broad.mit.edu 37 14 105418809 105418809 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr14:105418809G>A uc010axc.1 - 6 3099 c.2979C>T c.(2977-2979)gcC>gcT p.A993A AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A893A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 993 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCTGTCTTTGGCAGTCACGT 0.602 GOLGA8DP 100132979 broad.mit.edu 37 15 22709152 22709152 + Missense_Mutation SNP G G T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr15:22709152G>T uc010axw.2 - 10 1245 c.347C>A c.(346-348)gCg>gAg p.A116E abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.A116E|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA. GGCCTGGAGCGCTCCTGCCAC 0.607 SYNM 23336 broad.mit.edu 37 15 99671205 99671205 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr15:99671205C>T uc002bup.3 + 4 2757 c.2637C>T c.(2635-2637)gaC>gaT p.D879D SYNM_uc002buo.3_Silent_p.D879D|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 880 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CACAGAAGGACGGTGCAGTGG 0.582 GRIN2A 2903 broad.mit.edu 37 16 9857448 9857448 + Missense_Mutation SNP C C T rs149745535 TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr16:9857448C>T uc010uym.2 - 13 4263 c.3953G>A c.(3952-3954)cGg>cAg p.R1318Q GRIN2A_uc002czo.4_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1318 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R1318W(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTCCAGAAGCCGTTCCCTGTC 0.527 DNAH3 55567 broad.mit.edu 37 16 21156695 21156695 + Missense_Mutation SNP C C G TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr16:21156695C>G uc010vbe.2 - 2 255 c.255G>C c.(253-255)ttG>ttC p.L85F DNAH3_uc002die.2_Missense_Mutation_p.L56F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 85 Stem (By similarity). 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) TGCGTTGCATCAAGGGCGGGT 0.527 TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr16:24807240delA uc002dmm.3 + 8 3655 c.3541delA c.(3541-3543)aaafs p.K1181fs TNRC6A_uc010bxs.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.3_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.3_Frame_Shift_Del_p.K869fs NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA. 1181 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 SEZ6L2 26470 broad.mit.edu 37 16 29884862 29884862 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr16:29884862C>T uc010vec.2 - 12 2538 c.2293G>A c.(2293-2295)Gcc>Acc p.A765T BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.A695T|SEZ6L2_uc002dur.4_Missense_Mutation_p.A695T|SEZ6L2_uc002duq.4_Missense_Mutation_p.A765T|SEZ6L2_uc010ved.2_Missense_Mutation_p.A721T|SEZ6L2_uc002dus.4_Missense_Mutation_p.A651T NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 765 Sushi 4. 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 GACTCACAGGCGCATTTGGGG 0.672 CMTM2 146225 broad.mit.edu 37 16 66613682 66613682 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr16:66613682C>T uc002ept.3 + 0 332 c.172C>T c.(172-174)Ccc>Tcc p.P58S CMTM2_uc010cdu.3_Missense_Mutation_p.P58S NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA. 58 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) GGCGGTGCAGCCCAAGCACGA 0.557 DNAI2 64446 broad.mit.edu 37 17 72308276 72308276 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr17:72308276G>A uc002jkf.3 + 11 1739 c.1629G>A c.(1627-1629)gcG>gcA p.A543A DNAI2_uc002jkg.3_Silent_p.A531A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 543 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ACCTGGAGGCGCTGGTCAGCA 0.617 Kartagener syndrome QRICH2 84074 broad.mit.edu 37 17 74276772 74276772 + Frame_Shift_Del DEL T T - TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr17:74276772delT uc002jrd.1 - 9 4106 c.3926delA c.(3925-3927)aagfs p.K1309fs QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 1309 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCTGTTGGCCTTTTCCTTTTC 0.587 SERPINB13 5275 broad.mit.edu 37 18 61255920 61255920 + Missense_Mutation SNP G G A rs139825462 TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr18:61255920G>A uc010xep.2 + 1 187 c.19G>A c.(19-21)Gtc>Atc p.V7I SERPINB13_uc002ljc.3_Missense_Mutation_p.V7I|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA. 7 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.V7I(6) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ACTTGGCGCCGTCAGCACTCG 0.418 CLEC4M 10332 broad.mit.edu 37 19 7833731 7833731 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr19:7833731C>T uc010dvt.3 + 6 1175 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W CLEC4M_uc002mih.3_Missense_Mutation_p.R330W|CLEC4M_uc010xjw.2_Missense_Mutation_p.R286W|CLEC4M_uc010dvs.3_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.2_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.3_Missense_Mutation_p.A223V|CLEC4M_uc002mic.3_Missense_Mutation_p.A287V|CLEC4M_uc002mia.3_Missense_Mutation_p.R217W NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 353 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAGCTTCCAGCGGTACTGGAA 0.498 SLC1A6 6511 broad.mit.edu 37 19 15067440 15067440 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr19:15067440C>T uc002naa.1 - 5 1024 c.1017G>A c.(1015-1017)ctG>ctA p.L339L SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 339 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TGTACATGCCCAGCTGACCCC 0.587 KCNN1 3780 broad.mit.edu 37 19 18084899 18084899 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr19:18084899G>A uc002nht.3 + 2 512 c.202G>A c.(202-204)Gat>Aat p.D68N KCNN1_uc010xqa.1_Missense_Mutation_p.D68N NM_002248 NP_002239 Q92952 KCNN1_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA. 68 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 GGACCAGGACGATGACGAGGA 0.701 PSG4 5675 broad.mit.edu 37 19 43414919 43414919 + Silent SNP C C T rs1065506 TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr19:43414919C>T uc002ovj.1 - 2 618 c.519G>A c.(517-519)ccG>ccA p.P173P PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.P173P NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 174 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGCTTGCATCCGGAGTCTCAG 0.532 SIGLEC5 8778 broad.mit.edu 37 19 52115643 52115643 + Silent SNP G G A rs141897891 byFrequency TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr19:52115643G>A uc002pxe.3 - 8 1636 c.1497C>T c.(1495-1497)ccC>ccT p.P499P NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 499 P -> A (in dbSNP:rs3829655). cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTTGATCTCCGGGGCTGTCTG 0.507 NLRP5 126206 broad.mit.edu 37 19 56515208 56515208 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr19:56515208C>T uc002qmj.3 + 1 189 c.189C>T c.(187-189)taC>taT p.Y63Y NLRP5_uc002qmi.3_Silent_p.Y63Y NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 63 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTTCCAGCTACGGGCTGCAAT 0.423 KLF11 8462 broad.mit.edu 37 2 10186413 10186413 + Missense_Mutation SNP G G T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:10186413G>T uc002raf.1 + 1 341 c.179G>T c.(178-180)aGa>aTa p.R60I KLF11_uc021vdq.1_Missense_Mutation_p.R43I|KLF11_uc010yjc.2_Missense_Mutation_p.R43I NM_003597 NP_001171189 O14901 KLF11_HUMAN Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA. 60 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TGGGGTCAAAGATCCCAGAAA 0.537 LAPTM4A 9741 broad.mit.edu 37 2 20240757 20240757 + Missense_Mutation SNP T T A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:20240757T>A uc002rdm.3 - 1 635 c.127A>T c.(127-129)Atg>Ttg p.M43L LAPTM4A_uc010yjx.2_Missense_Mutation_p.M43L NM_014713 NP_055528 Q15012 LAP4A_HUMAN Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA. 43 transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAAATTGCCATCAATAGGTTT 0.378 PROM2 150696 broad.mit.edu 37 2 95947041 95947041 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:95947041C>T uc002suk.3 + 11 1612 c.1479C>T c.(1477-1479)ttC>ttT p.F493F PROM2_uc002suh.2_Silent_p.F493F|PROM2_uc002sui.3_Silent_p.F493F|PROM2_uc002suj.3_Silent_p.F147F|PROM2_uc002sul.3_Silent_p.F19F|PROM2_uc002sum.3_Non-coding_Transcript NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 493 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TCCTGGTGTTCGCCACCTTCC 0.642 DPP10 57628 broad.mit.edu 37 2 116534868 116534868 + Missense_Mutation SNP C C A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:116534868C>A uc002tle.3 + 13 1339 c.1318C>A c.(1318-1320)Caa>Aaa p.Q440K DPP10_uc002tla.2_Missense_Mutation_p.Q436K|DPP10_uc002tlb.2_Missense_Mutation_p.Q386K|DPP10_uc002tlc.2_Missense_Mutation_p.Q432K|DPP10_uc002tlf.2_Missense_Mutation_p.Q429K NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 436 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TGAAACTACTCAAAAAATGTG 0.378 SCN2A 6326 broad.mit.edu 37 2 166179852 166179852 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:166179852C>T uc002udc.3 + 11 2148 c.1858C>T c.(1858-1860)Cgg>Tgg p.R620W SCN2A_uc002udd.3_Missense_Mutation_p.R620W|SCN2A_uc002ude.3_Missense_Mutation_p.R620W NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 620 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ACATGGAGAACGGCGCCACAG 0.562 SPEG 10290 broad.mit.edu 37 2 220329174 220329174 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:220329174G>A uc010fwg.3 + 8 2725 c.2725G>A c.(2725-2727)Gtg>Atg p.V909M SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.V117M|SPEG_uc002vln.1_Missense_Mutation_p.V117M|SPEG_uc002vlp.1_Missense_Mutation_p.V117M|SPEG_uc002vlq.3_Missense_Mutation_p.V60M NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 909 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCGCCAGCCCGTGCGCCCAGA 0.662 SPHKAP 80309 broad.mit.edu 37 2 228856023 228856023 + Nonsense_Mutation SNP T T A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr2:228856023T>A uc002vpq.2 - 9 4788 c.4741A>T c.(4741-4743)Aag>Tag p.K1581* SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1581 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTAAGAATCTTCTTTTCTTCT 0.403 SALL4 57167 broad.mit.edu 37 20 50407509 50407509 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr20:50407509C>T uc002xwh.4 - 1 1614 c.1513G>A c.(1513-1515)Ggt>Agt p.G505S SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 505 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G505S(2) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCAGGTCACCGGGCAAGGAG 0.567 ZGPAT 84619 broad.mit.edu 37 20 62365995 62365995 + Splice_Site SNP A A C TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr20:62365995A>C uc002ygk.3 + 5 1061 c.872_splice c.e5-2 p.V291_splice ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA. 291 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CATCTCTTGCAGTGGTGGGGT 0.622 NRIP1 8204 broad.mit.edu 37 21 16339283 16339283 + Missense_Mutation SNP G G T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr21:16339283G>T uc021whl.1 - 0 1231 c.1231C>A c.(1231-1233)Cct>Act p.P411T NRIP1_uc002yjx.2_Missense_Mutation_p.P411T NM_003489 NP_003480 P48552 NRIP1_HUMAN Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA. 411 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ATAGTTGTAGGTGTACTACTT 0.373 TUBA8 51807 broad.mit.edu 37 22 18609536 18609536 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr22:18609536G>A uc002znw.1 + 2 1160 c.863G>A c.(862-864)cGc>cAc p.R288H TUBA8_uc002znv.2_Missense_Mutation_p.R264H|TUBA8_uc021wkt.1_Missense_Mutation_p.R198H NM_001193414 NP_001180343 Q9NY65 TBA8_HUMAN Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA. 264 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CCCTACCCCCGCATCCACTTC 0.567 SCUBE1 80274 broad.mit.edu 37 22 43600126 43600126 + Silent SNP G G A rs140846155 byFrequency TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr22:43600126G>A uc003bdt.2 - 21 2971 c.2844C>T c.(2842-2844)gaC>gaT p.D948D NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 948 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GCGCCAGCACGTCGAAGAGGG 0.572 IL5RA 3568 broad.mit.edu 37 3 3139660 3139660 + Silent SNP A A C TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr3:3139660A>C uc011ask.2 - 7 1247 c.603T>G c.(601-603)acT>acG p.T201T IL5RA_uc010hbq.3_Silent_p.T201T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.T201T|IL5RA_uc011asl.2_Silent_p.T201T|IL5RA_uc011asm.1_Silent_p.T201T|IL5RA_uc010hbt.2_Silent_p.T201T|IL5RA_uc011asn.1_Silent_p.T201T|IL5RA_uc010hbu.2_Silent_p.T201T NM_000564 NP_783853 Q01344 IL5RA_HUMAN Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA. 201 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TGAGGATAAAAGTCCTGGGAA 0.493 FAM19A1 407738 broad.mit.edu 37 3 68466552 68466552 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr3:68466552C>T uc003dnd.3 + 2 457 c.241C>T c.(241-243)Cgg>Tgg p.R81W FAM19A1_uc003dne.3_Missense_Mutation_p.R81W|FAM19A1_uc003dng.3_Missense_Mutation_p.R81W NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 81 endoplasmic reticulum|extracellular region p.R81Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) AACAAGAAACCGGCCTTCTTG 0.418 HPS3 84343 broad.mit.edu 37 3 148868422 148868422 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr3:148868422G>A uc003ewu.1 + 5 1340 c.1200G>A c.(1198-1200)gcG>gcA p.A400A HPS3_uc011bnq.1_Silent_p.A235A|HPS3_uc021xfk.1_Silent_p.A293A NM_032383 NP_115759 Q969F9 HPS3_HUMAN Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA. 400 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GGTGCAGTGCGGCGGCAGCTC 0.532 Hermansky-Pudlak syndrome CP 1356 broad.mit.edu 37 3 148925268 148925268 + Missense_Mutation SNP G G T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr3:148925268G>T uc003ewy.4 - 4 1171 c.918C>A c.(916-918)aaC>aaA p.N306K CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N87K|CP_uc003ewz.3_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 306 F5/8 type A 1.|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GGTAGTTCTTGTTAGTCAGTG 0.458 SAMD7 344658 broad.mit.edu 37 3 169654200 169654200 + Missense_Mutation SNP G G C TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr3:169654200G>C uc003fgd.3 + 7 1382 c.1115G>C c.(1114-1116)gGa>gCa p.G372A SAMD7_uc003fge.3_Missense_Mutation_p.G372A|SAMD7_uc011bpo.2_Missense_Mutation_p.G273A NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 372 SAM. NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GGCACTATGGGATTAAAGCTA 0.343 PCDHB12 56124 broad.mit.edu 37 5 140589502 140589502 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr5:140589502C>T uc003liz.3 + 0 1212 c.1023C>T c.(1021-1023)aaC>aaT p.N341N PCDHB12_uc011dak.2_Silent_p.N4N NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 341 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGATGTAAACGACAACGCTC 0.413 GFPT2 9945 broad.mit.edu 37 5 179731784 179731784 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr5:179731784G>A uc003mlw.1 - 16 1928 c.1830C>T c.(1828-1830)gtC>gtT p.V610V NM_005110 NP_005101 O94808 GFPT2_HUMAN Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA. 610 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GGCGGGCCGTGACTTGCTGCA 0.592 GFPT2 9945 broad.mit.edu 37 5 179731922 179731922 + Silent SNP G G C TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr5:179731922G>C uc003mlw.1 - 16 1790 c.1692C>G c.(1690-1692)acC>acG p.T564T NM_005110 NP_005101 O94808 GFPT2_HUMAN Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA. 564 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) AGTGCATGTAGGTTATCTCTT 0.537 VARS2 57176 broad.mit.edu 37 6 30883807 30883807 + Missense_Mutation SNP G G T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr6:30883807G>T uc011dmz.2 + 5 727 c.646G>T c.(646-648)Gca>Tca p.A216S VARS2_uc003nsc.2_Missense_Mutation_p.A186S|VARS2_uc003nsd.3_Missense_Mutation_p.A186S|VARS2_uc011dmx.2_Missense_Mutation_p.A186S|VARS2_uc011dmy.2_Missense_Mutation_p.A46S|VARS2_uc011dna.2_Missense_Mutation_p.A186S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank NM_001167734 NP_001161205 Q5ST30 SYVM_HUMAN Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA. 186 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TTCAGATCATGCAGGAATTGC 0.478 CLCN1 1180 broad.mit.edu 37 7 143047569 143047569 + Missense_Mutation SNP G G C TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr7:143047569G>C uc003wcr.1 + 21 2595 c.2508_splice c.e21+1 p.K836_splice CLCN1_uc011ktc.1_Splice_Site_p.K448_splice NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 836 CBS 2. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCCTGCACAAGGTGAGTCTTT 0.567 WHSC1L1 54904 broad.mit.edu 37 8 38148069 38148069 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr8:38148069G>A uc003xli.3 - 16 3560 c.3042C>T c.(3040-3042)ggC>ggT p.G1014G WHSC1L1_uc011lbm.2_Silent_p.G1014G|WHSC1L1_uc010lwe.3_Silent_p.G965G NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 1014 PWWP 2. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GGAACACTCTGCCCTGGTGTA 0.463 T NUP98 AML JPH1 56704 broad.mit.edu 37 8 75171695 75171695 + Missense_Mutation SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr8:75171695C>T uc003yae.3 - 2 1223 c.1183G>A c.(1183-1185)Gcg>Acg p.A395T JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 395 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane p.A395T(2) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GCGGCCAGCGCGGCCTGGTCG 0.597 RALYL 138046 broad.mit.edu 37 8 85774546 85774546 + Silent SNP C C T TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr8:85774546C>T uc003yct.4 + 5 602 c.468C>T c.(466-468)caC>caT p.H156H RALYL_uc003ycq.4_Silent_p.H143H|RALYL_uc003ycr.4_Silent_p.H143H|RALYL_uc003ycs.4_Silent_p.H143H|RALYL_uc010lzy.3_Silent_p.H132H|RALYL_uc003ycu.4_Silent_p.H70H NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 143 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TTGATTACCACGGGCGTGTGC 0.483 CORO2A 7464 broad.mit.edu 37 9 100897128 100897128 + Missense_Mutation SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chr9:100897128G>A uc004aym.3 - 3 544 c.428C>T c.(427-429)aCg>aTg p.T143M CORO2A_uc004ayl.3_Missense_Mutation_p.T143M NM_052820 NP_438171 Q92828 COR2A_HUMAN Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA. 143 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GTTGGCGGCCGTGGGGTGCCA 0.587 RAB9A 9367 broad.mit.edu 37 X 13727279 13727279 + Silent SNP C C G rs146572677 byFrequency TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae099ff-330f-492b-a06d-6f975e9e5aea 54dcf632-973a-4ecc-be89-c590ba1a6ad0 g.chrX:13727279C>G uc022bte.1 + 0 414 c.414C>G c.(412-414)gcC>gcG p.A138A RAB9A_uc004cvm.3_Silent_p.A138A|RAB9A_uc010neh.3_Silent_p.A138A NM_004251 NP_004242 P51151 RAB9A_HUMAN Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA. 138 protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding p.A138V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CAGAAGAAGCCCAAGCTTGGT 0.458