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 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 3 40 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97820972 97820972 + Missense_Mutation SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr7:97820972G>A ENST00000297293.5 + 11 1488 c.1195G>A c.(1195-1197)Gcg>Acg p.A399T NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 399 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AAAGAGACCCGCGGCTGAAGA 0.507000 22 24 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9540191 9540191 + Silent SNP G G T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr2:9540191G>T ENST00000281419.3 + 25 3064 c.2724G>T c.(2722-2724)ccG>ccT p.P908P ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P863P NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 908 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding p.P908P(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AAGGCCAACCGAGAGGACCTG 0.517000 3 48 1 1 1 1 0 WHAMMP3 339005 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 18 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29528441 29528441 + Nonsense_Mutation SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr17:29528441C>T ENST00000358273.4 + 11 1581 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 400 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6)|p.Q400*(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTGCCTGGCTCAGAATTCACC 0.308000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 37 11 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42780271 42780271 + Missense_Mutation SNP A A G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr13:42780271A>G ENST00000379274.2 + 21 2611 c.2182A>G c.(2182-2184)Aaa>Gaa p.K728E DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.K864E|DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E|DGKH_ENST00000337343.4_Missense_Mutation_p.K864E|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 864 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GGGTGGAACTAAAGAGGATGA 0.398000 25 22 0 0 1 0 0 CHRNA6 8973 broad.mit.edu 37 8 42608436 42608436 + Missense_Mutation SNP T T A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr8:42608436T>A ENST00000276410.2 - 6 1726 c.1371A>T c.(1369-1371)aaA>aaT p.K457N CHRNA6_ENST00000534622.1_Missense_Mutation_p.K442N NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 457 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGGCCACGTATTTCCAGTCAT 0.378000 4 219 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113423 94113423 + Silent SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr11:94113423C>T ENST00000243673.2 - 4 1335 c.1164G>A c.(1162-1164)aaG>aaA p.K388K GPR83_ENST00000539203.2_Silent_p.K346K NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 388 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGCCATCATTCTTCTCTGTCC 0.562000 15 48 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26688343 26688343 + Silent SNP G G T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr1:26688343G>T ENST00000436292.1 - 7 1494 c.1374C>A c.(1372-1374)acC>acA p.T458T ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000403843.1_Silent_p.T458T|ZNF683_ENST00000374204.1_Silent_p.T438T Q8IZ20 ZN683_HUMAN zinc finger protein 683 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGGGCAGCTGGGTGTGCACCA 0.617000 39 47 3.33393e-15 3.73401e-15 1 1 0 MAP4K3 8491 broad.mit.edu 37 2 39499635 39499635 + Silent SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr2:39499635G>A ENST00000263881.3 - 25 2167 c.1843C>T c.(1843-1845)Cta>Tta p.L615L MAP4K3_ENST00000341681.5_Silent_p.L594L|MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000536018.1_Silent_p.L168L NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 615 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GATATTGATAGCAAGCAATTG 0.279000 44 80 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187678 152187678 + Missense_Mutation SNP A A G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr1:152187678A>G ENST00000368801.2 - 3 6502 c.6427T>C c.(6427-6429)Tca>Cca p.S2143P FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2143 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCCTAGATGACTGTCCTGAT 0.587000 47 1241 0 0 1 0 0 USO1 8615 broad.mit.edu 37 4 76721883 76721883 + Missense_Mutation SNP C C G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr4:76721883C>G ENST00000538159.1 + 17 1822 c.1822C>G c.(1822-1824)Cca>Gca p.P608A USO1_ENST00000514213.2_Missense_Mutation_p.P584A O60763 USO1_HUMAN USO1 vesicle transport factor 599 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAAACCCCAGCCAAACTTTCC 0.353000 3 39 0 0 1 0 0 GUSBP1 728411 broad.mit.edu 37 5 21491513 21491513 + RNA SNP G G A TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr5:21491513G>A ENST00000607545.1 + 0 179 NR_027026.1 AAACAAAGTCGTGGACAACCA 0.547000 5 38 0 0 1 0 0 FAM155B 27112 broad.mit.edu 37 X 68749682 68749682 + Silent SNP C C T TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chrX:68749682C>T ENST00000252338.4 + 3 1344 c.1302C>T c.(1300-1302)tgC>tgT p.C434C NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 435 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 TCCGGCTCTGCGTCCTTGTTC 0.657000 3 48 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403499 69403499 + Silent SNP G G C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr4:69403499G>C ENST00000317746.2 - 6 1479 c.1437C>G c.(1435-1437)gtC>gtG p.V479V NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 479 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TGTGGGCTGCGACCCGAAGGT 0.483000 97 9 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14599931 14599931 + Missense_Mutation SNP G G C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr12:14599931G>C ENST00000544627.1 + 6 2283 c.1963G>C c.(1963-1965)Gcc>Ccc p.A655P ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A647P Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 647 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GGCCAAGATAGCCAGGTTAAC 0.269000 6 64 0 0 1 0 0 TRMT6 51605 broad.mit.edu 37 20 5924293 5924293 + Silent SNP C C A rs138159047 TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr20:5924293C>A ENST00000203001.2 - 6 709 c.579G>T c.(577-579)acG>acT p.T193T TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 193 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 TATTTCCCAACGTCAACATCT 0.378000 4 177 0.014758 0.0153046 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 3 41 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100369004 100369004 + Missense_Mutation SNP G G C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr6:100369004G>C ENST00000281806.2 - 6 1149 c.835C>G c.(835-837)Cag>Gag p.Q279E MCHR2_ENST00000445970.1_Missense_Mutation_p.Q279E|MCHR2_ENST00000369212.1_Missense_Mutation_p.Q279E NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 279 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) AGTGTGGGCTGTTCCATCTGT 0.473000 8 97 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 4 71 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123868486 123868486 + Splice_Site DEL T T - TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr6:123868486delT ENST00000334268.4 - 4 740 c.424_splice c.e4+1 p.K141_splice TRDN_ENST00000398178.3_Splice_Site_p.K141_splice|TRDN_ENST00000542443.1_Splice_Site_p.K141_splice|TRDN_ENST00000546248.1_Splice_Site_p.K141_splice Q13061 TRDN_HUMAN triadin 141 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) ACAACTAACCTTTTTTTCTCA 0.249 2 4 --- --- --- --- SNRPD2 6633 broad.mit.edu 37 19 46191718 46191721 + Frame_Shift_Del DEL TGAC TGAC - TCGA-RW-A67Y-01A-11D-A35D-08 TCGA-RW-A67Y-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86ddc9a8-ba40-4b92-8a62-6c0531ec068e 3daca529-5a71-4da4-81b1-4f62a7d97670 g.chr19:46191718_46191721delTGAC ENST00000342669.3 - 2 550_553 c.106_109delGTCA c.(106-111)agfs p.VK36fs SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs NM_004597.5 NP_004588.1 P62316 SMD2_HUMAN small nuclear ribonucleoprotein D2 polypeptide 16.5kDa 36 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) GTATTGTTCTTGACTGACTGTGTG 0.544 25 55 --- --- --- ---