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 EPHA8 2046 broad.mit.edu 37 1 22924681 22924681 + Silent SNP C C T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr1:22924681C>T ENST00000166244.3 + 12 2226 c.2154C>T c.(2152-2154)aaC>aaT p.N718N NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 718 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACATGGAGAACGGCTCTCTGG 0.617 4 137 --- --- --- --- C1orf227 149643 broad.mit.edu 37 1 213009355 213009355 + Missense_Mutation SNP A A G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr1:213009355A>G ENST00000332912.3 - 2 244 c.137T>C c.(136-138)gTt>gCt p.V46A NM_001024601.2 NP_001019772.1 Q537H7 CA227_HUMAN chromosome 1 open reading frame 227 46 kidney(1)|large_intestine(1)|lung(1) 3 CCTCTTTTGAACTCTCAGTAA 0.468 22 130 --- --- --- --- TRMT61B 55006 broad.mit.edu 37 2 29074004 29074004 + Missense_Mutation SNP C C T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr2:29074004C>T ENST00000306108.5 - 5 1269 c.1246G>A c.(1246-1248)Gat>Aat p.D416N NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 416 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 AGTTGTACATCTGTGTTGATT 0.358 4 43 --- --- --- --- PPP1R21 129285 broad.mit.edu 37 2 48718172 48718172 + Missense_Mutation SNP A A G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr2:48718172A>G ENST00000294952.8 + 15 1619 c.1462A>G c.(1462-1464)Agc>Ggc p.S488G PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 488 endometrium(2)|kidney(4)|lung(9) 15 ATCCTTCTTCAGCAACAATTT 0.343 19 112 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88887559 88887559 + Missense_Mutation SNP T T C TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr2:88887559T>C ENST00000303236.3 - 8 1671 c.1370A>G c.(1369-1371)gAt>gGt p.D457G EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 457 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding p.D457G(1) ovary(3) 3 AGAAAACTTATCATTACTGAG 0.264 5 91 --- --- --- --- CCR2 729230 broad.mit.edu 37 3 46399500 46399500 + Missense_Mutation SNP G G T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr3:46399500G>T ENST00000292301.4 + 2 967 c.482G>T c.(481-483)aGt>aTt p.S161I CCR2_ENST00000400888.2_Missense_Mutation_p.S161I|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 161 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GTGGTGACAAGTGTGATCACC 0.443 5 253 --- --- --- --- GPR150 285601 broad.mit.edu 37 5 94956112 94956112 + Missense_Mutation SNP C C G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr5:94956112C>G ENST00000380007.2 + 1 331 c.133C>G c.(133-135)Cgc>Ggc p.R45G NM_199243.1 NP_954713.1 Q8NGU9 GP150_HUMAN G protein-coupled receptor 150 45 integral to membrane|plasma membrane G-protein coupled receptor activity lung(2) 2 all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051) all cancers(79;1.82e-16) CCGCCGCGTCCGCCTGGTGTT 0.726 6 25 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150947124 150947124 + Missense_Mutation SNP G G A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr5:150947124G>A ENST00000261800.5 - 1 1381 c.1369C>T c.(1369-1371)Ctc>Ttc p.L457F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 457 Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGTTGAAGAGGGGGGCATGG 0.552 4 135 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151152162 151152162 + Missense_Mutation SNP G G A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr6:151152162G>A ENST00000367328.1 + 16 2227 c.1915G>A c.(1915-1917)Ggg>Agg p.G639R PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G639R NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 639 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CAAAACAGAAGGGCAGGAGGA 0.473 4 26 --- --- --- --- CYP7A1 1581 broad.mit.edu 37 8 59410894 59410894 + Missense_Mutation SNP A A G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr8:59410894A>G ENST00000301645.3 - 2 352 c.215T>C c.(214-216)aTg>aCg p.M72T NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 72 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATATTTTCCCATTAGTTTGCA 0.388 Neonatal Giant Cell Hepatitis 33 134 --- --- --- --- CCDC180 100499483 broad.mit.edu 37 9 100071830 100071830 + Silent SNP G G A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr9:100071830G>A ENST00000375202.2 + 17 1688 c.336G>A c.(334-336)caG>caA p.Q112Q CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000357054.1_Silent_p.Q251Q|CCDC180_ENST00000529487.1_Silent_p.Q112Q|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 CCCGACAGCAGAAGTGGATGC 0.572 8 72 --- --- --- --- INVS 27130 broad.mit.edu 37 9 103055173 103055173 + Silent SNP T T C TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr9:103055173T>C ENST00000262457.2 + 14 2819 c.2634T>C c.(2632-2634)gaT>gaC p.D878D INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 878 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) AGGAGACTGATCCAGCACCTG 0.527 3 56 --- --- --- --- MURC 347273 broad.mit.edu 37 9 103348314 103348314 + Missense_Mutation SNP G G T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr9:103348314G>T ENST00000307584.5 + 2 741 c.676G>T c.(676-678)Gtg>Ttg p.V226L NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 226 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) AACTAGAATAGTGACCCCGGA 0.458 5 177 --- --- --- --- LRRC37A6P 387646 broad.mit.edu 37 10 27537935 27537935 + RNA SNP T T G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr10:27537935T>G ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA AGGCCTACTGTTCCTCTGGTG 0.507 3 131 --- --- --- --- C10orf90 118611 broad.mit.edu 37 10 128147783 128147783 + Missense_Mutation SNP C C T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr10:128147783C>T ENST00000284694.7 - 6 1843 c.1723G>A c.(1723-1725)Gca>Aca p.A575T C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 575 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) ACTTCCAGTGCTTCCTATGCA 0.483 4 72 --- --- --- --- OR5T3 390154 broad.mit.edu 37 11 56020136 56020136 + Missense_Mutation SNP T T C TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr11:56020136T>C ENST00000303059.3 + 1 461 c.461T>C c.(460-462)gTa>gCa p.V154A NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GATCACTATGTAGCCATCTAC 0.423 7 173 --- --- --- --- OTUB1 55611 broad.mit.edu 37 11 63764357 63764357 + Nonsense_Mutation SNP G G T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr11:63764357G>T ENST00000538426.1 + 5 411 c.367G>T c.(367-369)Gaa>Taa p.E123* OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000541478.1_Intron NM_017670.2 NP_060140.2 Q96FW1 OTUB1_HUMAN OTU domain, ubiquitin aldehyde binding 1 123 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 CAAGAGCAAGGAAGACCTGGT 0.622 13 42 --- --- --- --- VWA8 23078 broad.mit.edu 37 13 42404698 42404698 + Missense_Mutation SNP T T G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr13:42404698T>G ENST00000379310.3 - 14 1735 c.1667A>C c.(1666-1668)gAg>gCg p.E556A VWA8_ENST00000281496.6_Missense_Mutation_p.E556A NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CAGTTGCAGCTCCTCCTTTAA 0.368 10 47 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 9858484 9858484 + Missense_Mutation SNP C C A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr16:9858484C>A ENST00000396573.2 - 14 3226 c.2917G>T c.(2917-2919)Gat>Tat p.D973Y GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 973 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) TTGAGGTTATCCTTCTGCCGG 0.463 12 74 --- --- --- --- MPP2 4355 broad.mit.edu 37 17 41957294 41957294 + Silent SNP G G A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr17:41957294G>A ENST00000269095.4 - 11 1513 c.1209C>T c.(1207-1209)tcC>tcT p.S403S MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000461854.1_Silent_p.S427S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000520305.1_Silent_p.S264S NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 427 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) TCTCCCCACGGGACACAAAGC 0.627 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 114 --- --- --- --- RAB37 326624 broad.mit.edu 37 17 72741504 72741504 + Missense_Mutation SNP A A G TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr17:72741504A>G ENST00000392614.4 + 9 734 c.641A>G c.(640-642)tAt>tGt p.Y214C RAB37_ENST00000392613.5_Missense_Mutation_p.Y209C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C NM_001163989.1 NP_001157461.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 209 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 ATCCGAGACTATGTAGAGTCC 0.612 4 109 --- --- --- --- VAPA 9218 broad.mit.edu 37 18 9936196 9936196 + Missense_Mutation SNP G G C TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr18:9936196G>C ENST00000400000.2 + 3 577 c.322G>C c.(322-324)Gat>Cat p.D108H VAPA_ENST00000340541.4_Missense_Mutation_p.D108H|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 108 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 AAACACTTCAGATATGGAAGC 0.348 4 107 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40903197 40903197 + Silent SNP G G A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr19:40903197G>A ENST00000324001.7 - 7 1332 c.1062C>T c.(1060-1062)gcC>gcT p.A354A PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 354 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCATCTTCAGGGCCACCTCAG 0.642 3 70 --- --- --- --- ZIM2 23619 broad.mit.edu 37 19 57301240 57301240 + Splice_Site SNP C C T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr19:57301240C>T ENST00000391708.3 - 9 1019 c.477G>A c.(475-477)caG>caA p.Q159Q ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CCTGACTCACCTGGGACCCAG 0.433 4 20 --- --- --- --- PPP6R2 9701 broad.mit.edu 37 22 50862022 50862022 + Silent SNP C C T TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr22:50862022C>T ENST00000359139.3 + 10 1498 c.1104C>T c.(1102-1104)ctC>ctT p.L368L PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000395744.3_Silent_p.L368L|PPP6R2_ENST00000216061.5_Silent_p.L368L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 368 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TCTGCCGGCTCAACACGATGG 0.627 4 45 --- --- --- --- MORF4L2 9643 broad.mit.edu 37 X 102931635 102931635 + Silent SNP G G A TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chrX:102931635G>A ENST00000423833.2 - 3 1546 c.321C>T c.(319-321)ccC>ccT p.P107P MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000441076.2_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000492116.1_5'UTR Q15014 MO4L2_HUMAN mortality factor 4 like 2 107 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 TTTCAACAGTGGGGTCTGCCC 0.493 4 81 --- --- --- --- CAP1 10487 broad.mit.edu 37 1 40535451 40535451 + Frame_Shift_Del DEL T T - TCGA-HC-7750-01A-11D-2114-08 TCGA-HC-7750-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56f5e8ae-b53a-4a02-9e21-a2a03f384dc5 64835121-88ee-417e-b978-5e0eafc615b8 g.chr1:40535451delT ENST00000372797.3 + 9 1459 c.898delT c.(898-900)ttcfs p.F300fs CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs NM_001105530.1|NM_006367.3 NP_001099000|NP_006358 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 300 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-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;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCCCAAACCATTCTCTGCACC 0.527 19 101 --- --- --- ---