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 MTOR 2475 broad.mit.edu 37 1 11169351 11169351 + Silent SNP G G T TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr1:11169351G>T ENST00000361445.4 - 56 7600 c.7524C>A c.(7522-7524)ctC>ctA p.L2508L MTOR_ENST00000376838.1_Silent_p.L713L NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2508 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ACTCACCAGTGAGCTTATCTC 0.428 4 87 --- --- --- --- SSX2IP 117178 broad.mit.edu 37 1 85127952 85127952 + Missense_Mutation SNP T T C TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr1:85127952T>C ENST00000437941.2 - 7 1127 c.775A>G c.(775-777)Aag>Gag p.K259E SSX2IP_ENST00000605755.1_Missense_Mutation_p.K259E|SSX2IP_ENST00000342203.3_Missense_Mutation_p.K286E|SSX2IP_ENST00000370612.4_Missense_Mutation_p.K286E|SSX2IP_ENST00000603677.1_Intron NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 286 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATCATTTCCTTTTTCATTTGT 0.328 4 88 --- --- --- --- IQCG 84223 broad.mit.edu 37 3 197665464 197665464 + Missense_Mutation SNP T T A TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr3:197665464T>A ENST00000265239.6 - 5 894 c.470A>T c.(469-471)cAg>cTg p.Q157L IQCG_ENST00000455191.1_Missense_Mutation_p.Q157L|IQCG_ENST00000453254.1_Missense_Mutation_p.Q157L NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 157 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CATGATGGTCTGCCTTGTAGG 0.428 17 198 --- --- --- --- FGA 2243 broad.mit.edu 37 4 155510000 155510000 + Silent SNP A A G TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr4:155510000A>G ENST00000302053.3 - 3 387 c.309T>C c.(307-309)caT>caC p.H103H FGA_ENST00000403106.3_Silent_p.H103H NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 103 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TGGTCAACGAATGAGAATCCT 0.299 8 100 --- --- --- --- SHROOM1 134549 broad.mit.edu 37 5 132158689 132158689 + Silent SNP C C T TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr5:132158689C>T ENST00000378679.3 - 10 3162 c.2358G>A c.(2356-2358)ctG>ctA p.L786L SHROOM1_ENST00000378676.1_Silent_p.L717L|SHROOM1_ENST00000319854.3_Silent_p.L781L NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 786 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATAGACGCGCAGCTCCTCCA 0.706 4 39 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32522465 32522465 + RNA SNP A A G TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr6:32522465A>G ENST00000411500.1 - 0 740 NR_001298.1 AAAGCTGCTCACTCCATTCCA 0.498 6 147 --- --- --- --- ROS1 6098 broad.mit.edu 37 6 117662426 117662426 + Missense_Mutation SNP C C T TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr6:117662426C>T ENST00000368508.3 - 30 5149 c.4951G>A c.(4951-4953)Gtc>Atc p.V1651I GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1651 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCCACAGTGACAGGATGACTC 0.408 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 4 71 --- --- --- --- SAMD9 54809 broad.mit.edu 37 7 92734007 92734007 + Silent SNP T T C TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr7:92734007T>C ENST00000379958.2 - 3 1673 c.1404A>G c.(1402-1404)gtA>gtG p.V468V NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 468 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTTCTACATATACACTTGGAA 0.403 7 32 --- --- --- --- NUP205 23165 broad.mit.edu 37 7 135279306 135279306 + Silent SNP T T C TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr7:135279306T>C ENST00000285968.6 + 13 1868 c.1842T>C c.(1840-1842)gcT>gcC p.A614A NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 614 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GTGAAAATGCTCGCTTGGCAC 0.403 5 67 --- --- --- --- PAG1 55824 broad.mit.edu 37 8 81897133 81897133 + Missense_Mutation SNP G G C TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr8:81897133G>C ENST00000220597.4 - 7 1464 c.754C>G c.(754-756)Cca>Gca p.P252A NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 252 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) TCCTCTTCTGGATCACATGAA 0.478 7 93 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110442248 110442248 + Missense_Mutation SNP G G A TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr8:110442248G>A ENST00000378402.5 + 27 3315 c.3211G>A c.(3211-3213)Gcg>Acg p.A1071T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1071 IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTAGTCTTGGCGATAAGCCC 0.368 HNSCC(38;0.096) 3 22 --- --- --- --- CYB561A3 220002 broad.mit.edu 37 11 61118523 61118523 + Missense_Mutation SNP G G A TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr11:61118523G>A ENST00000544118.1 - 4 493 c.266C>T c.(265-267)tCt>tTt p.S89F CYB561A3_ENST00000447532.2_Silent_p.L215L|CYB561A3_ENST00000536915.1_Silent_p.L215L|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000294072.4_Silent_p.L215L|CYB561A3_ENST00000539890.1_Missense_Mutation_p.S94F|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000426130.2_Silent_p.L232L cytochrome b561 family, member A3 GAAGGATGTAGAGCACCAGCA 0.607 5 27 --- --- --- --- CCDC87 55231 broad.mit.edu 37 11 66358990 66358990 + Missense_Mutation SNP C C T TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr11:66358990C>T ENST00000333861.3 - 1 1564 c.1497G>A c.(1495-1497)atG>atA p.M499I NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 499 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGACATGGCTCATCAACTCCT 0.463 21 106 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56492616 56492616 + Silent SNP C C T TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr12:56492616C>T ENST00000267101.3 + 23 3206 c.2766C>T c.(2764-2766)gaC>gaT p.D922D ERBB3_ENST00000553131.1_Silent_p.D163D|ERBB3_ENST00000450146.2_Silent_p.D279D|ERBB3_ENST00000549832.1_Silent_p.D42D|ERBB3_ENST00000415288.2_Silent_p.D863D NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 922 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AAGTACCAGACCTGCTAGAGA 0.532 4 78 --- --- --- --- MBNL2 10150 broad.mit.edu 37 13 98043657 98043657 + Missense_Mutation SNP A A G TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr13:98043657A>G ENST00000376673.3 + 8 1857 c.1076A>G c.(1075-1077)tAc>tGc p.Y359C MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000345429.6_3'UTR Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 359 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) TACTGTACATACTATCCTGTT 0.363 6 66 --- --- --- --- PAX9 5083 broad.mit.edu 37 14 37132444 37132444 + Missense_Mutation SNP A A G TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr14:37132444A>G ENST00000361487.6 + 2 572 c.347A>G c.(346-348)aAt>aGt p.N116S PAX9_ENST00000402703.2_Missense_Mutation_p.N116S|PAX9_ENST00000554201.1_5'UTR P55771 PAX9_HUMAN paired box 9 116 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GACAAGTACAATGTGCCCTCC 0.607 13 117 --- --- --- --- NPC2 10577 broad.mit.edu 37 14 74959974 74959974 + Missense_Mutation SNP G G A TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr14:74959974G>A ENST00000541064.1 - 1 10 c.4C>T c.(4-6)Cgt>Tgt p.R2C NPC2_ENST00000557510.1_Missense_Mutation_p.R2C|NPC2_ENST00000555619.1_Missense_Mutation_p.R2C|NPC2_ENST00000434013.2_Missense_Mutation_p.R2C|NPC2_ENST00000238633.2_Missense_Mutation_p.R2C P61916 NPC2_HUMAN Niemann-Pick disease, type C2 2 cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus extracellular region|lysosome cholesterol binding|enzyme binding breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.00149) GCCAGGAAACGCATCGCGGAT 0.667 3 18 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921914 95921914 + Missense_Mutation SNP G G A TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr14:95921914G>A ENST00000334258.5 - 5 951 c.937C>T c.(937-939)Cgc>Tgc p.R313C SYNE3_ENST00000557275.1_Missense_Mutation_p.R313C|SYNE3_ENST00000553340.1_Missense_Mutation_p.R313C|SYNE3_ENST00000554873.1_Missense_Mutation_p.R70C NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CAGAGGGCGCGCAGCTTCTCC 0.617 6 157 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 11 105 --- --- --- --- RAB37 326624 broad.mit.edu 37 17 72736966 72736966 + Silent SNP C C T TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr17:72736966C>T ENST00000392610.1 + 2 194 c.153C>T c.(151-153)gaC>gaT p.D51D RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000340415.3_Intron Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 51 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 AATTCAAAGACGGGGCCTTCC 0.587 18 190 --- --- --- --- PLCB1 23236 broad.mit.edu 37 20 8639228 8639228 + Missense_Mutation SNP G G A TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr20:8639228G>A ENST00000378641.3 + 9 1214 c.739G>A c.(739-741)Gat>Aat p.D247N PLCB1_ENST00000378637.2_Missense_Mutation_p.D247N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D247N NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 247 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TCAGATGATGGATTTTATCAA 0.333 9 48 --- --- --- --- CFL1 1072 broad.mit.edu 37 11 65623504 65623504 + Frame_Shift_Del DEL A A - TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68b542b2-f763-47c4-9df4-3f92060c8495 5f191346-ea91-4227-861e-18f4cd4ecc5f g.chr11:65623504delA ENST00000525451.2 - 3 928 c.213delT c.(211-213)tttfs p.F71fs CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs P23528 COF1_HUMAN cofilin 1 (non-muscle) 71 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) GCATCTTGACAAAGGTGGCGT 0.537 16 121 --- --- --- ---