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 CDYL2 124359 broad.mit.edu 37 16 80718510 80718510 + Silent SNP A A G TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr16:80718510A>G uc002ffs.3 - 1 646 c.541T>C c.(541-543)Ttg>Ctg p.L181L NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 181 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TGATCATTCAAATCCAAGCCA 0.512000 3 113 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962864 117962864 + Missense_Mutation SNP A A T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr12:117962864A>T uc001two.2 - 13 1980 c.1925T>A c.(1924-1926)cTc>cAc p.L642H NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 671 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTTCCAATGAGCTCGCCGAT 0.622000 5 82 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37836265 37836265 + Missense_Mutation SNP A A G TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr4:37836265A>G uc011byb.1 + 2 348 c.275A>G c.(274-276)cAa>cGa p.Q92R PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_Intron NM_018290 NP_060760 Q96G03 PGM2_HUMAN Homo sapiens phosphoglucomutase 2 (PGM2), mRNA. 92 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 CTGGAAAAACAATTCAGTGAC 0.343000 88 112 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78079688 78079688 + Silent SNP C C T rs149814041 TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr17:78079688C>T uc002jxp.3 + 2 1054 c.687C>T c.(685-687)cgC>cgT p.R229R GAA_uc002jxo.3_Silent_p.R229R|GAA_uc002jxq.3_Silent_p.R229R NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 229 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) TGGACGGCCGCGTGCTGTGAG 0.657000 9 76 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50866169 50866169 + Missense_Mutation SNP C C A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr18:50866169C>A uc002lfe.2 + 14 2867 c.2251C>A c.(2251-2253)Cca>Aca p.P751T DCC_uc010xdr.1_Missense_Mutation_p.P599T|DCC_uc010dpf.2_Missense_Mutation_p.P406T NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 751 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCCTTGAACCCAAACATCGT 0.473000 7 96 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219299353 219299353 + Silent SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr2:219299353G>A uc002via.3 + 13 1670 c.1605G>A c.(1603-1605)gcG>gcA p.A535A VIL1_uc010zke.2_Silent_p.A224A|VIL1_uc002vib.3_Silent_p.A535A NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 535 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGTCCCAGCGCGGGCCAATT 0.567000 4 118 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8647917 8647917 + Missense_Mutation SNP C C T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr17:8647917C>T uc002gln.3 - 0 238 c.11G>A c.(10-12)gGc>gAc p.G4D CCDC42_uc002glo.3_Missense_Mutation_p.G4D NM_144681 NP_653282 Q96M95 CCD42_HUMAN Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA. 4 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TTCCATGATGCCCAGACTCAT 0.612000 34 46 0 0 1 0 0 CDKL1 8814 broad.mit.edu 37 14 50877292 50877292 + Silent SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr14:50877292G>A uc010anu.2 - 1 111 c.111C>T c.(109-111)taC>taT p.Y37Y NM_004196 NP_004187 Q00532 CDKL1_HUMAN Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA. 0 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) agtctgcaccgtagctgctag 0.498000 4 117 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 44 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44119647 44119647 + Missense_Mutation SNP G G T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr6:44119647G>T uc003owr.3 + 18 1802 c.1738G>T c.(1738-1740)Ggc>Tgc p.G580C TMEM63B_uc003ows.3_Missense_Mutation_p.G483C|TMEM63B_uc010jyz.3_Non-coding_Transcript NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN Homo sapiens transmembrane protein 63B (TMEM63B), mRNA. 580 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) AGCCTTTATCGGCAACGCCAT 0.642000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 58 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67872549 67872549 + Missense_Mutation SNP G G C TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr18:67872549G>C uc002lkp.2 - 1 102 c.34C>G c.(34-36)Cat>Gat p.H12D RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.H12D NM_173630 NP_775901 Q86VV8 RTTN_HUMAN Homo sapiens rotatin (RTTN), mRNA. 12 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GCCAGCTGATGACCTGTCAAC 0.483000 4 172 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22268620 22268620 + Missense_Mutation SNP T T A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr16:22268620T>A uc002dki.3 + 7 1300 c.815T>A c.(814-816)gTg>gAg p.V272E EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 272 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) CAGCTGATAGTGGTGGACATC 0.557000 6 157 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100014704 100014704 + Missense_Mutation SNP G G A TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr7:100014704G>A uc003uut.3 - 5 712 c.464C>T c.(463-465)aCt>aTt p.T155I ZCWPW1_uc011kjq.2_Missense_Mutation_p.T34I|ZCWPW1_uc003uur.3_Missense_Mutation_p.T34I|ZCWPW1_uc003uus.3_Missense_Mutation_p.T34I|ZCWPW1_uc011kjr.2_Missense_Mutation_p.T154I|ZCWPW1_uc003uuu.1_Missense_Mutation_p.T154I NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA. 155 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCATTATCAGTATCAGTAGC 0.433000 12 266 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128657222 128657222 + Silent SNP C C T TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chrX:128657222C>T uc011muk.1 - 0 239 c.126G>A c.(124-126)gcG>gcA p.A42A SMARCA1_uc004eun.4_Silent_p.A42A|SMARCA1_uc004eup.4_Silent_p.A42A|SMARCA1_uc011mul.1_Silent_p.A42A NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 42 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CTTCGGTGGCCGCGGCGGCCG 0.667000 5 168 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110433982 110433982 + Frame_Shift_Del DEL C C - TCGA-EL-A3MW-01A-11D-A20C-08 TCGA-EL-A3MW-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f349b8b-7642-4276-ad9a-5a76030309d8 ed837939-2741-45c0-90a3-8ec7995d5eb5 g.chr12:110433982delC uc001tps.2 - 0 213 c.48delG c.(46-48)gggfs p.G16fs GIT2_uc001tpq.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpv.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpu.2_Frame_Shift_Del_p.G16fs|GIT2_uc001tpt.2_Frame_Shift_Del_p.G16fs|GIT2_uc010sxu.1_5'UTR|GIT2_uc001tpw.3_Frame_Shift_Del_p.G16fs|GIT2_uc010sxv.1_Frame_Shift_Del_p.G16fs NM_057169 NP_476510 Q14161 GIT2_HUMAN Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA. 16 Arf-GAP. regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 ACTCACCCGGCCCGCTGCAGT 0.731 2 4 --- --- --- ---