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 PDZD11 51248 broad.mit.edu 37 X 69508002 69508002 + Missense_Mutation SNP C C T TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chrX:69508002C>T ENST00000239666.4 - 4 325 c.193G>A c.(193-195)Gga>Aga p.G65R PDZD11_ENST00000374454.1_Missense_Mutation_p.G65R|PDZD11_ENST00000473667.1_5'UTR NM_016484.4 NP_057568.1 Q5EBL8 PDZ11_HUMAN PDZ domain containing 11 65 PDZ. basolateral plasma membrane|cytosol|extracellular region protein C-terminus binding breast(1)|endometrium(2)|large_intestine(3)|lung(3) 9 GAGGCCTTTCCTCCTCGGATG 0.438000 3 21 0 0 0.150653 0 0 COL27A1 85301 broad.mit.edu 37 9 116930153 116930153 + Silent SNP C C T TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr9:116930153C>T ENST00000356083.3 + 3 709 c.318C>T c.(316-318)tcC>tcT p.S106S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 106 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCTCTGCTCCCACCGGGTGA 0.662000 24 129 0 0 0.681144 0 0 LRP1 4035 broad.mit.edu 37 12 57605751 57605751 + Missense_Mutation SNP C C G TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr12:57605751C>G ENST00000243077.3 + 87 13766 c.13300C>G c.(13300-13302)Ctg>Gtg p.L4434V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4434 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTGCTGCTGCTGGTTCTGGT 0.547000 4 225 0 0 0.184627 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 44 0 0 0.150653 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 8 64 0 0 0.361761 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 3 62 0 0 0.115264 0 0 EME1 146956 broad.mit.edu 37 17 48458218 48458218 + Missense_Mutation SNP G G A TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr17:48458218G>A ENST00000393271.2 + 9 1752 c.1670G>A c.(1669-1671)cGc>cAc p.R557H EME1_ENST00000338165.4_Missense_Mutation_p.R544H|EME1_ENST00000511648.2_Missense_Mutation_p.R557H NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 544 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) ACTTCTCGCCGCATTGGACCA 0.498000 Direct reversal of damage;Homologous recombination 4 129 0 0 0.248553 0 0 MYLK3 91807 broad.mit.edu 37 16 46764581 46764581 + Nonsense_Mutation SNP C C A TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr16:46764581C>A ENST00000394809.4 - 5 1607 c.1492G>T c.(1492-1494)Gaa>Taa p.E498* MYLK3_ENST00000536476.1_Nonsense_Mutation_p.E157* NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 498 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ACCCGGTGTTCAAAAGGAGCT 0.597000 5 178 0.0293803 0.0310126 0.248553 1 0 KCNIP3 30818 broad.mit.edu 37 2 96047380 96047380 + Missense_Mutation SNP A A G TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:96047380A>G ENST00000295225.5 + 6 619 c.484A>G c.(484-486)Aca>Gca p.T162A KCNIP3_ENST00000468529.1_Missense_Mutation_p.T136A|KCNIP3_ENST00000360990.3_Missense_Mutation_p.T140A|KCNIP3_ENST00000377181.2_3'UTR NM_013434.4 NP_038462.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin 162 EF-hand 3. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) GCTGCGGGGCACAGTCCACGA 0.542000 9 81 0 0 0.361761 0 0 TTN 7273 broad.mit.edu 37 2 179412318 179412318 + Missense_Mutation SNP T T C TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:179412318T>C ENST00000589042.1 - 339 94259 c.94035A>G c.(94033-94035)atA>atG p.I31345M TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29704M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I28777M|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22472M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I22280M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I22405M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29704 Fibronectin type-III 128. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTTTCAACTATGTAATTAG 0.443000 3 87 0 0 0.115264 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821496 203821496 + Missense_Mutation SNP T T C TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr1:203821496T>C ENST00000545588.1 + 17 6229 c.2402T>C c.(2401-2403)cTg>cCg p.L801P ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 801 nucleic acid binding|protein binding|zinc ion binding p.L801P(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GATGACCTTCTGCTTGAGCTA 0.388000 3 62 0 0 0.115264 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44797683 44797683 + Missense_Mutation SNP G G C TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr7:44797683G>C ENST00000309315.4 + 6 912 c.789G>C c.(787-789)caG>caC p.Q263H ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q263H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q231H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q263H NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 263 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGCCCCGACAGGGGGTCAAGA 0.612000 18 91 0 0 0.639603 0 0 SKA3 221150 broad.mit.edu 37 13 21729267 21729267 + Missense_Mutation SNP G G A rs11147977 by1000genomes TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr13:21729267G>A ENST00000400018.3 - 8 1211 c.1142C>T c.(1141-1143)aCa>aTa p.T381I SKA3_ENST00000314759.5_3'UTR NM_001166017.1 NP_001159489.1 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 0 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAGTTTCTGTGTTGGATAGAT 0.363000 5 33 0 0 0.217242 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 7 217 0 0 0.361761 0 0 ABCG8 64241 broad.mit.edu 37 2 44099167 44099167 + Silent SNP G G A TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr2:44099167G>A ENST00000272286.2 + 7 1107 c.1017G>A c.(1015-1017)agG>agA p.R339R NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 339 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGCCACCAGGGAGAAGGCTC 0.547000 11 93 0 0 0.387290 0 0 RP11-544M22.1 0 broad.mit.edu 37 1 160905974 160905975 + RNA INS - - T TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr1:160905974_160905975insT ENST00000356006.3 + 0 629 tcttcttcttcttttttttttt 0.391 3 3 --- --- --- --- RMND5B 64777 broad.mit.edu 37 5 177569910 177569912 + In_Frame_Del DEL CAG CAG - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr5:177569910_177569912delCAG ENST00000515098.1 + 6 694_696 c.343_345delCAG c.(343-345)del p.Q118del RMND5B_ENST00000313386.4_In_Frame_Del_p.Q118del|RMND5B_ENST00000542098.1_In_Frame_Del_p.Q105del Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 118 LisH. p.Q115Q(1) endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGCGCGGGAACAGCAGCAGCAGA 0.616 11 325 --- --- --- --- POLR2J4 0 broad.mit.edu 37 7 44009308 44009308 + RNA DEL G G - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr7:44009308delG ENST00000427076.1 - 0 1200 NR_003655.2 CCCACTGCCCGCCCCCAGGCC 0.692 2 4 --- --- --- --- PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr12:111020740_111020742delCGC ENST00000354300.3 - 1 383_385 c.95_97delGCG c.(94-99)gac>g p.GD32del NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 AGTCCGTAGTcgccgccgccgcc 0.739 3 5 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962167 131962168 + RNA INS - - ATA rs148457819 by1000genomes TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr12:131962167_131962168insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.426 6 11 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 3 3 --- --- --- --- RP11-66N24.4 0 broad.mit.edu 37 14 24020895 24020897 + RNA DEL CCT CCT - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr14:24020895_24020897delCCT ENST00000553985.1 + 0 238 RP11-66N24.4_ENST00000556354.1_RNA NR_046052.1 tcctcctcgccctcctcctcctc 0.621 3 5 --- --- --- --- DNM1P34 0 broad.mit.edu 37 15 75595057 75595057 + RNA DEL C C - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr15:75595057delC ENST00000567292.1 - 0 249 CTCCAGGCATCCCCAGGATCT 0.607 2 4 --- --- --- --- C15orf37 283687 broad.mit.edu 37 15 80215424 80215425 + Frame_Shift_Del DEL CC CC - TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr15:80215424_80215425delCC ENST00000560255.1 + 1 312_313 c.309_310delCC c.(307-312)ctggfs p.LR103fs ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000485386.1_Intron chromosome 15 open reading frame 37 kidney(1)|lung(1)|stomach(1) 3 GAGGGATCCTCCGGGACGTCCT 0.718 2 4 --- --- --- --- MEF2A 0 broad.mit.edu 37 15 100252710 100252712 + In_Frame_Del DEL CAG CAG - rs72276751 TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr15:100252710_100252712delCAG ENST00000354410.5 + 11 1863_1865 c.1234_1236delCAG c.(1234-1236)del p.Q422del MEF2A_ENST00000449277.2_In_Frame_Del_p.Q352del|MEF2A_ENST00000338042.6_In_Frame_Del_p.Q429del|MEF2A_ENST00000557785.1_In_Frame_Del_p.Q420del|MEF2A_ENST00000453228.2_In_Frame_Del_p.Q420del|MEF2A_ENST00000557942.1_In_Frame_Del_p.Q428del|MEF2A_ENST00000558812.1_In_Frame_Del_p.Q360del NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 430 Gln/Pro-rich. apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) ATCGGGCTTCcagcagcagcagc 0.606 4 5 --- --- --- --- TIMM44 10469 broad.mit.edu 37 19 7997808 7997810 + In_Frame_Del DEL TCG TCG - rs41539862 TCGA-EM-A3AR-01A-12D-A20C-08 TCGA-EM-A3AR-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26896f50-4aff-406e-91d5-d18ada7ae17a 92d7e25d-a9de-49e2-800c-0ab703ae1582 g.chr19:7997808_7997810delTCG ENST00000270538.3 - 8 1045_1047 c.777_779delCGA c.(775-780)ttg>tt p.FE259del NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 259 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 CATCTTCATCTCGAAGAACCCTG 0.581 11 65 --- --- --- ---