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 SIGLEC9 27180 broad.mit.edu 37 19 51628487 51628487 + Missense_Mutation SNP G G A TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr19:51628487G>A ENST00000440804.3 + 1 323 c.256G>A c.(256-258)Gag>Aag p.E86K SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E86K NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 86 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGTGTGGGAGGAGACTCGGGA 0.572000 5 80 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 40 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823569 70823569 + Missense_Mutation SNP G G C TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chrX:70823569G>C ENST00000373695.1 + 7 979 c.442G>C c.(442-444)Gct>Cct p.A148P ACRC_ENST00000373696.3_Missense_Mutation_p.A148P Q96QF7 ACRC_HUMAN acidic repeat containing 148 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TGATTCAGAAGCTCCCGACGA 0.483000 8 256 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1241771 1241771 + Silent SNP G G A TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr2:1241771G>A ENST00000308624.5 + 10 960 c.831G>A c.(829-831)agG>agA p.R277R SNTG2_ENST00000407292.1_Silent_p.R150R NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 277 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCAACATCAGGGAGCTGACAC 0.537000 7 6 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30677312 30677312 + Missense_Mutation SNP G G A TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr17:30677312G>A ENST00000394670.4 + 1 177 c.8G>A c.(7-9)cGc>cAc p.R3H ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R3H|ZNF207_ENST00000342555.6_5'UTR|RP11-227G15.3_ENST00000581915.1_RNA NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 3 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GTTATGGGTCGCAAGAAGAAG 0.537000 6 143 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 103 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96523162 96523162 + Silent SNP G G T TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr2:96523162G>T ENST00000456556.1 - 62 4059 c.3975C>A c.(3973-3975)atC>atA p.I1325I ANKRD36C_ENST00000420871.2_Silent_p.I576I|ANKRD36C_ENST00000419039.2_Silent_p.I352I ankyrin repeat domain 36C p.I1325I(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GCTCTTCTGTGATTCTTAACT 0.343000 4 6 0.00909568 0.00974537 1 1 0 GNA12 2768 broad.mit.edu 37 7 2771272 2771272 + Missense_Mutation SNP C C T TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr7:2771272C>T ENST00000275364.3 - 4 851 c.689G>A c.(688-690)gGc>gAc p.G230D GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Missense_Mutation_p.G82D|GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|GNA12_ENST00000407904.3_Missense_Mutation_p.G171D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 230 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GGACCGCTGGCCGCCCACATC 0.542000 4 125 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 7 17 --- --- --- --- SUDS3P1 285647 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-S7-A7WO-01A-11D-A35I-08 TCGA-S7-A7WO-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 751155ce-fde0-4b45-95ed-cdc7ff67e7e7 6b372fa4-36b7-4afc-a858-6e48fbea228c g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 2 4 --- --- --- ---