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 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 54 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 51 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083685 17083685 + RNA SNP C C A rs3197973 by1000genomes TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr1:17083685C>A ENST00000455405.2 - 0 903 ACTGTACTTACAAGTTTTGTC 0.403000 4 21 0.00198382 0.00198382 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 29 0 0 1 0 0 NASP 4678 broad.mit.edu 37 1 46073584 46073584 + Missense_Mutation SNP T T G TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr1:46073584T>G ENST00000350030.3 + 6 1088 c.1001T>G c.(1000-1002)gTa>gGa p.V334G NASP_ENST00000402363.3_Missense_Mutation_p.V336G|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V270G NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 334 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GAACAACTGGTAGGTCAAGAA 0.542000 3 41 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089358 113089358 + Missense_Mutation SNP G G A TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr2:113089358G>A ENST00000409871.1 + 12 3264 c.2863G>A c.(2863-2865)Ggt>Agt p.G955S ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 955 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 AGACTCACACGGTTCAGGAGC 0.393000 3 25 0 0 1 0 0 SSTR3 6753 broad.mit.edu 37 22 37602845 37602845 + Missense_Mutation SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr22:37602845C>T ENST00000328544.3 - 2 1531 c.998G>A c.(997-999)cGc>cAc p.R333H SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 333 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity p.R333H(1) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GCGCACACGGCGGGAGGGCCG 0.667000 5 43 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45288335 45288335 + Nonsense_Mutation SNP G G A TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr1:45288335G>A ENST00000447098.2 - 22 3375 c.3364C>T c.(3364-3366)Cag>Tag p.Q1122* PTCH2_ENST00000372192.3_Nonsense_Mutation_p.Q1122* NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 1122 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TTGTACATCTGTATCACCTGT 0.622000 Basal Cell Nevus syndrome 4 82 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 89 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89392753 89392753 + RNA SNP A A C TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr11:89392753A>C ENST00000532352.1 + 0 576 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTCTCTACTCAGACCCTGCTG 0.453000 3 27 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66475224 66475224 + Silent SNP C C T rs145249947 byFrequency TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr11:66475224C>T ENST00000533211.1 - 13 1747 c.1416G>A c.(1414-1416)acG>acA p.T472T SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 472 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCACGATGTCCGTCTCAATGG 0.672000 5 67 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47712201 47712201 + Nonsense_Mutation SNP C C T TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr11:47712201C>T ENST00000525123.1 - 10 1343 c.1058G>A c.(1057-1059)tGg>tAg p.W353* AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353*|AGBL2_ENST00000528244.1_Nonsense_Mutation_p.W315*|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353* NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 353 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TTCTCTCCTCCAGCCAATATT 0.453000 22 20 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 5 8 --- --- --- --- ESRRAP2 144832 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 2 4 --- --- --- --- PABPN1 8106 broad.mit.edu 37 14 23791016 23791016 + Frame_Shift_Del DEL C C - TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr14:23791016delC ENST00000397276.2 + 1 351 c.338delC c.(337-339)gcfs p.A113fs BCL2L2-PABPN1_ENST00000557008.1_Intron|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.W34fs|PABPN1_ENST00000216727.4_Frame_Shift_Del_p.A113fs|BCL2L2-PABPN1_ENST00000553781.1_Intron|PABPN1_ENST00000556821.1_5'UTR poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) GGGGACGGCGCCATTGAGGAC 0.771 2 4 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 4 5 --- --- --- --- HOMER3 9454 broad.mit.edu 37 19 19042905 19042906 + Frame_Shift_Del DEL GA GA - rs80104014 byFrequency TCGA-QR-A703-01A-11D-A35D-08 TCGA-QR-A703-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d9bdbe4-49c3-4010-8e42-8673307e02c7 eed74c07-ea35-4095-becc-cd65cd2f1f25 g.chr19:19042905_19042906delGA ENST00000539827.1 - 6 1221_1222 c.569_570delTC c.(568-570)tfs p.F190fs HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs Q9NSC5 HOME3_HUMAN homer homolog 3 (Drosophila) 190 metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) CCTGCAGTGCGAAAAACTCGGC 0.688 2 4 --- --- --- ---