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 LCN1 3933 broad.mit.edu 37 9 138415819 138415819 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr9:138415819G>A ENST00000263598.2 + 4 446 c.386G>A c.(385-387)cGa>cAa p.R129Q LCN1_ENST00000371781.3_Missense_Mutation_p.R129Q NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 129 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AAGCCGGTCCGAGGGGTGAAG 0.642000 29 32 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119151 3119151 + Silent SNP T T C TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr17:3119151T>C ENST00000304094.1 + 1 237 c.237T>C c.(235-237)ccT>ccC p.P79P NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TAACCATCCCTAAGATGCTGG 0.478000 4 133 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 6805637 6805637 + Nonsense_Mutation SNP T T G TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr9:6805637T>G ENST00000381309.3 + 3 748 c.183T>G c.(181-183)taT>taG p.Y61* KDM4C_ENST00000381306.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000401787.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.Y83*|KDM4C_ENST00000536108.1_De_novo_Start_OutOfFrame|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000442236.2_Intron NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 61 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 GACAGTGCTATGATGACATTG 0.368000 30 34 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361447 105361447 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr8:105361447G>A ENST00000297581.2 + 2 716 c.667G>A c.(667-669)Gtc>Atc p.V223I DCSTAMP_ENST00000517991.1_Missense_Mutation_p.V223I|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 223 osteoclast differentiation cell surface|integral to membrane|plasma membrane GCTTTCGCTCGTCCTGCTTGG 0.498000 5 108 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 7 188 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113364708 113364708 + Silent SNP A A G TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr8:113364708A>G ENST00000297405.5 - 39 6436 c.6192T>C c.(6190-6192)atT>atC p.I2064I CSMD3_ENST00000343508.3_Silent_p.I2024I|CSMD3_ENST00000455883.2_Silent_p.I1960I|CSMD3_ENST00000352409.3_Silent_p.I1994I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2064 Sushi 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATCTGTCTCCAATTTTAATTC 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 32 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15564503 15564503 + Missense_Mutation SNP G G A rs144830164 TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr2:15564503G>A ENST00000281513.5 - 23 2538 c.2513C>T c.(2512-2514)aCg>aTg p.T838M NBAS_ENST00000441750.1_Missense_Mutation_p.T838M NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 838 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CTTCTCCACCGTAAGCTGGGT 0.478000 25 26 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152483595 152483595 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr2:152483595G>A ENST00000397345.3 - 70 10470 c.10268C>T c.(10267-10269)cCg>cTg p.P3423L NEB_ENST00000603639.1_Missense_Mutation_p.P3423L|NEB_ENST00000604864.1_Missense_Mutation_p.P3423L|NEB_ENST00000427231.2_Missense_Mutation_p.P3423L|NEB_ENST00000172853.10_Missense_Mutation_p.P3180L|NEB_ENST00000409198.1_Missense_Mutation_p.P3180L NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3423 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGCTTGTCCGGAGGCTGGCG 0.502000 4 103 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229764 87229764 + Missense_Mutation SNP T T G TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr8:87229764T>G ENST00000297524.3 - 3 1217 c.1114A>C c.(1114-1116)Ata>Cta p.I372L SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363L NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 372 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ATTAATAATATAGACCATAAT 0.323000 16 20 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5771549 5771549 + Missense_Mutation SNP C C T TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr6:5771549C>T ENST00000324331.6 + 7 1579 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C FARS2_ENST00000274680.4_Missense_Mutation_p.R415C O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 415 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) CCACTGCTACCGCATCACGTA 0.592000 28 36 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61527924 61527924 + Silent SNP C C T TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr20:61527924C>T ENST00000266070.4 - 7 2338 c.2013G>A c.(2011-2013)cgG>cgA p.R671R DIDO1_ENST00000395343.1_Silent_p.R671R|DIDO1_ENST00000395340.1_Silent_p.R671R|DIDO1_ENST00000395335.2_Silent_p.R671R NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 671 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGATATTTTGCCGAATTTGTG 0.478000 4 167 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58014090 58014090 + Silent SNP C C T TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr12:58014090C>T ENST00000379218.2 + 1 398 c.87C>T c.(85-87)tcC>tcT p.S29S SLC26A10_ENST00000320442.4_Silent_p.S29S Q8NG04 S2610_HUMAN solute carrier family 26, member 10 29 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) AGGCCCCCTCCCCACAGCACA 0.547000 8 518 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43506078 43506078 + Missense_Mutation SNP T T C TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr5:43506078T>C ENST00000306862.2 - 4 1079 c.704A>G c.(703-705)tAc>tGc p.Y235C RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 235 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) GACCCATGTGTATACACATGT 0.413000 54 70 0 0 1 0 0 CIB2 10518 broad.mit.edu 37 15 78401696 78401696 + Missense_Mutation SNP G G A rs147498144 TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr15:78401696G>A ENST00000258930.3 - 4 555 c.227C>T c.(226-228)gCg>gTg p.A76V CIB2_ENST00000557846.1_Missense_Mutation_p.A27V|CIB2_ENST00000539011.1_Missense_Mutation_p.A33V|CIB2_ENST00000560618.1_Missense_Mutation_p.A33V NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 76 EF-hand 1. calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 GGAAAACGCCGCCACGATCCT 0.552000 12 59 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36260899 36260899 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr6:36260899G>A ENST00000394571.2 + 3 500 c.500G>A c.(499-501)gGt>gAt p.G167D PNPLA1_ENST00000388715.3_Missense_Mutation_p.G72D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G72D NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 167 Patatin. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 ACTTACCGCGGTGTGGTGAGT 0.637000 4 87 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999779 45999779 + Missense_Mutation SNP C C A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr21:45999779C>A ENST00000400372.1 - 1 702 c.677G>T c.(676-678)cGc>cTc p.R226L TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 226 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GCATATGGGGCGGCAGAGGAG 0.682000 7 150 3.09899e-07 3.19583e-07 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 18 27 0 0 1 0 0 KHDC1 80759 broad.mit.edu 37 6 73951385 73951385 + Missense_Mutation SNP C C T TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr6:73951385C>T ENST00000370384.3 - 5 1081 c.581G>A c.(580-582)aGt>aAt p.S194N KHDC1_ENST00000257765.5_Missense_Mutation_p.S121N|RP11-257K9.8_ENST00000423730.3_Intron NM_001251874.1 NP_001238803.1 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 194 integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 TGGTGGCACACTAATGGAGGT 0.537000 4 101 0 0 1 0 0 SLC35A2 7355 broad.mit.edu 37 X 48763802 48763802 + Missense_Mutation SNP A A T TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chrX:48763802A>T ENST00000376521.1 - 3 614 c.293T>A c.(292-294)gTt>gAt p.V98D SLC35A2_ENST00000413561.2_Missense_Mutation_p.V37D|SLC35A2_ENST00000445167.2_Missense_Mutation_p.V98D|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V98D|SLC35A2_ENST00000376515.3_Missense_Mutation_p.V74D|SLC35A2_ENST00000376529.3_Missense_Mutation_p.V98D|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V126D|SLC35A2_ENST00000376512.1_Missense_Mutation_p.V98D NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 98 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 GAGGAAGAGAACCAGGTGCTT 0.552000 18 31 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875533 21875533 + Missense_Mutation SNP T T C TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chrX:21875533T>C ENST00000429584.2 + 1 1429 c.931T>C c.(931-933)Ttt>Ctt p.F311L MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 311 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGAGAAGCCCTTTCAGTGCAC 0.557000 6 497 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 38 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087148 102087148 + Silent SNP G G A rs140584655 TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr7:102087148G>A ENST00000356387.2 + 4 649 c.414G>A c.(412-414)ccG>ccA p.P138P ORAI2_ENST00000473939.1_Silent_p.P138P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.P138P|ORAI2_ENST00000403646.3_Silent_p.P138P NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 138 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GCGAGTCCCCGCATGAGCGCA 0.617000 5 157 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153209006 153209006 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chrX:153209006G>A ENST00000393700.3 - 5 534 c.454C>T c.(454-456)Cgg>Tgg p.R152W RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R152W|RENBP_ENST00000369997.3_Missense_Mutation_p.R138W NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 152 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) ACCTGGTACCGCACTTCCCCT 0.622000 35 32 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799059 42799059 + Missense_Mutation SNP C C T TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr19:42799059C>T ENST00000572681.2 + 21 7329 c.7261C>T c.(7261-7263)Cgc>Tgc p.R2421C CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C Q96RK0 CIC_HUMAN capicua transcriptional repressor 1515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCGTGAGGTGCGCCAGAAGAT 0.632000 """Mis, F, S""" oligodendroglioma 39 7 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35399692 35399692 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr9:35399692G>A ENST00000378495.3 + 35 4277 c.4055G>A c.(4054-4056)tGt>tAt p.C1352Y UNC13B_ENST00000396787.1_Missense_Mutation_p.C1364Y|UNC13B_ENST00000378496.4_Missense_Mutation_p.C1352Y NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1352 MHD2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CCAAAGCAGTGTGCAGTCCTT 0.522000 6 243 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723525 49723525 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr3:49723525G>A ENST00000449682.2 - 9 1478 c.1117C>T c.(1117-1119)Cgg>Tgg p.R373W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 359 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTACAACGCCGGATCTGGTAG 0.687000 3 31 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3134811 3134811 + Missense_Mutation SNP C C G TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr18:3134811C>G ENST00000356443.4 - 16 2554 c.2221G>C c.(2221-2223)Gct>Cct p.A741P MYOM1_ENST00000261606.7_Missense_Mutation_p.A741P|MYOM1_ENST00000400569.3_Missense_Mutation_p.A741P NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 741 Fibronectin type-III 3. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTGCCAGGAGCCTTGGGGATA 0.428000 31 20 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176948214 176948214 + Missense_Mutation SNP C C G TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr2:176948214C>G ENST00000308618.4 - 1 427 c.291G>C c.(289-291)gaG>gaC p.E97D NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 97 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TCTTGCGGCTCTCGGCGGCGG 0.642000 17 47 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478017 79478017 + Missense_Mutation SNP G G A TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr17:79478017G>A ENST00000575842.1 - 4 1346 c.920C>T c.(919-921)cCg>cTg p.P307L ACTG1_ENST00000331925.2_Missense_Mutation_p.P307L|ACTG1_ENST00000575087.1_Missense_Mutation_p.P307L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P307L P63261 ACTG_HUMAN actin, gamma 1 307 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) GGCAATGCCCGGGTACATGGT 0.607000 4 124 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545540 22545558 + Frame_Shift_Del DEL CGAGCGTCTGCGGGGGCCG CGAGCGTCTGCGGGGGCCG - TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG ENST00000424340.1 + 7 1515_1533 c.1236_1254delCGAGCGTCTGCGGGGGCCG c.(1234-1254)gcfs p.AERLRGP412fs NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT 0.562 3 4 --- --- --- --- CNN2 1265 broad.mit.edu 37 19 1026680 1026681 + Frame_Shift_Del DEL AC AC - TCGA-DB-A64R-01A-11D-A29Q-08 TCGA-DB-A64R-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6aabc71-ee6f-4087-935b-bbfc98402bef a23d80d0-edbd-48e9-9e2a-db845766e840 g.chr19:1026680_1026681delAC ENST00000263097.4 + 1 383_384 c.20_21delAC c.(19-21)afs p.N7fs CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.N7fs NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 7 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCAGTTCAACAAGGGCCCCT 0.762 2 4 --- --- --- ---