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 FAM86DP 0 broad.mit.edu 37 3 75475670 75475670 + RNA SNP A A C rs7430363 by1000genomes TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr3:75475670A>C ENST00000459803.1 - 0 859 NR_024241.1 ACCTCAGGAGACTGCTGGTGC 0.627000 3 33 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959603 16959603 + RNA SNP G G A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr1:16959603G>A ENST00000412962.1 - 0 74 CTGCAGTGACGCCTGCCTCAT 0.602000 3 30 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081132 54081132 + Silent SNP C C T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr2:54081132C>T ENST00000394705.2 - 2 1032 c.762G>A c.(760-762)ggG>ggA p.G254G ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 254 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCACAGGGACCCCCATGAAAG 0.537000 18 38 0 0 1 0 0 OSCP1 127700 broad.mit.edu 37 1 36898067 36898067 + Missense_Mutation SNP T T C rs34409118 byFrequency TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr1:36898067T>C ENST00000356637.5 - 4 484 c.421A>G c.(421-423)Acc>Gcc p.T141A OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 141 T -> A (in dbSNP:rs34409118). transport basal plasma membrane p.T141A(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 TGCAGGATGGTTGGGGAGTCT 0.502000 6 97 0 0 1 0 0 C9orf47 286223 broad.mit.edu 37 9 91606052 91606052 + Missense_Mutation SNP C C G TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr9:91606052C>G ENST00000375851.2 + 1 275 c.142C>G c.(142-144)Ctc>Gtc p.L48V C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V|C9orf47_ENST00000334490.5_Missense_Mutation_p.L48V NM_001001938.3|NM_001142413.1 NP_001001938.1|NP_001135885.1 Q6ZRZ4 CI047_HUMAN chromosome 9 open reading frame 47 48 extracellular region endometrium(1)|large_intestine(1)|liver(1)|lung(1) 4 CCCGCTGGGTCTCTGGGCGCC 0.672000 5 10 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 6 31 0 0 1 0 0 KCNIP1 0 broad.mit.edu 37 5 170148874 170148874 + Missense_Mutation SNP C C A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr5:170148874C>A ENST00000328939.4 + 4 831 c.294C>A c.(292-294)ttC>ttA p.F98L KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000411494.1_Missense_Mutation_p.F109L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L|KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 109 EF-hand 2. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.F109F(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAATGCCTTCGACACCACTC 0.547000 9 125 2.62144e-13 2.77564e-13 1 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 50 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696019 48696019 + Missense_Mutation SNP A A G TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr17:48696019A>G ENST00000352832.5 + 31 5701 c.5329A>G c.(5329-5331)Acc>Gcc p.T1777A CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T1811A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1811 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TCCCCAGGACACCCTCCGGGA 0.562000 4 18 0 0 1 0 0 BPI 671 broad.mit.edu 37 20 36952353 36952353 + Missense_Mutation SNP A A T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr20:36952353A>T ENST00000262865.4 + 8 939 c.850A>T c.(850-852)Atg>Ttg p.M284L BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 284 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) CCATGACCGCATGGTATACCT 0.537000 4 57 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79667546 79667546 + Silent SNP G G A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr17:79667546G>A ENST00000329138.4 + 19 2067 c.1932G>A c.(1930-1932)gcG>gcA p.A644A NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 644 Gln-rich.|Interaction with NF2. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CCACTGGGGCGCAGGCGGCCC 0.657000 4 55 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132535059 132535059 + Missense_Mutation SNP C C T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr5:132535059C>T ENST00000265342.7 - 16 2506 c.2257G>A c.(2257-2259)Gcg>Acg p.A753T CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 753 extracellular region calcium ion binding p.A753T(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCAGAGCCGCGTAGATGTTG 0.572000 29 37 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331756 107331756 + Missense_Mutation SNP T T A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr9:107331756T>A ENST00000335040.1 + 1 308 c.308T>A c.(307-309)aTt>aAt p.I103N NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CAAATGTTTATTTCTTTTGCC 0.488000 6 107 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52758885 52758885 + Missense_Mutation SNP A A G TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr12:52758885A>G ENST00000257901.3 - 2 565 c.490T>C c.(490-492)Tgc>Cgc p.C164R NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 164 Linker 1.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TTGCTCTCGCAGCAGCGCTGG 0.612000 11 71 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946437 16946437 + RNA SNP C C T rs2262202 TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr1:16946437C>T ENST00000412962.1 - 0 1082 AGCCTTCCGCCGGGCCAGCAG 0.672000 5 30 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023143 17023143 + RNA SNP C C T rs559507 by1000genomes TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr1:17023143C>T ENST00000492551.1 - 0 1720 NR_026567.1 TGTGGGGCTCCGGACTGGTAA 0.692000 6 20 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 4 67 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838674 145838674 + Silent SNP A A G rs111879925 TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr5:145838674A>G ENST00000296702.5 + 4 704 c.666A>G c.(664-666)caA>caG p.Q222Q TCERG1_ENST00000394421.2_Silent_p.Q222Q NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 222 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) cccaggcccaagcccaagccc 0.716000 4 25 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38251572 38251572 + Splice_Site SNP C C T rs143207366 TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr22:38251572C>T ENST00000412331.2 + 4 876 c.293_splice c.e4-1 p.S98_splice EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Splice_Site_p.S98_splice NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 98 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGATTTTTAGCTGGACCAAGC 0.428000 3 30 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63491897 63491897 + Missense_Mutation SNP G G A TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr18:63491897G>A ENST00000536984.2 + 6 1505 c.811G>A c.(811-813)Gtc>Atc p.V271I CDH7_ENST00000397968.2_Missense_Mutation_p.V271I|CDH7_ENST00000323011.3_Missense_Mutation_p.V271I Q9ULB5 CADH7_HUMAN cadherin 7, type 2 271 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TCAATATAACGTCCCAGAGTC 0.373000 8 52 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644878 169644878 + Silent SNP C C T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr3:169644878C>T ENST00000428432.2 + 6 1217 c.828C>T c.(826-828)gaC>gaT p.D276D SAMD7_ENST00000335556.3_Silent_p.D276D NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 276 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGGCCTGGGACGATGGGAAAG 0.562000 33 42 0 0 1 0 0 SRPR 6734 broad.mit.edu 37 11 126137086 126137087 + Frame_Shift_Ins INS - - T TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr11:126137086_126137087insT ENST00000332118.6 - 4 663_664 c.509_510insA c.(508-510)aggfs p.R170fs SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R142fs NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 170 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding p.K170fs*33(2)|p.K170K(1) endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCTTGGCCCCCTTTTTTTTGCT 0.436 7 258 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-DE-A4M9-01A-11D-A257-08 TCGA-DE-A4M9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0eb322a-040f-449c-ade7-c49fe4dc17d5 5b8e33ea-371d-4c4c-ad22-a42de593539b g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 5 --- --- --- ---