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 SIGLEC10 89790 broad.mit.edu 37 19 51919218 51919218 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:51919218G>A ENST00000353836.5 - 5 1179 c.958C>T c.(958-960)Cgc>Tgc p.R320C SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R237C|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R320C|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R320C|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R262C|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R262C|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R272C NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 320 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CAGGTGTAGCGCCCTGAATCC 0.667000 16 100 0 0 1 0 0 TBCC 6903 broad.mit.edu 37 6 42713313 42713313 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr6:42713313C>A ENST00000244625.2 - 2 1062 c.499G>T c.(499-501)Gac>Tac p.D167Y TBCC_ENST00000372876.1_Missense_Mutation_p.D167Y Q15814 TBCC_HUMAN tubulin folding cofactor C 167 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) AGCGGGGAGTCCTGTATGCTT 0.597000 4 10 0.00116845 0.00135746 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52394425 52394425 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr3:52394425C>T ENST00000420323.2 + 28 4931 c.4670C>T c.(4669-4671)aCg>aTg p.T1557M NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1557 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGGTGATCACGCCCCTCACC 0.542000 9 27 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225727416 225727416 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr2:225727416C>A ENST00000409592.3 - 14 1745 c.1632G>T c.(1630-1632)ttG>ttT p.L544F DOCK10_ENST00000258390.7_Missense_Mutation_p.L550F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 550 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GGTATTTTCCCAATTTGCTGC 0.338000 3 17 0.00909568 0.0101205 1 1 0 CDH9 1007 broad.mit.edu 37 5 26881671 26881671 + Silent SNP T T A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:26881671T>A ENST00000231021.4 - 12 2116 c.1944A>T c.(1942-1944)tcA>tcT p.S648S NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 648 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CATCGTCTTTTGAAATTATCA 0.408000 44 61 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2123820 2123820 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr9:2123820C>T ENST00000382203.1 + 27 4073 c.3864C>T c.(3862-3864)gaC>gaT p.D1288D SMARCA2_ENST00000382194.1_Silent_p.D1288D|SMARCA2_ENST00000349721.2_Silent_p.D1288D|SMARCA2_ENST00000357248.2_Silent_p.D1288D P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1288 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TTAAGGATGACGCTGAAGTAG 0.582000 7 11 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45717984 45717984 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr20:45717984C>A ENST00000327619.5 + 8 1142 c.768C>A c.(766-768)agC>agA p.S256R EYA2_ENST00000357410.3_Missense_Mutation_p.S256R|EYA2_ENST00000317304.6_Missense_Mutation_p.S256R NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 256 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CTAAGAGGAGCAGTGACCCGT 0.577000 11 170 5.50884e-06 6.69536e-06 1 1 0 BCAS3 54828 broad.mit.edu 37 17 59469431 59469431 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr17:59469431C>T ENST00000588462.1 + 25 2798 c.2798C>T c.(2797-2799)cCg>cTg p.P933L RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Missense_Mutation_p.P896L|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000390652.5_Missense_Mutation_p.P911L|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000588874.1_Missense_Mutation_p.P667L|BCAS3_ENST00000585744.1_Missense_Mutation_p.P682L|BCAS3_ENST00000408905.3_Missense_Mutation_p.P918L Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 911 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TACCGATCTCCGCTGCCCACC 0.597000 14 55 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61895495 61895495 + Missense_Mutation SNP C C G TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr17:61895495C>G ENST00000578681.1 + 19 3155 c.2554C>G c.(2554-2556)Cgt>Ggt p.R852G DDX42_ENST00000457800.2_Missense_Mutation_p.R852G|DDX42_ENST00000389924.2_Missense_Mutation_p.R852G|DDX42_ENST00000359353.5_Missense_Mutation_p.R733G|DDX42_ENST00000583590.1_Missense_Mutation_p.R852G|DDX42_ENST00000582985.1_Intron NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 852 Gly-rich.|His-rich. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AAGCAGCAGCCGTCATACTGA 0.587000 5 75 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 4 36 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3229173 3229173 + Missense_Mutation SNP C C G TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chrX:3229173C>G ENST00000217939.6 - 7 7225 c.7071G>C c.(7069-7071)caG>caC p.Q2357H NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2357 Ig-like C2-type 8. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATAGGGCACCTGAACCGCCA 0.562000 21 36 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160225119 160225119 + Splice_Site SNP A A T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr6:160225119A>T ENST00000275275.5 + 5 509 c.339_splice c.e5+1 p.K113_splice PNLDC1_ENST00000392167.3_Splice_Site_p.K124_splice NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 113 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AACTATAACAAGGTATGGCAT 0.463000 36 60 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 39 0 0 1 0 0 RAB2A 5862 broad.mit.edu 37 8 61533286 61533286 + Missense_Mutation SNP A A T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr8:61533286A>T ENST00000529579.1 + 7 512 c.485A>T c.(484-486)cAg>cTg p.Q162L RAB2A_ENST00000262646.7_Silent_p.A199A|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Silent_p.A175A P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 69 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) CAACACATGCAGGCAATCAGG 0.473000 22 53 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221613 59221613 + Silent SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr18:59221613G>A ENST00000262717.4 + 12 2489 c.2091G>A c.(2089-2091)acG>acA p.T697T CDH20_ENST00000536675.2_Silent_p.T697T|CDH20_ENST00000538374.1_Silent_p.T697T Q9HBT6 CAD20_HUMAN cadherin 20, type 2 697 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CCCCCAAGACGCGGCAGGACA 0.692000 6 59 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G C TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr9:41962602G>C ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 9 27 0 0 1 0 0 BAX 581 broad.mit.edu 37 19 49459546 49459546 + Missense_Mutation SNP C C G TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:49459546C>G ENST00000293288.8 + 4 325 c.325C>G c.(325-327)Cgg>Ggg p.R109G BAX_ENST00000415969.2_Missense_Mutation_p.R109G|BAX_ENST00000345358.7_Missense_Mutation_p.R109G|BAX_ENST00000539787.1_Missense_Mutation_p.R109G|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.R60G NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 109 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) CAACTGGGGCCGGGTTGTCGC 0.592000 33 71 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136687522 136687522 + Missense_Mutation SNP C C T rs148369326 TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr6:136687522C>T ENST00000354570.3 - 9 1342 c.932G>A c.(931-933)cGa>cAa p.R311Q MAP7_ENST00000432797.2_Missense_Mutation_p.R165Q|MAP7_ENST00000454590.1_Missense_Mutation_p.R333Q|MAP7_ENST00000544465.1_Missense_Mutation_p.R296Q|MAP7_ENST00000438100.2_Missense_Mutation_p.R296Q NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 311 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TACAGCCCTTCGGGTGCCAGA 0.428000 14 38 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30897813 30897813 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr20:30897813G>A ENST00000375712.3 + 2 400 c.233G>A c.(232-234)cGa>cAa p.R78Q NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 78 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGACGTTCCGACCACTTGTT 0.488000 10 47 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79092661 79092661 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr15:79092661G>A ENST00000388820.4 - 2 539 c.329C>T c.(328-330)aCg>aTg p.T110M ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 110 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 gcgccgccgcgTCTCGCTCAC 0.726000 6 8 0 0 1 0 0 GLT1D1 144423 broad.mit.edu 37 12 129431953 129431953 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr12:129431953G>A ENST00000442111.2 + 10 818 c.730G>A c.(730-732)Gcg>Acg p.A244T GLT1D1_ENST00000542193.1_Missense_Mutation_p.A161T|GLT1D1_ENST00000281703.6_Missense_Mutation_p.A164T|GLT1D1_ENST00000537468.1_Missense_Mutation_p.A249T Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 244 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GAATTGCTTCGCGGTGGTGAA 0.483000 20 29 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73444901 73444901 + Silent SNP T T C TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr14:73444901T>C ENST00000556143.1 - 7 2181 c.1461A>G c.(1459-1461)aaA>aaG p.K487K ZFYVE1_ENST00000555072.1_Silent_p.K72K|ZFYVE1_ENST00000554145.1_Intron|ZFYVE1_ENST00000394207.2_Silent_p.K72K|ZFYVE1_ENST00000318876.5_Silent_p.K487K|ZFYVE1_ENST00000553891.1_Silent_p.K487K NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 487 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AAGCAGATGTTTTGGGCACTA 0.448000 11 71 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56480333 56480333 + Silent SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr6:56480333G>A ENST00000370765.6 - 24 8039 c.7932C>T c.(7930-7932)agC>agT p.S2644S DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 0 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AATAGTAGAGGCTAGAAATTC 0.398000 12 19 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581228 7581228 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr6:7581228G>A ENST00000379802.3 + 23 5146 c.4805G>A c.(4804-4806)aGg>aAg p.R1602K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1602 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAGGCATGAGGAGGTCGCTG 0.552000 9 36 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28913342 28913342 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr16:28913342C>T ENST00000395503.4 + 16 2443 c.2259C>T c.(2257-2259)atC>atT p.I753I ATP2A1_ENST00000536376.1_Silent_p.I628I|ATP2A1_ENST00000357084.3_Silent_p.I753I NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 753 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GCCGCGCCATCTACAACAACA 0.607000 14 40 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563328 140563328 + Missense_Mutation SNP G G T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:140563328G>T ENST00000361016.2 + 1 2349 c.1194G>T c.(1192-1194)aaG>aaT p.K398N NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 398 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCAGTCAAGAACTTTTACA 0.463000 12 49 2.27111e-07 2.8479e-07 1 1 0 PAPLN 89932 broad.mit.edu 37 14 73721320 73721320 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr14:73721320C>T ENST00000427855.1 + 13 1504 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W PAPLN_ENST00000381166.3_Missense_Mutation_p.R468W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R441W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R468W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R468W O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 468 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CTTGGAAGACCGGCCACCTCT 0.617000 20 100 0 0 1 0 0 CORO1C 23603 broad.mit.edu 37 12 109052654 109052654 + Nonsense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr12:109052654C>A ENST00000261401.3 - 5 662 c.490G>T c.(490-492)Gaa>Taa p.E164* CORO1C_ENST00000541050.1_Nonsense_Mutation_p.E164*|CORO1C_ENST00000549772.1_Nonsense_Mutation_p.E170*|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000421578.2_Nonsense_Mutation_p.E59*|CORO1C_ENST00000420959.2_Nonsense_Mutation_p.E217* NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C 164 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 ATAAGGGCTTCCCCTGTTCCC 0.418000 12 90 0.00136819 0.00156648 1 1 0 SLC5A4 6527 broad.mit.edu 37 22 32630895 32630895 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr22:32630895G>A ENST00000266086.4 - 8 861 c.850C>T c.(850-852)Ccc>Tcc p.P284S RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 284 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GCTGTAATGGGCATTCCAAAT 0.473000 26 102 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24632699 24632699 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr14:24632699C>T ENST00000396864.3 + 4 764 c.477C>T c.(475-477)ctC>ctT p.L159L IRF9_ENST00000557894.1_Silent_p.L57L|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 159 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) CCTCTGTGCTCCAGGACTCCC 0.532000 31 77 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72008719 72008719 + Splice_Site SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr12:72008719C>T ENST00000378743.3 - 29 5614 c.e29-1 NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATGACAAAGGCTGTTTAAAAA 0.338000 25 52 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968587 69968587 + Missense_Mutation SNP T T G TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr12:69968587T>G ENST00000299293.2 + 10 1889 c.1379T>G c.(1378-1380)cTt>cGt p.L460R FRS2_ENST00000549921.1_Missense_Mutation_p.L460R|FRS2_ENST00000397997.2_Missense_Mutation_p.L460R|FRS2_ENST00000550389.1_Missense_Mutation_p.L460R NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 460 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) ACAACTCCCCTTCCACAAACC 0.488000 27 59 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209358033 209358033 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr2:209358033C>T ENST00000272847.2 + 13 1515 c.1302C>T c.(1300-1302)tcC>tcT p.S434S AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 434 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GGAACCTCTCCGTGGACTGGA 0.587000 8 41 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432689 55432689 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr11:55432689C>A ENST00000314259.3 + 1 76 c.47C>A c.(46-48)aCa>aAa p.T16K NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTGGGTCTCACAGAGAACCTG 0.378000 7 82 1.06961e-07 1.36289e-07 1 1 0 SEC23A 10484 broad.mit.edu 37 14 39565214 39565214 + Missense_Mutation SNP G G A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr14:39565214G>A ENST00000307712.6 - 2 626 c.109C>T c.(109-111)Cct>Tct p.P37S SEC23A_ENST00000553970.1_Missense_Mutation_p.P37S|SEC23A_ENST00000548032.2_Missense_Mutation_p.P37S|SEC23A_ENST00000545328.2_Missense_Mutation_p.P37S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000557280.1_Missense_Mutation_p.P37S NM_006364.2 NP_006355.2 Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 37 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GCTGCCACAGGAACAACCATT 0.433000 34 51 0 0 1 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15026555 15026555 + Silent SNP T T C TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chrY:15026555T>C ENST00000336079.3 + 8 859 c.753T>C c.(751-753)gcT>gcC p.A251A DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Silent_p.A251A NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 251 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CTTTGAAGGCTGTGAAGGTAA 0.373000 21 9 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39034067 39034067 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:39034067C>T ENST00000355481.4 + 84 11886 c.11755C>T c.(11755-11757)Cgg>Tgg p.R3919W RYR1_ENST00000360985.3_Missense_Mutation_p.R3919W|RYR1_ENST00000359596.3_Missense_Mutation_p.R3924W NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3924 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTACCTCCTGCGGCTGCAGGT 0.582000 41 58 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191812 66191812 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr11:66191812C>A ENST00000311034.2 + 7 1627 c.1451C>A c.(1450-1452)cCa>cAa p.P484Q NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 484 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTAACTAGCCCACTGCAAGGC 0.557000 55 220 1.38909e-20 1.82897e-20 1 1 0 LAMB3 3914 broad.mit.edu 37 1 209788688 209788688 + Silent SNP T T A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr1:209788688T>A ENST00000391911.1 - 22 3836 c.3447A>T c.(3445-3447)ggA>ggT p.G1149G LAMB3_ENST00000356082.4_Silent_p.G1149G|LAMB3_ENST00000367030.3_Silent_p.G1149G NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1149 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCTTCTCCAGTCCTGTCAGGT 0.602000 29 67 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96503202 96503202 + Missense_Mutation SNP A A G TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:96503202A>G ENST00000283109.3 - 8 1434 c.1366T>C c.(1366-1368)Tcg>Ccg p.S456P RIOK2_ENST00000508447.1_Missense_Mutation_p.S456P|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 456 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TTTAATGACGACAAGGCAATT 0.393000 17 55 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 43 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45547949 45547949 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr21:45547949C>T ENST00000291576.7 + 18 2404 c.2277C>T c.(2275-2277)ttC>ttT p.F759F PWP2_ENST00000494310.1_3'UTR NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 759 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) AGCAGGACTTCACCAGGGCCA 0.662000 15 35 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49073856 49073856 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr13:49073856C>T ENST00000344532.3 - 13 1708 c.1285G>A c.(1285-1287)Gat>Aat p.D429N RCBTB2_ENST00000544492.1_Missense_Mutation_p.D155N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D434N NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 429 BTB 1. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TCTACAATATCATCCTCGTTA 0.458000 19 22 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170322 113170322 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr9:113170322C>T ENST00000401783.2 - 38 7894 c.7558G>A c.(7558-7560)Gtt>Att p.V2520I SVEP1_ENST00000374469.1_Missense_Mutation_p.V2497I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V446I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2520 Sushi 19. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GAGTAGGTAACGGTCTGTCCA 0.488000 5 23 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77425756 77425756 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr15:77425756C>T ENST00000560626.2 - 6 4143 c.3668G>A c.(3667-3669)cGc>cAc p.R1223H PEAK1_ENST00000312493.4_Missense_Mutation_p.R1223H Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1223 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding TCTCTCCTTGCGCAAAGGCCT 0.493000 8 41 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629554 9629554 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:9629554C>A ENST00000382492.2 - 1 909 c.591G>T c.(589-591)ttG>ttT p.L197F CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 197 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 GAGAGAAAATCAAGAGCAAAA 0.488000 16 35 0.000566183 0.000667589 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33662112 33662112 + Missense_Mutation SNP T T C TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:33662112T>C ENST00000504830.1 - 6 1284 c.949A>G c.(949-951)Aca>Gca p.T317A ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T317A|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 317 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTAGACAGTGTCTTTTCTGCA 0.488000 HNSCC(64;0.19) 22 48 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20403985 20403985 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr14:20403985C>A ENST00000285600.4 + 1 219 c.160C>A c.(160-162)Cat>Aat p.H54N NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTTTGACTCCCATTTGAACTC 0.363000 24 131 6.36457e-07 7.85627e-07 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18043893 18043893 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr17:18043893C>T ENST00000205890.5 + 20 5612 c.5274C>T c.(5272-5274)agC>agT p.S1758S MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1758 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGGGCAAGAGCAGCTCCGTCA 0.652000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 60 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640389 57640389 + Missense_Mutation SNP G G T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:57640389G>T ENST00000254181.4 + 4 800 c.346G>T c.(346-348)Gat>Tat p.D116Y USP29_ENST00000598197.1_Missense_Mutation_p.D116Y NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 116 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCTGATGATGATTGGAGTGT 0.353000 5 52 1 1 1 1 0 DNAH3 55567 broad.mit.edu 37 16 20970610 20970610 + Missense_Mutation SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr16:20970610C>T ENST00000261383.3 - 54 10716 c.10717G>A c.(10717-10719)Ggg>Agg p.G3573R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3573 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACCCAGGTCCCGTCTTTGATG 0.527000 15 122 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72742687 72742687 + Nonsense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr7:72742687C>A ENST00000252037.4 + 2 236 c.167C>A c.(166-168)tCg>tAg p.S56* FKBP6_ENST00000413573.2_Nonsense_Mutation_p.S56*|FKBP6_ENST00000431982.2_Nonsense_Mutation_p.S51* NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 56 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CCTGATGCTTCGGTGCTAGGT 0.572000 8 44 0.000157383 0.000188383 1 1 0 SLC36A1 206358 broad.mit.edu 37 5 150856269 150856269 + Missense_Mutation SNP T T A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:150856269T>A ENST00000243389.3 + 9 1164 c.941T>A c.(940-942)tTt>tAt p.F314Y SLC36A1_ENST00000520701.1_Missense_Mutation_p.F314Y|SLC36A1_ENST00000521925.1_Missense_Mutation_p.F314Y NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 314 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TACCTGCAATTTGGAGCTAAT 0.498000 9 35 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342643 122342643 + Silent SNP C C T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr7:122342643C>T ENST00000434824.1 - 1 378 c.162G>A c.(160-162)tcG>tcA p.S54S CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 54 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 CTCCTAATTCCGATGTGATCT 0.443000 5 31 0 0 1 0 0 JUNB 3726 broad.mit.edu 37 19 12902749 12902749 + Missense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:12902749C>A ENST00000302754.4 + 1 440 c.164C>A c.(163-165)gCt>gAt p.A55D NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 55 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 GCGCCTGGGGCTCGCGGACCC 0.672000 5 14 0.014758 0.0157552 1 1 0 EGFR 1956 broad.mit.edu 37 7 55214348 55214348 + Silent SNP C C T rs2072454 byFrequency TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr7:55214348C>T ENST00000275493.2 + 4 651 c.474C>T c.(472-474)aaC>aaT p.N158N EGFR_ENST00000344576.2_Silent_p.N158N|EGFR_ENST00000454757.2_Silent_p.N105N|EGFR_ENST00000442591.1_Silent_p.N158N|EGFR_ENST00000420316.2_Silent_p.N158N|EGFR_ENST00000342916.3_Silent_p.N158N|EGFR_ENST00000455089.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 158 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.N158N(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCCTGTGCAACGTGGAGAGCA 0.547000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 3 30 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204691 9204691 + Silent SNP C C T rs140970574 by1000genomes TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:9204691C>T ENST00000429566.3 + 1 837 c.771C>T c.(769-771)ggC>ggT p.G257G NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCACCATTGGCGTCTATCTGT 0.557000 24 109 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167675295 167675295 + Nonsense_Mutation SNP G G T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:167675295G>T ENST00000519204.1 + 26 7106 c.6988G>T c.(6988-6990)Gag>Tag p.E2330* TENM2_ENST00000520394.1_Nonsense_Mutation_p.E2212*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.E2450*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.E2275*|TENM2_ENST00000518659.1_Nonsense_Mutation_p.E2451* teneurin transmembrane protein 2 CGTGGGCAAGGAGCCGGCCCC 0.517000 7 34 0.0381472 0.039653 1 1 0 AHDC1 27245 broad.mit.edu 37 1 27876516 27876517 + Frame_Shift_Ins INS - - C TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr1:27876516_27876517insC ENST00000374011.2 - 6 3078_3079 c.2110_2111insG c.(2110-2112)ggtfs p.G704fs AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.G704fs|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 704 Gly-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CACGGCCACCACCTTCTTTTTC 0.658 11 32 --- --- --- --- SLC12A2 6558 broad.mit.edu 37 5 127477568 127477578 + Frame_Shift_Del DEL CGTAACAGAGC CGTAACAGAGC - rs111727169 byFrequency TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr5:127477568_127477578delCGTAACAGAGC ENST00000262461.2 + 10 1857_1867 c.1668_1678delCGTAACAGAGC c.(1666-1680)attafs p.IVTEL556fs SLC12A2_ENST00000343225.4_Frame_Shift_Del_p.IVTEL556fs NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 556 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity p.I556I(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATGACACTATCGTAACAGAGCTAACAAACTG 0.374 17 54 --- --- --- --- MAGI2 9863 broad.mit.edu 37 7 79082367 79082368 + Frame_Shift_Ins INS - - T TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr7:79082367_79082368insT ENST00000354212.4 - 1 522_523 c.269_270insA c.(268-270)agafs p.R90fs MAGI2_ENST00000522391.1_Frame_Shift_Ins_p.R90fs|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000419488.1_Frame_Shift_Ins_p.R90fs NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 90 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGAGGGGGTCCTTGCAGTGTTT 0.639 12 46 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 7 136 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 3 6 --- --- --- --- ERBB2 2064 broad.mit.edu 37 17 37880981 37880982 + In_Frame_Ins INS - - GCATACGTGATG TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr17:37880981_37880982insGCATACGTGATG ENST00000406381.2 + 22 2730_2731 c.2220_2221insGCATACGTGATG c.(2218-2223)gacata>gaGCATACGTGATGcata p.740_740D>EHT*C ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 770 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GTCCCCAGGAAGCATACGTGAT 0.594 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 9 66 --- --- --- --- C19orf12 83636 broad.mit.edu 37 19 30193879 30193879 + Frame_Shift_Del DEL C C - TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr19:30193879delC ENST00000323670.9 - 3 305 c.166delG c.(166-168)ctfs p.A56fs C19orf12_ENST00000392278.2_Frame_Shift_Del_p.A67fs|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000592153.1_Frame_Shift_Del_p.A56fs|C19orf12_ENST00000392275.1_5'UTR NM_001256047.1|NM_031448.4 NP_001242976.1|NP_113636.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 56 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) CCCCCGACAGCCCCCCCTAGA 0.527 17 80 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb72eaea-8596-4b3e-a97f-b6e4b16354ca 8bcafdb1-1dff-414d-8757-bfce69701a7e g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 11 210 --- --- --- ---