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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 49 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14761536 14761536 + Missense_Mutation SNP C C T TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr16:14761536C>T ENST00000261658.2 + 8 1482 c.1205C>T c.(1204-1206)aCg>aTg p.T402M BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M|BFAR_ENST00000563082.1_3'UTR NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 402 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 AAAGTATCAACGCAGGGGCTT 0.488000 49 100 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244387 100244387 + Missense_Mutation SNP A A G TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr7:100244387A>G ENST00000160382.5 - 11 1110 c.1004T>C c.(1003-1005)aTt>aCt p.I335T NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 335 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCGAATATCAATGTCACACAT 0.667000 5 49 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153750999 153750999 + Missense_Mutation SNP C C G TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr1:153750999C>G ENST00000271857.2 + 6 2561 c.1801C>G c.(1801-1803)Ccc>Gcc p.P601A SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.P520A Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 520 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AATTCGGGACCCCCAGGGGCA 0.577000 8 104 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130846180 130846180 + Missense_Mutation SNP G G A TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr5:130846180G>A ENST00000509018.1 - 8 837 c.632C>T c.(631-633)aCg>aTg p.T211M RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T211M|FNIP1_ENST00000514667.1_Missense_Mutation_p.T261M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T211M|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T211M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T211M NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 211 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTCACTCTCCGTAGCCTATGA 0.368000 6 75 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163439 32163439 + Silent SNP T T A TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr6:32163439T>A ENST00000375023.3 - 30 5925 c.5787A>T c.(5785-5787)atA>atT p.I1929I NOTCH4_ENST00000443903.2_3'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1929 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TTCCTCGCATTATCGCAGGGT 0.667000 11 89 0 0 1 0 0 RP11-472B18.1 0 broad.mit.edu 37 4 39483038 39483038 + RNA SNP C C T rs16995316 by1000genomes TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr4:39483038C>T ENST00000513652.1 + 0 1045 TCACCTCTGCCGCGCTAGAAA 0.453000 5 55 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374352 113374352 + Silent SNP T T C TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr3:113374352T>C ENST00000316407.4 - 7 6587 c.6177A>G c.(6175-6177)ctA>ctG p.L2059L KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.L2059L NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2059 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AATTTTGTGATAGTGTATGCT 0.418000 5 103 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515257 102515257 + RNA SNP C C T TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr15:102515257C>T ENST00000557932.1 + 0 1103 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CTCCGGTGGCCGGGCCACTCT 0.647000 3 8 0 0 1 0 0 C2orf15 150590 broad.mit.edu 37 2 99767210 99767210 + Silent SNP T T C TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr2:99767210T>C ENST00000302513.2 + 4 927 c.291T>C c.(289-291)acT>acC p.T97T TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Silent_p.T97T NM_144706.2 NP_653307.1 Q8WU43 CB015_HUMAN chromosome 2 open reading frame 15 97 autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1) 6 TTGAAGGGACTGGCACAGGAT 0.388000 10 92 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12785928 12785928 + Missense_Mutation SNP A A G TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr11:12785928A>G ENST00000361905.4 + 3 769 c.104A>G c.(103-105)tAt>tGt p.Y35C TEAD1_ENST00000334310.6_Missense_Mutation_p.Y35C|TEAD1_ENST00000361985.2_Missense_Mutation_p.Y50C|TEAD1_ENST00000527636.1_Missense_Mutation_p.Y50C|TEAD1_ENST00000527575.1_Missense_Mutation_p.Y50C NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 50 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CTGGCTATCTATCCACCATGT 0.478000 11 92 0 0 1 0 0 ADPGK 83440 broad.mit.edu 37 15 73044692 73044692 + Missense_Mutation SNP G G A TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr15:73044692G>A ENST00000311669.8 - 7 1574 c.1481C>T c.(1480-1482)cCt>cTt p.P494L ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 495 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 CTAATAGTGAGGGTGTACTTC 0.433000 15 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 33 50 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185327074 185327074 + Silent SNP T T C TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr3:185327074T>C ENST00000296257.5 + 7 898 c.658T>C c.(658-660)Ttg>Ctg p.L220L SENP2_ENST00000545472.1_Silent_p.L210L|SENP2_ENST00000427465.2_Silent_p.L44L NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 220 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CCGAAAGTTATTGGAACGACT 0.358000 35 55 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72340946 72340946 + Missense_Mutation SNP C C T TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr17:72340946C>T ENST00000389916.4 + 7 767 c.629C>T c.(628-630)cCc>cTc p.P210L NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 210 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 ACCCAGGAGCCCACGGCCGCC 0.667000 6 41 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488523 108488523 + Missense_Mutation SNP A A G TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr2:108488523A>G ENST00000408999.3 + 20 4140 c.4063A>G c.(4063-4065)Aaa>Gaa p.K1355E RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1355 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GGAAAATGAAAAAGTTGTTTT 0.363000 27 184 0 0 1 0 0 NXNL1 115861 broad.mit.edu 37 19 17571489 17571489 + Missense_Mutation SNP C C T rs150719211 byFrequency TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:17571489C>T ENST00000301944.2 - 1 274 c.190G>A c.(190-192)Gag>Aag p.E64K CTD-2521M24.10_ENST00000594663.1_5'UTR NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 64 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 ACATAGAACTCATCTGTGAGC 0.597000 5 103 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165365287 165365288 + Frame_Shift_Ins INS - - T TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr2:165365287_165365288insT ENST00000263915.3 - 7 1429_1430 c.891_892insA c.(889-894)aaatggfs p.W298fs GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 298 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity p.K297fs*23(2) breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GGTGCTCCATGTTTTTTTTTGC 0.371 9 137 --- --- --- --- PURA 5813 broad.mit.edu 37 5 139494097 139494098 + Frame_Shift_Ins INS - - A TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr5:139494097_139494098insA ENST00000331327.3 + 1 390_391 c.331_332insA c.(331-333)cgafs p.R111fs NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 111 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGAGTTCCGCGACTACCTG 0.688 7 13 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 3 6 --- --- --- --- RP11-478B9.1 0 broad.mit.edu 37 12 45466373 45466374 + RNA INS - - A TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr12:45466373_45466374insA ENST00000548424.1 + 0 448 AAGAAGCATTGAAAAAAATCTT 0.386 2 4 --- --- --- --- ABCA17P 0 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 2 4 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr16:90161966delT ENST00000564451.1 + 0 1319 TUBB8P7_ENST00000567960.1_RNA CTACCATGAGTTGGGGTCACC 0.542 7 2 --- --- --- --- ARID3A 1820 broad.mit.edu 37 19 932497 932499 + In_Frame_Del DEL GAG GAG - TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:932497_932499delGAG ENST00000263620.3 + 3 775_777 c.448_450delGAG c.(448-450)del p.E154del NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 154 Acidic.|Glu-rich. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 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) ttacgaggatgaggaggaggagg 0.670 3 6 --- --- --- --- AC006293.3 0 broad.mit.edu 37 19 55221804 55221805 + RNA INS - - AC rs45583536 TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:55221804_55221805insAC ENST00000413439.1 + 0 1415 CAGAGACAGAGACTGAGGGTCC 0.614 4 9 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084384 26084384 + RNA DEL T T - TCGA-EM-A2CS-01A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55ab2585-c937-4a29-9caf-62daf8fccc5d 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr20:26084384delT ENST00000478176.1 - 0 150 NR_003678.1 AAAAAGTCAGTTTTAAACCAC 0.328 9 11 --- --- --- ---