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 IGKV1-9 0 broad.mit.edu 37 2 89309913 89309913 + RNA SNP C C G TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr2:89309913C>G ENST00000493819.1 - 0 99 GGAGCCAGAGCAGCAGGAGCC 0.537000 17 87 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18779952 18779952 + Missense_Mutation SNP A A T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr19:18779952A>T ENST00000300976.4 + 3 1835 c.1745A>T c.(1744-1746)aAc>aTc p.N582I KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 582 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CAGGTGTACAACACGGACACC 0.657000 17 36 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395925 154395925 + Missense_Mutation SNP G G A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr5:154395925G>A ENST00000435029.4 + 1 2666 c.2506G>A c.(2506-2508)Gac>Aac p.D836N NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 836 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAGATTGCTGACCTACAGCA 0.443000 13 29 0 0 1 0 0 GLOD5 392465 broad.mit.edu 37 X 48631755 48631755 + Silent SNP A A G TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chrX:48631755A>G ENST00000303227.6 + 4 428 c.387A>G c.(385-387)ccA>ccG p.P129P GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 AGGAGGGGCCAGTCCCCAGAA 0.473000 16 11 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243736307 243736307 + Missense_Mutation SNP C C T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr1:243736307C>T ENST00000366539.1 - 9 940 c.740G>A c.(739-741)cGc>cAc p.R247H AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 247 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GAAACGTGTGCGGTCCTCAGA 0.418000 3 29 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 18 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118374951 118374951 + Missense_Mutation SNP A A G TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr11:118374951A>G ENST00000534358.1 + 27 8367 c.8344A>G c.(8344-8346)Aag>Gag p.K2782E KMT2A_ENST00000389506.5_Missense_Mutation_p.K2779E|KMT2A_ENST00000354520.4_Missense_Mutation_p.K2741E NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AAATGAGCCAAAGATGGATAA 0.433000 23 78 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22054270 22054270 + Nonsense_Mutation SNP A A T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr8:22054270A>T ENST00000306385.5 + 14 2513 c.1843A>T c.(1843-1845)Aag>Tag p.K615* BMP1_ENST00000306349.8_Nonsense_Mutation_p.K615*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.K615*|BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 615 CUB 3. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CCCCCCCAACAAGAACTGCAT 0.607000 13 23 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71512720 71512720 + Missense_Mutation SNP C C A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr1:71512720C>A ENST00000370924.4 - 1 771 c.541G>T c.(541-543)Gtg>Ttg p.V181L PTGER3_ENST00000460330.1_Missense_Mutation_p.V181L|PTGER3_ENST00000354608.5_Missense_Mutation_p.V181L|PTGER3_ENST00000356595.4_Missense_Mutation_p.V181L|PTGER3_ENST00000414819.1_Missense_Mutation_p.V181L|PTGER3_ENST00000370931.3_Missense_Mutation_p.V181L|PTGER3_ENST00000370932.2_Missense_Mutation_p.V181L|PTGER3_ENST00000306666.5_Missense_Mutation_p.V181L|PTGER3_ENST00000351052.5_Missense_Mutation_p.V181L NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 181 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GCCAGCCACACGCCGAGCAGC 0.726000 4 50 0.014758 0.0153046 1 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101794169 101794169 + Missense_Mutation SNP G G A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr5:101794169G>A ENST00000506729.1 - 6 1219 c.1048C>T c.(1048-1050)Cgt>Tgt p.R350C SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000379810.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 350 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGCTGTTTACGTTTCCTAGCT 0.294000 19 25 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85375047 85375047 + Silent SNP C C T TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr11:85375047C>T ENST00000527447.1 - 1 1099 c.873G>A c.(871-873)ctG>ctA p.L291L CREBZF_ENST00000398294.2_Silent_p.L209L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 291 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GCGAGGTGGTCAGCCGCAGTC 0.652000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 112 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713459 138713459 + Silent SNP G G A rs117165081 by1000genomes TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr9:138713459G>A ENST00000389532.4 - 11 3112 c.3048C>T c.(3046-3048)gaC>gaT p.D1016D CAMSAP1_ENST00000312405.6_Silent_p.D738D|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.D1027D NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1016 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) ATTCATTCACGTCGACAACCT 0.512000 4 51 0 0 1 0 0 POLR2J4 0 broad.mit.edu 37 7 44054352 44054352 + RNA SNP T T C rs56000326 by1000genomes TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr7:44054352T>C ENST00000427076.1 - 0 209 NR_003655.2 AGCCAGCAAATAGCACTTGCG 0.577000 7 152 0 0 1 0 0 CYP4F24P 0 broad.mit.edu 37 19 15881953 15881953 + RNA SNP A A G rs4807986 by1000genomes TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr19:15881953A>G ENST00000587443.2 - 0 944 NR_033864.1 p.W142fs*32(2) CGGAAGCGCCACCCGTCATGG 0.537000 6 61 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c 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 27 44 0 0 1 0 0 NBEAP1 0 broad.mit.edu 37 15 20874799 20874799 + RNA SNP A A C rs11633771 by1000genomes TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr15:20874799A>C ENST00000556948.1 - 0 449 ATACATACCTAATCCTTTAGG 0.343000 26 51 0 0 1 0 0 PRR5-ARHGAP8 0 broad.mit.edu 37 22 45210582 45210582 + Silent SNP G G A TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr22:45210582G>A ENST00000352766.7 + 10 960 c.960G>A c.(958-960)gtG>gtA p.V320V ARHGAP8_ENST00000336963.4_Silent_p.V110V|ARHGAP8_ENST00000356099.6_Silent_p.V110V|ARHGAP8_ENST00000389774.2_Silent_p.V141V|ARHGAP8_ENST00000389773.5_Silent_p.V232V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V241V|ARHGAP8_ENST00000517296.3_Silent_p.V320V breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CCCTCTACGTGGTGCACCCCA 0.577000 7 68 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25769225 25769225 + Frame_Shift_Del DEL C C - TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr4:25769225delC ENST00000399878.3 - 19 2889 c.2767delG c.(2767-2769)ccfs p.A923fs SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.A770fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.A888fs NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 923 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TATCTCCTGGCCAGGTCCTAA 0.388 2 4 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 9 124 --- --- --- --- BACH1 571 broad.mit.edu 37 21 30714912 30714912 + Frame_Shift_Del DEL A A - TCGA-MK-A4N6-01A-11D-A257-08 TCGA-MK-A4N6-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c33c94b9-d7ae-44b7-9ce9-0fa286a340fd f7d47101-8886-4c3c-a71f-4ab80053107c g.chr21:30714912delA ENST00000399921.1 + 5 2212 c.1969delA c.(1969-1971)aafs p.K657fs BACH1_ENST00000286800.3_Frame_Shift_Del_p.K657fs NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 657 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TGAAAAAGATAAAAGTACTCC 0.443 20 61 --- --- --- ---