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 KLHL36 79786 broad.mit.edu 37 16 84691221 84691221 + Missense_Mutation SNP G G A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr16:84691221G>A ENST00000564996.1 + 3 949 c.808G>A c.(808-810)Gcc>Acc p.A270T KLHL36_ENST00000258157.5_Missense_Mutation_p.A270T NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 270 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CATCGAGGAGGCCGTGCGCTA 0.677000 20 54 0 0 1 0 0 KLC2 64837 broad.mit.edu 37 11 66032653 66032653 + Missense_Mutation SNP C C G TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr11:66032653C>G ENST00000394065.2 + 9 1882 c.864C>G c.(862-864)gaC>gaG p.D288E KLC2_ENST00000417856.1_Missense_Mutation_p.D427E|KLC2_ENST00000316924.5_Missense_Mutation_p.D427E|KLC2_ENST00000394067.2_Missense_Mutation_p.D427E|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000421552.1_Missense_Mutation_p.D350E|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394066.2_Missense_Mutation_p.D350E Q9H0B6 KLC2_HUMAN kinesin light chain 2 427 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 AGCGCCGGGACAGCGCCCCCT 0.657000 OREG0021098 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 117 0 0 1 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 8 31 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2613619 2613619 + Silent SNP C C T TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr12:2613619C>T ENST00000399634.1 + 8 1131 c.1131C>T c.(1129-1131)ggC>ggT p.G377G CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399603.1_Silent_p.G377G|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Silent_p.G377G|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399617.1_Silent_p.G377G|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000406454.3_Silent_p.G377G|CACNA1C_ENST00000347598.4_Intron NM_001167625.1 NP_001161097.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 377 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACGCTATGGGCTATGAGTTAC 0.478000 60 96 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938184 14938184 + Silent SNP A A G TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr19:14938184A>G ENST00000322301.3 - 2 957 c.870T>C c.(868-870)taT>taC p.Y290Y OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y290Y(2) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TCCTCAGACTATAGATAAAGG 0.478000 6 156 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50435872 50435872 + Silent SNP A A C TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr19:50435872A>C ENST00000423777.2 + 3 749 c.372A>C c.(370-372)ccA>ccC p.P124P ATF5_ENST00000595125.1_Silent_p.P124P|CTC-326K19.6_ENST00000451973.1_Intron NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 124 Interaction with PTP4A1 (By similarity).|Poly-Pro. regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCCTCccaccaccctccccgc 0.642000 4 2 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079869 57079869 + Missense_Mutation SNP T T C rs138489179 byFrequency TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr8:57079869T>C ENST00000316981.3 - 5 915 c.436A>G c.(436-438)Aca>Gca p.T146A PLAG1_ENST00000429357.2_Missense_Mutation_p.T146A|PLAG1_ENST00000423799.2_Missense_Mutation_p.T64A NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 146 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TCACCACTTGTTGCGGCATGC 0.468000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 24 26 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13056437 13056437 + Missense_Mutation SNP G G C TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr18:13056437G>C ENST00000506447.1 + 19 3928 c.3848G>C c.(3847-3849)gGc>gCc p.G1283A CEP192_ENST00000325971.8_Missense_Mutation_p.G687A|CEP192_ENST00000430049.2_Missense_Mutation_p.G808A NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 878 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGCCATGCTGGCAATGCCACA 0.547000 25 70 0 0 1 0 0 NAA60 79903 broad.mit.edu 37 16 3526257 3526257 + Silent SNP C C T TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr16:3526257C>T ENST00000407558.4 + 3 333 c.30C>T c.(28-30)ctC>ctT p.L10L NAA60_ENST00000424546.2_Intron|NAA60_ENST00000573580.1_Intron|NAA60_ENST00000570819.1_Silent_p.L10L|NAA60_ENST00000421765.3_Silent_p.L10L|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000577013.1_Silent_p.L10L|NAA60_ENST00000414063.2_Silent_p.L10L|NAA60_ENST00000572584.1_Silent_p.L10L|NAA60_ENST00000575076.1_Silent_p.L10L|NAA60_ENST00000572942.1_Silent_p.L10L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000570551.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Silent_p.L10L NM_001083601.1 NP_001077070.1 Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 10 N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 CCAGCGCGCTCAGCGAGGTCA 0.607000 20 27 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61666066 61666066 + Silent SNP T T C TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr10:61666066T>C ENST00000263102.6 - 1 348 c.117A>G c.(115-117)ggA>ggG p.G39G NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 39 Poly-Gly. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) cgccgccgcctcccccgccgc 0.726000 T RET NSCLC 8 55 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657388 40657388 + Silent SNP G G A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr2:40657388G>A ENST00000406785.1 - 2 222 c.33C>T c.(31-33)ccC>ccT p.P11P SLC8A1_ENST00000405901.3_Silent_p.P11P|SLC8A1_ENST00000405269.1_Silent_p.P11P|SLC8A1_ENST00000542756.1_Silent_p.P11P|SLC8A1_ENST00000542024.1_Silent_p.P11P|SLC8A1_ENST00000408028.2_Silent_p.P11P|SLC8A1_ENST00000406391.2_Silent_p.P11P|SLC8A1_ENST00000403092.1_Silent_p.P11P|SLC8A1_ENST00000402441.1_Silent_p.P11P|SLC8A1_ENST00000332839.4_Silent_p.P11P P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 11 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTGAAAAGGTGGGTGAAAGAC 0.413000 34 62 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18021606 18021606 + Nonsense_Mutation SNP G G T TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr22:18021606G>T ENST00000262608.8 + 14 1900 c.1900G>T c.(1900-1902)Gag>Tag p.E634* CECR2_ENST00000400573.4_Nonsense_Mutation_p.E633*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.E492* NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 675 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TGGAGTCCCGGAGCCACACCC 0.602000 9 51 1.12685e-05 1.14895e-05 1 1 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 17 6.4e-05 6.4e-05 1 1 0 SLC7A11 23657 broad.mit.edu 37 4 139100480 139100480 + Silent SNP C C T TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr4:139100480C>T ENST00000280612.5 - 11 1614 c.1335G>A c.(1333-1335)tcG>tcA p.S445S NM_014331.3 NP_055146.1 Q9UPY5 XCT_HUMAN solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 445 blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2) 18 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) TAAATGGGTCCGAATAGAGGG 0.448000 5 93 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 6 104 0 0 1 0 0 CAMP 820 broad.mit.edu 37 3 48266103 48266103 + Missense_Mutation SNP G G A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr3:48266103G>A ENST00000296435.2 + 3 485 c.329G>A c.(328-330)cGg>cAg p.R110Q CAMP_ENST00000576243.1_Missense_Mutation_p.R107Q NM_004345.4 NP_004336.3 P49913 CAMP_HUMAN cathelicidin antimicrobial peptide 107 killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface extracellular region endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CTGGTGAAGCGGTGTATGGGG 0.567000 40 132 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 964263 964263 + Missense_Mutation SNP G G A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr19:964263G>A ENST00000263620.3 + 5 1109 c.782G>A c.(781-783)cGc>cAc p.R261H NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 261 ARID. 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) CCTGTGAACCGCATCCCCATC 0.637000 4 69 0 0 1 0 0 FOLR3 2352 broad.mit.edu 37 11 71847120 71847120 + Missense_Mutation SNP A A G TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr11:71847120A>G ENST00000445078.2 + 2 187 c.116A>G c.(115-117)aAg>aGg p.K39R FOLR3_ENST00000442948.2_Missense_Mutation_p.K41R|FOLR3_ENST00000456237.1_Missense_Mutation_p.K41R P41439 FOLR3_HUMAN folate receptor 3 (gamma) 39 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) ATGAACGCCAAGCACCACAAG 0.632000 92 152 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143053998 143053998 + Missense_Mutation SNP G G A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr7:143053998G>A ENST00000409408.1 - 6 2352 c.644C>T c.(643-645)cCg>cTg p.P215L FAM131B_ENST00000409346.1_Missense_Mutation_p.P215L|FAM131B_ENST00000443739.2_Missense_Mutation_p.P243L|FAM131B_ENST00000409578.1_Missense_Mutation_p.P231L|FAM131B_ENST00000409222.3_Missense_Mutation_p.P215L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 215 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCCTGTGGCCGGAGAGGCAAT 0.557000 52 47 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef 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 41 58 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 35 513 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 907763 907764 + Frame_Shift_Ins INS - - C TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr1:907763_907764insC ENST00000379409.2 + 9 1147_1148 c.1117_1118insC c.(1117-1119)cccfs p.P373fs PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.P321fs|PLEKHN1_ENST00000379407.2_Frame_Shift_Ins_p.P333fs Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 373 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CAGGGAGGGGGCCCCGCCGCTG 0.678 6 11 --- --- --- --- SNED1 25992 broad.mit.edu 37 2 242011113 242011116 + Frame_Shift_Del DEL GAGA GAGA - TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr2:242011113_242011116delGAGA ENST00000310397.8 + 25 3712_3715 c.3712_3715delGAGA c.(3712-3717)ccfs p.ET1238fs SNED1_ENST00000401884.1_Frame_Shift_Del_p.ET1238fs|SNED1_ENST00000405547.3_Frame_Shift_Del_p.ET1238fs|SNED1_ENST00000342631.6_Frame_Shift_Del_p.ET1238fs NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 1238 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CAGCGCCCCCGAGACCCCCACCCA 0.716 2 4 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 135 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741481 + RNA DEL AA AA - rs140144338 TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr3:84741480_84741481delAA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAAA 0.386 3 6 --- --- --- --- MFI2 4241 broad.mit.edu 37 3 196733535 196733536 + Frame_Shift_Ins INS - - G TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr3:196733535_196733536insG ENST00000296350.5 - 14 1935_1936 c.1822_1823insC c.(1822-1824)agcfs p.S608fs NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 608 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding p.R608*(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CACCTCGGCTCGGGCCCCGTTG 0.624 8 77 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 8 82 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35555308 35555309 + Frame_Shift_Ins INS - - G TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr9:35555308_35555309insG ENST00000455600.1 + 3 2835_2836 c.2266_2267insG c.(2266-2268)agcfs p.S756fs NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 756 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ATCCACTCCCCGAGCCACTGGC 0.663 7 160 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75486922 75486923 + RNA INS - - A rs11387949 TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr10:75486922_75486923insA ENST00000399449.3 - 0 427 RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA GCTAACTTAGTAAAGTATAAGA 0.386 5 10 --- --- --- --- SLC5A8 160728 broad.mit.edu 37 12 101560430 101560430 + Frame_Shift_Del DEL A A - TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr12:101560430delA ENST00000536262.2 - 12 1926 c.1368delT c.(1366-1368)gtfs p.V456fs NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 456 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTCCAATTCCAACCCATAGAG 0.393 25 32 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 15 247 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr14:20296055_20296056insT ENST00000568211.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 84 484 --- --- --- --- PLA2G4F 255189 broad.mit.edu 37 15 42439919 42439920 + Frame_Shift_Ins INS - - C rs139732075 by1000genomes TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr15:42439919_42439920insC ENST00000397272.3 - 12 1197_1198 c.1106_1107insG c.(1105-1107)cgcfs p.R369fs PLA2G4F_ENST00000382396.4_Frame_Shift_Ins_p.R367fs NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 367 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AAGACATGGCTCGGGTTCCACC 0.554 7 168 --- --- --- --- IGDCC4 57722 broad.mit.edu 37 15 65678327 65678328 + Frame_Shift_Ins INS - - A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr15:65678327_65678328insA ENST00000352385.2 - 18 3230_3231 c.3021_3022insT c.(3019-3024)ctgcccfs p.P1008fs NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1008 integral to membrane|plasma membrane p.G1008C(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTGGGGGGGCCAAGCCGAGCTC 0.663 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 41 --- --- --- --- LRRC36 55282 broad.mit.edu 37 16 67399260 67399261 + Splice_Site INS - - A TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr16:67399260_67399261insA ENST00000329956.6 + 7 773 c.e7+2 LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Splice_Site|LRRC36_ENST00000435835.3_Splice_Site|LRRC36_ENST00000290940.7_Intron NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 p.?(1) endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) AGGAAGATGGTAAATATTTTGC 0.431 32 43 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 7 55 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-H2-A422-01A-11D-A23M-08 TCGA-H2-A422-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx a09c40e3-3da4-4a6f-bc1b-886d6a6c6396 d8ec6736-9410-40cc-9570-5514962644ef g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- ---