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 RPL12P38 0 broad.mit.edu 37 17 58512765 58512765 + RNA SNP C C G TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr17:58512765C>G ENST00000588627.1 - 0 592 GGCTTTATCTCCTTTAGCATC 0.567000 8 4 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47256422 47256422 + Missense_Mutation SNP C C T TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr11:47256422C>T ENST00000256996.4 + 6 1012 c.817C>T c.(817-819)Cgc>Tgc p.R273C DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 273 R -> H (in XP-E; impairs interaction with DDB1 and CUL4A). nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TTGGGACCTGCGCCAGGTTAG 0.537000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 10 23 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709265 128709265 + Missense_Mutation SNP G G A TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr11:128709265G>A ENST00000392665.2 - 2 1018 c.874C>T c.(874-876)Cgg>Tgg p.R292W KCNJ1_ENST00000392666.1_Missense_Mutation_p.R292W|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R292W|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R292W|KCNJ1_ENST00000392664.2_Missense_Mutation_p.R311W NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 311 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TAGGATGTCCGGACTTGGCAG 0.498000 4 40 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38932056 38932056 + Missense_Mutation SNP A A G TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr5:38932056A>G ENST00000274276.3 + 16 2686 c.2284A>G c.(2284-2286)Aaa>Gaa p.K762E NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 762 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GTGCTACTTGAAAAGTCAGTG 0.388000 4 45 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094025 79094025 + Silent SNP G G A TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr17:79094025G>A ENST00000326724.4 - 11 3735 c.3711C>T c.(3709-3711)gaC>gaT p.D1237D AATK_ENST00000417379.1_Silent_p.D1134D NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1237 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) AGACGGTGACGTCGTCGAAGA 0.697000 16 36 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 9857512 9857512 + Missense_Mutation SNP C C T TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr16:9857512C>T ENST00000396573.2 - 14 4198 c.3889G>A c.(3889-3891)Gac>Aac p.D1297N GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1297N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1297N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1297 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTAGGTTTGTCGACAATGTTA 0.507000 9 58 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79531254 79531254 + Silent SNP T T C TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr4:79531254T>C ENST00000264908.6 + 13 1336 c.957T>C c.(955-957)tgT>tgC p.C319C ANXA3_ENST00000503570.2_Silent_p.C280C|ANXA3_ENST00000512884.1_Silent_p.C280C NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 319 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TAAAAATCTGTGGTGGAGATG 0.378000 3 20 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23826191 23826191 + Missense_Mutation SNP C C A TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr7:23826191C>A ENST00000354639.3 + 19 2734 c.2270C>A c.(2269-2271)gCt>gAt p.A757D STK31_ENST00000433467.2_Missense_Mutation_p.A780D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.A757D|STK31_ENST00000355870.3_Missense_Mutation_p.A780D NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 780 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TACCATAGAGCTTGGAGAGAA 0.423000 3 39 0.004672 0.00507826 1 1 0 IGHA1 0 broad.mit.edu 37 14 106174298 106174298 + RNA SNP G G T TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr14:106174298G>T ENST00000390547.2 - 0 490 CCCACTTGAGGGCGTCCAGGT 0.622000 5 5 0.014758 0.0153729 1 1 0 EFCAB3 146779 broad.mit.edu 37 17 60484520 60484520 + Missense_Mutation SNP C C T rs115042128 byFrequency TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr17:60484520C>T ENST00000450662.2 + 10 1041 c.970C>T c.(970-972)Cct>Tct p.P324S EFCAB3_ENST00000305286.3_Missense_Mutation_p.P272S NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 272 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AATAAAGGAGCCTTTGCATTT 0.348000 9 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082732 9082732 + Missense_Mutation SNP C C A rs139519759 by1000genomes TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr19:9082732C>A ENST00000397910.4 - 1 9286 c.9083G>T c.(9082-9084)aGt>aTt p.S3028I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3029 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGAGAGGAACTAGAACCAGA 0.488000 22 30 5.26018e-13 6.26212e-13 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 12 31 0 0 1 0 0 KB-1592A4.15 0 broad.mit.edu 37 22 21470381 21470381 + RNA SNP G G A TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr22:21470381G>A ENST00000420508.1 - 0 3347 BCRP2_ENST00000461808.1_RNA TGCGCAGGACGGGATGGAGGT 0.572000 6 20 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117053451 117053451 + Missense_Mutation SNP C C A TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr6:117053451C>A ENST00000368564.1 + 14 1733 c.1585C>A c.(1585-1587)Cag>Aag p.Q529K KPNA5_ENST00000356348.1_Missense_Mutation_p.Q529K O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 526 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TATATTTCAGCAGCAGGAAGC 0.393000 3 38 1 1 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27057668 27057668 + Missense_Mutation SNP C C T TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr1:27057668C>T ENST00000324856.7 + 3 1747 c.1376C>T c.(1375-1377)cCc>cTc p.P459L ARID1A_ENST00000374152.2_Missense_Mutation_p.P76L|ARID1A_ENST00000457599.2_Missense_Mutation_p.P459L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 459 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAACAAGGCCCCAGCGGGTAT 0.502000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 56 49 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158507947 158507947 + Missense_Mutation SNP G G A rs141300011 TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr6:158507947G>A ENST00000355585.4 + 23 3344 c.3269G>A c.(3268-3270)cGt>cAt p.R1090H SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Missense_Mutation_p.R175H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R1090H NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1090 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TTCCGCCACCGTTCTCCGAGC 0.642000 9 34 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130287370 130287371 + Frame_Shift_Ins INS - - T TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr3:130287370_130287371insT ENST00000358511.6 + 5 2354_2355 c.2323_2324insT c.(2323-2325)tttfs p.F775fs COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.F775fs NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 775 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCCCGAGATGGTTTTTTATGTT 0.470 9 39 --- --- --- --- RNF44 22838 broad.mit.edu 37 5 175957618 175957618 + Frame_Shift_Del DEL G G - TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr5:175957618delG ENST00000274811.4 - 6 1290 c.766delC c.(766-768)acfs p.H256fs RNF44_ENST00000537487.1_Frame_Shift_Del_p.H175fs NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 256 Pro-rich. zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCGGATCGTGGGGCAGGTAG 0.706 2 4 --- --- --- --- RP11-85G18.6 0 broad.mit.edu 37 10 27535199 27535199 + RNA DEL A A - TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr10:27535199delA ENST00000574842.1 + 0 255 TGGCTGTCTGAATGAGAAAGA 0.438 2 4 --- --- --- --- HMX3 340784 broad.mit.edu 37 10 124895618 124895620 + In_Frame_Del DEL CCG CCG - TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr10:124895618_124895620delCCG ENST00000357878.5 + 1 141_143 c.52_54delCCG c.(52-54)del p.P24del NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 24 Pro-rich. cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) ACAGCCCCAACCGCCGCCGCCCC 0.754 2 4 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 2 4 --- --- --- --- AGBL1 123624 broad.mit.edu 37 15 87097705 87097705 + Frame_Shift_Del DEL G G - TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr15:87097705delG ENST00000441037.2 + 20 2888 c.2793delG c.(2791-2793)atfs p.M931fs AGBL1_ENST00000421325.2_Frame_Shift_Del_p.M931fs|AGBL1_ENST00000389298.3_Frame_Shift_Del_p.M662fs NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 931 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GGAGAGAGATGGGGGTGTCCA 0.547 2 4 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42791822 42791824 + In_Frame_Del DEL GTG GTG - TCGA-DB-A4XA-01A-11D-A26M-08 TCGA-DB-A4XA-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb5e54dc-5a3c-4a34-8f3c-969d03648335 232a02d7-127b-4021-8da7-27e6b63a1a7d g.chr19:42791822_42791824delGTG ENST00000572681.2 + 6 3503_3505 c.3435_3437delGTG c.(3433-3438)gag>ga p.EW1145del CIC_ENST00000575354.2_In_Frame_Del_p.EW236del|CIC_ENST00000160740.3_In_Frame_Del_p.EW236del Q96RK0 CIC_HUMAN capicua transcriptional repressor 236 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TCCTGGGCGAGTGGTGGTATGCC 0.611 """Mis, F, S""" oligodendroglioma 12 47 --- --- --- ---