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 VSX2 338917 broad.mit.edu 37 14 74726471 74726471 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr14:74726471C>T ENST00000261980.2 + 4 836 c.746C>T c.(745-747)gCc>gTc p.A249V NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 249 CVC. multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) GACTCCTGTGCCCCGTGGCTA 0.657000 3 19 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51975311 51975311 + Silent SNP A A G TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr15:51975311A>G ENST00000220478.3 + 3 574 c.171A>G c.(169-171)acA>acG p.T57T SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 57 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) TTAAAAAAACATATCCTCCAG 0.343000 39 42 0 0 1 0 0 IL11RA 3590 broad.mit.edu 37 9 34657044 34657044 + Missense_Mutation SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr9:34657044G>A ENST00000555003.1 + 5 1700 c.344G>A c.(343-345)cGc>cAc p.R115H IL11RA_ENST00000602473.1_Missense_Mutation_p.R115H|GALT_ENST00000556278.1_Missense_Mutation_p.259_259insH|IL11RA_ENST00000441545.2_Missense_Mutation_p.R115H|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.R115H|IL11RA_ENST00000318041.9_Missense_Mutation_p.R115H Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 115 Fibronectin type-III 1. integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) CCTCCAGCCCGCCCTGTTGTC 0.592000 24 58 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26377234 26377234 + Nonsense_Mutation SNP G G T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr10:26377234G>T ENST00000265944.5 + 15 1628 c.1462G>T c.(1462-1464)Gga>Tga p.G488* MYO3A_ENST00000543632.1_Nonsense_Mutation_p.G488* NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 488 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TAGCAGATTTGGAAAATACTT 0.378000 31 55 7.16923e-06 7.84134e-06 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125521715 125521715 + Missense_Mutation SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:125521715G>A ENST00000431078.1 + 16 2885 c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 841 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CATTCGACTCGAAATAAGCTG 0.373000 30 57 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109106455 109106455 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:109106455C>T ENST00000309863.6 + 18 4928 c.4214C>T c.(4213-4215)gCg>gTg p.A1405V NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1405 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TCCAAAGAGGCGGAACTCCGG 0.398000 10 20 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117775256 117775256 + Silent SNP T T C rs137900857 TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chrX:117775256T>C ENST00000276204.6 + 39 4322 c.4248T>C c.(4246-4248)acT>acC p.T1416T DOCK11_ENST00000276202.7_Silent_p.T1416T Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1416 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CATTTTTCACTCAGTGCTTCA 0.383000 18 22 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33567504 33567504 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr20:33567504C>T ENST00000262873.7 + 5 457 c.365C>T c.(364-366)cCg>cTg p.P122L NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 80 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity p.P122Q(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCCATGAACCCGCCTCGCTTC 0.637000 30 47 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47038461 47038461 + Silent SNP C C A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:47038461C>A ENST00000450053.3 + 18 2753 c.2574C>A c.(2572-2574)atC>atA p.I858I NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I858I NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 858 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) AGAACAACATCTGCCTGGACC 0.622000 8 27 0.000274275 0.000282342 1 1 0 MYH9 4627 broad.mit.edu 37 22 36680210 36680210 + Silent SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr22:36680210G>A ENST00000216181.5 - 40 5924 c.5694C>T c.(5692-5694)cgC>cgT p.R1898R MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1898 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTCCAGCTCGCGCTGCAGTT 0.667000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 4 101 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52596043 52596043 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr10:52596043C>T ENST00000395489.2 - 8 770 c.374G>A c.(373-375)aGt>aAt p.S125N A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N|A1CF_ENST00000374001.1_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 132 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GTTGTCCACACTGGCACAAAC 0.433000 31 39 0 0 1 0 0 RGMB 285704 broad.mit.edu 37 5 98115306 98115306 + Missense_Mutation SNP A A C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr5:98115306A>C ENST00000308234.7 + 4 684 c.282A>C c.(280-282)caA>caC p.Q94H RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H|RGMB_ENST00000504776.1_3'UTR NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 53 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) AGCCAGCCCAATGTCGAATCC 0.468000 88 108 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158655065 158655065 + Missense_Mutation SNP T T A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr1:158655065T>A ENST00000368148.3 - 2 277 c.97A>T c.(97-99)Act>Tct p.T33S SPTA1_ENST00000368147.3_Missense_Mutation_p.T33S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 33 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGATACCGAGTCAACACTTCC 0.478000 40 81 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd 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 3 28 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678110 48678110 + Silent SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr17:48678110G>A ENST00000352832.5 + 17 4017 c.3645G>A c.(3643-3645)gcG>gcA p.A1215A CACNA1G_ENST00000513964.1_Silent_p.A1238A|CACNA1G_ENST00000416767.4_Silent_p.A1238A|CACNA1G_ENST00000515765.1_Silent_p.A1238A|CACNA1G_ENST00000507336.1_Silent_p.A1238A|CACNA1G_ENST00000515411.1_Silent_p.A1238A|CACNA1G_ENST00000514717.1_Silent_p.A1215A|CACNA1G_ENST00000505165.1_Silent_p.A1238A|CACNA1G_ENST00000514181.1_Silent_p.A1238A|CACNA1G_ENST00000514079.1_Silent_p.A1238A|CACNA1G_ENST00000510366.1_Silent_p.A1238A|CACNA1G_ENST00000360761.4_Silent_p.A1215A|CACNA1G_ENST00000513689.2_Silent_p.A1238A|CACNA1G_ENST00000515165.1_Silent_p.A1238A|CACNA1G_ENST00000503485.1_Silent_p.A1238A|CACNA1G_ENST00000354983.4_Silent_p.A1215A|CACNA1G_ENST00000510115.1_Silent_p.A1215A|CACNA1G_ENST00000442258.2_Silent_p.A1215A|CACNA1G_ENST00000507896.1_Silent_p.A1238A|CACNA1G_ENST00000512389.1_Silent_p.A1238A|CACNA1G_ENST00000429973.2_Silent_p.A1238A|CACNA1G_ENST00000507510.2_Silent_p.A1238A|CACNA1G_ENST00000507609.1_Silent_p.A1238A|CACNA1G_ENST00000502264.1_Silent_p.A1215A|CACNA1G_ENST00000359106.5_Silent_p.A1238A|CACNA1G_ENST00000358244.5_Silent_p.A1215A NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1238 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGGTCCGCGCGTGGATCCGAG 0.632000 30 47 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195391111 195391111 + RNA SNP T T C rs150842970 by1000genomes TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:195391111T>C ENST00000445430.1 + 0 637 TTGCACACCTTATATGGGAGG 0.597000 3 36 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230271991 230271991 + Missense_Mutation SNP G G T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:230271991G>T ENST00000341772.4 - 10 1814 c.1680C>A c.(1678-1680)agC>agA p.S560R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 560 EGF-like 9.|Follistatin-like. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.S560S(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCAGGCCGTCGCTGTCACAGG 0.512000 6 121 0.000442599 0.000442599 1 1 0 PARP9 83666 broad.mit.edu 37 3 122274491 122274491 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:122274491C>T ENST00000462315.1 - 4 820 c.527G>A c.(526-528)gGa>gAa p.G176E PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000477522.2_Missense_Mutation_p.G176E NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 211 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CTGCAGCTTTCCAGTACATCC 0.463000 7 35 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439722 52439722 + Missense_Mutation SNP T T C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr13:52439722T>C ENST00000242819.4 + 2 504 c.208T>C c.(208-210)Tgg>Cgg p.W70R NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 70 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GGAAGAGATGTGGACTTTCCG 0.468000 32 52 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152410424 152410424 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:152410424C>T ENST00000427231.2 - 126 19746 c.19544G>A c.(19543-19545)cGc>cAc p.R6515H NEB_ENST00000172853.10_Missense_Mutation_p.R4814H|NEB_ENST00000409198.1_Missense_Mutation_p.R4814H|NEB_ENST00000397345.3_Missense_Mutation_p.R6515H|NEB_ENST00000603639.1_Missense_Mutation_p.R6515H|NEB_ENST00000604864.1_Missense_Mutation_p.R6515H NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 4814 Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAGGCGCAGGCGGTAATCAAT 0.468000 36 48 0 0 1 0 0 CELA1 1990 broad.mit.edu 37 12 51737623 51737623 + Silent SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr12:51737623G>A ENST00000293636.1 - 3 154 c.114C>T c.(112-114)taC>taT p.Y38Y NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 38 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 CTCCAGACCGGTACTGGAGGG 0.502000 4 8 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123049810 123049810 + Silent SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:123049810C>T ENST00000462833.1 - 5 2784 c.1572G>A c.(1570-1572)tcG>tcA p.S524S ADCY5_ENST00000491190.1_Silent_p.S157S|ADCY5_ENST00000309879.5_Silent_p.S174S NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 524 Guanylate cyclase 1. activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CAGGCAGCCCCGAGACGCAGT 0.478000 8 37 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336228 141336228 + Missense_Mutation SNP G G C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr5:141336228G>C ENST00000231484.3 - 1 2399 c.1189C>G c.(1189-1191)Ctg>Gtg p.L397V NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 397 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTGGCCCAGCTCTTGGCTC 0.488000 5 96 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5363890 5363890 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr7:5363890C>T ENST00000399537.4 - 21 6745 c.6397G>A c.(6397-6399)Gag>Aag p.E2133K TNRC18_ENST00000430969.1_Missense_Mutation_p.E2133K O15417 TNC18_HUMAN trinucleotide repeat containing 18 2133 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCAGGTGCTCGTCCTCAGAG 0.682000 5 25 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701886 30701886 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr8:30701886C>T ENST00000256246.2 - 1 4722 c.4648G>A c.(4648-4650)Gac>Aac p.D1550N NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1550 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GACTGCGAGTCTTTACTAACT 0.388000 38 70 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533298 47533298 + Missense_Mutation SNP T T C TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr1:47533298T>C ENST00000334194.3 + 1 139 c.136T>C c.(136-138)Ttt>Ctt p.F46L NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 46 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CCTGCACCTGTTTCCTGCACC 0.498000 31 43 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129155916 129155916 + Missense_Mutation SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:129155916G>A ENST00000429544.2 - 3 766 c.571C>T c.(571-573)Ccg>Tcg p.P191S MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 191 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 CTACTTGGCGGCATAAACACA 0.443000 Base excision repair (BER), DNA glycosylases 9 535 0 0 1 0 0 PCDHGB7 0 broad.mit.edu 37 5 140799248 140799248 + Missense_Mutation SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr5:140799248G>A ENST00000398594.2 + 1 1822 c.1822G>A c.(1822-1824)Gtg>Atg p.V608M PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCCTACCACGTGGTGCAGGC 0.687000 4 105 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695157 247695157 + Silent SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr1:247695157G>A ENST00000366487.3 - 2 1018 c.657C>T c.(655-657)taC>taT p.Y219Y GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAATGTGGCCGTAAGAGACCA 0.542000 4 62 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44234801 44234801 + Missense_Mutation SNP T T A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr22:44234801T>A ENST00000330884.4 - 4 574 c.454A>T c.(454-456)Atg>Ttg p.M152L SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 152 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) CGGTAGCTCATGGTCCGCAGA 0.532000 25 48 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99127163 99127163 + Missense_Mutation SNP G G T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr13:99127163G>T ENST00000397517.2 - 5 585 c.509C>A c.(508-510)aCa>aAa p.T170K STK24_ENST00000539966.1_Missense_Mutation_p.T151K|STK24_ENST00000376547.3_Missense_Mutation_p.T182K NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 182 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTGGGTGTCTGTCAGCTGGCC 0.612000 13 33 1.49906e-05 1.58991e-05 1 1 0 GPBAR1 151306 broad.mit.edu 37 2 219127538 219127538 + Missense_Mutation SNP G G A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:219127538G>A ENST00000522678.1 + 2 959 c.91G>A c.(91-93)Gcg>Acg p.A31T GPBAR1_ENST00000479077.1_Missense_Mutation_p.A31T|GPBAR1_ENST00000519574.1_Missense_Mutation_p.A31T|GPBAR1_ENST00000521462.1_Missense_Mutation_p.A31T NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 31 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCATCACCGCGAACCTGCT 0.672000 11 19 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874771 80874771 + Missense_Mutation SNP C C T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr2:80874771C>T ENST00000466387.1 + 22 3216 c.2492C>T c.(2491-2493)aCg>aTg p.T831M CTNNA2_ENST00000402739.4_Missense_Mutation_p.T879M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T786M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.T510M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T865M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T831M P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 879 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GTTGTCCTCACGGTGAAAGCA 0.478000 44 65 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043658 25043658 + Silent SNP C C A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr14:25043658C>A ENST00000216336.2 - 4 423 c.387G>T c.(385-387)ctG>ctT p.L129L NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 129 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GGGCTCTAGGCAGAGCCACTG 0.627000 21 107 1.50039e-11 1.69399e-11 1 1 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 307 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880744 137880746 + In_Frame_Del DEL TCA TCA - TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr3:137880744_137880746delTCA ENST00000260803.4 - 8 1773_1775 c.1620_1622delTGA c.(1618-1623)gac>ga p.DD540del DBR1_ENST00000505015.2_In_Frame_Del_p.DD306del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 540 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 AGCTGCATCGTCATCATCATCAT 0.399 7 475 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89692959 89692960 + Frame_Shift_Ins INS - - A TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr10:89692959_89692960insA ENST00000371953.3 + 5 1800_1801 c.443_444insA c.(442-444)gcafs p.A148fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 148 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K147fs*5(1)|p.A148E(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTTTAAAGGCACAAGAGGCCC 0.381 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 40 24 --- --- --- --- POLR3B 55703 broad.mit.edu 37 12 106820973 106820973 + Splice_Site DEL A A - TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr12:106820973delA ENST00000228347.4 + 13 1323 c.e13-1 POLR3B_ENST00000539066.1_Splice_Site|POLR3B_ENST00000549195.1_Splice_Site NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTTTAGCTTTTATCT 0.269 2 4 --- --- --- --- HTR2A 3356 broad.mit.edu 37 13 47409098 47409099 + Frame_Shift_Ins INS - - T TCGA-KK-A6E1-01A-11D-A30X-08 TCGA-KK-A6E1-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 13b7e087-b8c9-4aca-82d5-bad335e8c8ac 94ff6d8f-9403-4266-a6a8-0c264a0116fd g.chr13:47409098_47409099insT ENST00000378688.4 - 3 1420_1421 c.1289_1290insA c.(1288-1290)aaafs p.K430fs HTR2A_ENST00000542664.1_Frame_Shift_Ins_p.K430fs|HTR2A_ENST00000543956.1_Frame_Shift_Ins_p.K346fs P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 430 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCTTTGAATTCTTTTTTTGTCC 0.401 45 43 --- --- --- ---