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 AC024560.3 0 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 4 123 0 0 0.150653 0 0 OR1A1 8383 broad.mit.edu 37 17 3119138 3119138 + Missense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr17:3119138C>T ENST00000304094.1 + 1 224 c.224C>T c.(223-225)tCg>tTg p.S75L NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TTCTTCTCATCGGTAACCATC 0.483000 50 129 0 0 0.870114 0 0 VNN3 55350 broad.mit.edu 37 6 133045776 133045776 + Missense_Mutation SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr6:133045776A>G ENST00000207771.3 - 6 1241 c.1169T>C c.(1168-1170)cTg>cCg p.L390P VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000425515.2_3'UTR vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) TACTGTGTGCAGTCCATCAAA 0.388000 6 12 0 0 0.248553 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 38 0 0 0.115264 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045799 26045799 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr6:26045799G>A ENST00000540144.1 + 1 161 c.161G>A c.(160-162)cGc>cAc p.R54H NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 54 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GAAATCCGTCGCTACCAGAAG 0.622000 5 35 0 0 0.184627 0 0 TENC1 23371 broad.mit.edu 37 12 53457348 53457348 + Splice_Site SNP T T C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr12:53457348T>C ENST00000314250.6 + 28 4353 c.4061_splice c.e28-1 p.W1355_splice TENC1_ENST00000552570.1_Splice_Site_p.W1353_splice|TENC1_ENST00000379902.3_Splice_Site_p.W1231_splice|TENC1_ENST00000546602.1_Splice_Site_p.W1258_splice|TENC1_ENST00000314276.3_Splice_Site_p.W1365_splice|TENC1_ENST00000451358.1_Splice_Site_p.W1345_splice|TENC1_ENST00000549700.1_Splice_Site_p.W1290_splice NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1355 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CTTCTGCAGATGGACCAACCC 0.642000 3 88 0 0 0.150653 0 0 BBS7 0 broad.mit.edu 37 4 122782768 122782768 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr4:122782768G>A ENST00000264499.4 - 4 415 c.232C>T c.(232-234)Cct>Tct p.P78S BBS7_ENST00000506636.1_Missense_Mutation_p.P78S NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 78 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TTCTCCTGAGGTGTGTTGATA 0.418000 Bardet-Biedl syndrome 23 10 0 0 0.639603 0 0 EVX1 2128 broad.mit.edu 37 7 27282671 27282671 + Missense_Mutation SNP G G C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr7:27282671G>C ENST00000496902.4 + 1 508 c.22G>C c.(22-24)Gtt>Ctt p.V8L EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.V8L|EVX1-AS_ENST00000519218.1_RNA P49640 EVX1_HUMAN even-skipped homeobox 1 8 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 AAAGGACATGGTTGTGTTTCT 0.642000 3 7 0 0 0.115264 0 0 CAST 831 broad.mit.edu 37 5 96077000 96077000 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr5:96077000G>A ENST00000395813.1 + 14 1135 c.949G>A c.(949-951)Gcc>Acc p.A317T CAST_ENST00000325674.7_Missense_Mutation_p.A282T|CAST_ENST00000309190.5_Missense_Mutation_p.A212T|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000511782.1_Missense_Mutation_p.A220T|CAST_ENST00000511049.1_Missense_Mutation_p.A220T|CAST_ENST00000510756.1_Missense_Mutation_p.A295T|CAST_ENST00000509903.1_Missense_Mutation_p.A199T|CAST_ENST00000508830.1_Missense_Mutation_p.A317T|CAST_ENST00000508608.1_Missense_Mutation_p.A280T|CAST_ENST00000504465.1_Missense_Mutation_p.A162T|CAST_ENST00000395812.2_Missense_Mutation_p.A276T|CAST_ENST00000359176.4_Missense_Mutation_p.A298T|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.A234T|CAST_ENST00000338252.3_Missense_Mutation_p.A221T P20810 ICAL_HUMAN calpastatin 234 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TGCTATAGACGCCTTGTCATC 0.433000 21 29 0 0 0.608945 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84567021 84567021 + Silent SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr6:84567021G>A ENST00000369689.1 + 4 451 c.300G>A c.(298-300)ctG>ctA p.L100L RIPPLY2_ENST00000369687.1_Silent_p.L42L NM_001009994.1 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 100 Ripply homology domain. somite rostral/caudal axis specification nucleus large_intestine(2)|lung(4)|urinary_tract(1) 7 AAGCTCTTCTGAAAAATTTTC 0.308000 5 70 0 0 0.361761 0 0 MYO5A 4644 broad.mit.edu 37 15 52720613 52720613 + Missense_Mutation SNP G G C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr15:52720613G>C ENST00000399231.3 - 3 535 c.292C>G c.(292-294)Ctt>Gtt p.L98V MYO5A_ENST00000356338.6_Missense_Mutation_p.L98V|MYO5A_ENST00000399233.2_Missense_Mutation_p.L98V|MYO5A_ENST00000553916.1_Missense_Mutation_p.L98V|MYO5A_ENST00000358212.6_Missense_Mutation_p.L98V NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 98 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GTATAAATAAGTTTGGAATCA 0.408000 38 79 0 0 0.834066 0 0 MARCO 8685 broad.mit.edu 37 2 119739756 119739756 + Missense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr2:119739756C>T ENST00000541757.1 + 12 1072 c.692C>T c.(691-693)cCg>cTg p.P231L MARCO_ENST00000327097.4_Missense_Mutation_p.P309L Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 309 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CAGGGTGTTCCGGGCCCTCCT 0.642000 15 25 0 0 0.500413 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 32 0 0 0.115264 0 0 PCDHGC4 0 broad.mit.edu 37 5 140866540 140866540 + Silent SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr5:140866540A>G ENST00000306593.1 + 1 1800 c.1800A>G c.(1798-1800)tcA>tcG p.S600S PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTGGATTCAGGTTACAATG 0.572000 3 69 0 0 0.115264 0 0 FANCD2 2177 broad.mit.edu 37 3 10136015 10136015 + Missense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr3:10136015C>T ENST00000287647.3 + 40 4024 c.3931C>T c.(3931-3933)Ccg>Tcg p.P1311S FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1311 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GCAATGTATGCCGCTCCTAGA 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 356 0 0 0.217242 0 0 AKR1C3 8644 broad.mit.edu 37 10 5144389 5144389 + Nonsense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr10:5144389C>T ENST00000380554.3 + 6 1319 c.667C>T c.(667-669)Cga>Tga p.R223* AKR1C3_ENST00000605149.1_Nonsense_Mutation_p.R200*|AKR1C3_ENST00000439082.2_Nonsense_Mutation_p.R104* NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 223 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) GGGATCTCAACGAGACAAACG 0.383000 18 58 0 0 0.520397 0 0 KTN1 0 broad.mit.edu 37 14 56079020 56079020 + Missense_Mutation SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr14:56079020A>G ENST00000416613.1 + 1 326 c.254A>G c.(253-255)aAa>aGa p.K85R KTN1_ENST00000395309.3_Missense_Mutation_p.K85R|KTN1_ENST00000413890.2_Missense_Mutation_p.K85R|KTN1_ENST00000438792.2_Missense_Mutation_p.K85R|KTN1_ENST00000395311.1_Missense_Mutation_p.K85R|KTN1_ENST00000395314.3_Missense_Mutation_p.K85R|KTN1_ENST00000395308.1_Missense_Mutation_p.K85R Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 85 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 CGAGACTTTAAATTATCAGAT 0.358000 T RET papillary thryoid 3 90 0 0 0.150653 0 0 FUCA2 2519 broad.mit.edu 37 6 143823182 143823182 + Missense_Mutation SNP T T C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr6:143823182T>C ENST00000438118.2 - 3 517 c.490A>G c.(490-492)Agt>Ggt p.S164G RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_Missense_Mutation_p.S164G|FUCA2_ENST00000002165.5_Silent_p.V347V Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 0 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CCTCAAAAACTACAGAAATGG 0.408000 23 30 0 0 0.654019 0 0 CCR10 2826 broad.mit.edu 37 17 40832563 40832563 + Missense_Mutation SNP T T C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr17:40832563T>C ENST00000332438.4 - 2 116 c.97A>G c.(97-99)Aag>Gag p.K33E CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR NM_016602.2 NP_057686.2 P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 33 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) ACATCGGCCTTGTAGCAAAGC 0.637000 8 28 0 0 0.278610 0 0 RAB2A 5862 broad.mit.edu 37 8 61484623 61484623 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr8:61484623G>A ENST00000262646.7 + 3 488 c.137G>A c.(136-138)cGa>cAa p.R46Q RAB2A_ENST00000531289.1_Missense_Mutation_p.R22Q|RAB2A_ENST00000529579.1_Missense_Mutation_p.R46Q NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 46 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) TTCGGTGCTCGAATGATAACT 0.323000 9 32 0 0 0.387290 0 0 KIAA1217 56243 broad.mit.edu 37 10 24825812 24825812 + Missense_Mutation SNP A A T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr10:24825812A>T ENST00000376451.2 + 12 2833 c.2573A>T c.(2572-2574)aAg>aTg p.K858M KIAA1217_ENST00000307544.6_Missense_Mutation_p.K858M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.K858M|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K1140M|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K1139M|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K1175M Q5T5P2 SKT_HUMAN KIAA1217 1175 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTGCCACCCAAGGAGAAGAAG 0.507000 6 60 0 0 0.248553 0 0 CLCN7 1186 broad.mit.edu 37 16 1510460 1510460 + Missense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr16:1510460C>T ENST00000382745.4 - 6 1158 c.553G>A c.(553-555)Gcc>Acc p.A185T CLCN7_ENST00000262318.8_Missense_Mutation_p.A161T|CLCN7_ENST00000448525.1_Missense_Mutation_p.A161T NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 185 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) AGCACGAAGGCGGCGTTCAGC 0.597000 29 54 0 0 0.750413 0 0 BCAS3 54828 broad.mit.edu 37 17 58967054 58967054 + Splice_Site SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr17:58967054A>G ENST00000589222.1 + 10 729 c.e10-1 BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GAAATTTTTCAGGCTGCTATC 0.398000 3 71 0 0 0.115264 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 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 15 59 0 0 0.500413 0 0 RBM14 10432 broad.mit.edu 37 11 66392068 66392068 + Missense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr11:66392068C>T ENST00000310137.4 + 2 860 c.721C>T c.(721-723)Ccg>Tcg p.P241S RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 241 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CCGGGCCCAGCCGTCCGTGTC 0.652000 3 51 0 0 0.115264 0 0 ALMS1 7840 broad.mit.edu 37 2 73836722 73836722 + Missense_Mutation SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr2:73836722A>G ENST00000264448.6 + 23 12598 c.12487A>G c.(12487-12489)Aaa>Gaa p.K4163E ALMS1_ENST00000409009.1_Missense_Mutation_p.K4121E NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4163 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCTGGGGAGAAAAGTTCCCTG 0.433000 11 68 0 0 0.457914 0 0 KIAA1217 56243 broad.mit.edu 37 10 24833960 24833960 + Silent SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr10:24833960C>T ENST00000376451.2 + 15 4571 c.4311C>T c.(4309-4311)gcC>gcT p.A1437A KIAA1217_ENST00000307544.6_Silent_p.A904A|KIAA1217_ENST00000396445.1_Silent_p.A878A|KIAA1217_ENST00000396446.1_Silent_p.A838A|KIAA1217_ENST00000458595.1_Silent_p.A1160A|KIAA1217_ENST00000376462.1_Silent_p.A1075A|KIAA1217_ENST00000376452.3_Silent_p.A1185A|KIAA1217_ENST00000376454.3_Silent_p.A1754A Q5T5P2 SKT_HUMAN KIAA1217 1754 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCATGAGTGCCAAGAACAGAC 0.572000 8 116 0 0 0.278610 0 0 POTEG 404785 broad.mit.edu 37 14 19553812 19553812 + Silent SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr14:19553812G>A ENST00000409832.3 + 1 448 c.396G>A c.(394-396)agG>agA p.R132R NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 132 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TGGAGCCGAGGTACCACGTCC 0.592000 18 389 0 0 0.681144 0 0 CDH15 1013 broad.mit.edu 37 16 89261356 89261356 + Silent SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr16:89261356G>A ENST00000289746.2 + 14 2303 c.2238G>A c.(2236-2238)gcG>gcA p.A746A NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 746 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GCTCGGTGGCGGGGACGCTGA 0.632000 5 15 0 0 0.307466 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 3 67 0 0 0.248553 0 0 OBSCN 84033 broad.mit.edu 37 1 228529314 228529314 + Splice_Site SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr1:228529314G>A ENST00000570156.2 + 85 20978 c.20905_splice c.e85+1 p.W6968_splice OBSCN_ENST00000366709.4_Splice_Site_p.W3130_splice|OBSCN_ENST00000284548.11_Splice_Site_p.W6011_splice|OBSCN_ENST00000422127.1_Splice_Site_p.W6011_splice|OBSCN_ENST00000366707.4_Splice_Site_p.W3645_splice NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6011 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCCTGTGTGGCGTGAGTGTC 0.672000 5 18 0 0 0.217242 0 0 LTBP2 4053 broad.mit.edu 37 14 75017767 75017767 + Splice_Site SNP C C A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr14:75017767C>A ENST00000261978.4 - 7 2072 c.1686_splice c.e7+1 p.Q562_splice LTBP2_ENST00000556690.1_Splice_Site_p.Q562_splice|LTBP2_ENST00000557425.1_5'UTR NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 562 TB 1. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GTGTTCTCACCTGTCCGTTCA 0.612000 3 44 0.115264 0.119784 0.115264 1 0 RHPN2 85415 broad.mit.edu 37 19 33493201 33493201 + Missense_Mutation SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr19:33493201C>T ENST00000254260.3 - 9 1092 c.1057G>A c.(1057-1059)Gcg>Acg p.A353T RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 353 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.A353T(2) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GCCAGGGCCGCGTAGTGGTGG 0.642000 3 26 0 0 0.217242 0 0 UQCRH 7388 broad.mit.edu 37 1 46775912 46775912 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr1:46775912G>A ENST00000311672.5 + 3 303 c.167G>A c.(166-168)cGt>cAt p.R56H NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 56 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) TGTGATGAGCGTGTATCCTCT 0.512000 5 48 0 0 0.248553 0 0 KLC1 3831 broad.mit.edu 37 14 104143843 104143843 + Missense_Mutation SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr14:104143843A>G ENST00000389744.4 + 12 1740 c.1471A>G c.(1471-1473)Atg>Gtg p.M491V KLC1_ENST00000557575.1_Missense_Mutation_p.M491V|KLC1_ENST00000334553.6_Missense_Mutation_p.M491V|KLC1_ENST00000445352.4_Missense_Mutation_p.M489V|KLC1_ENST00000246489.7_Missense_Mutation_p.M491V|KLC1_ENST00000557450.1_Missense_Mutation_p.M491V|KLC1_ENST00000555836.1_Missense_Mutation_p.M491V|KLC1_ENST00000553286.1_Missense_Mutation_p.M491V|KLC1_ENST00000380038.3_Missense_Mutation_p.M491V|KLC1_ENST00000452929.2_Missense_Mutation_p.M491V|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.M663V|KLC1_ENST00000348520.6_Missense_Mutation_p.M491V|KLC1_ENST00000554280.1_Missense_Mutation_p.M491V|KLC1_ENST00000347839.6_Missense_Mutation_p.M491V Q07866 KLC1_HUMAN kinesin light chain 1 491 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) AGAAGCTGCTATGAGGTCTCG 0.398000 21 45 0 0 0.608945 0 0 HCLS1 3059 broad.mit.edu 37 3 121351926 121351926 + Missense_Mutation SNP C C A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr3:121351926C>A ENST00000314583.3 - 11 1087 c.996G>T c.(994-996)caG>caT p.Q332H HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Q295H NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 332 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCGGGAGAGTCTGCCTAATGG 0.587000 6 19 8.12818e-05 8.61588e-05 0.248553 1 0 NRCAM 4897 broad.mit.edu 37 7 107808830 107808830 + Missense_Mutation SNP T T C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr7:107808830T>C ENST00000379028.3 - 29 3675 c.3205A>G c.(3205-3207)Agg>Ggg p.R1069G NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.R1069G|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.R1069G|NRCAM_ENST00000379024.4_Intron Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1069 Fibronectin type-III 5. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTGCTGATCCTGGGATTTACT 0.353000 6 27 0 0 0.217242 0 0 FAM5B 0 broad.mit.edu 37 1 177247827 177247827 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr1:177247827G>A ENST00000361539.4 + 7 1453 c.1141G>A c.(1141-1143)Gtg>Atg p.V381M FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 381 extracellular region p.V381M(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGGCTTGAAAGTGCTGTTCAA 0.607000 46 95 0 0 0.864702 0 0 CALHM2 51063 broad.mit.edu 37 10 105209092 105209092 + Missense_Mutation SNP T T C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr10:105209092T>C ENST00000393235.1 - 3 1804 c.607A>G c.(607-609)Agg>Ggg p.R203G CALHM2_ENST00000260743.5_Intron|CALHM2_ENST00000369788.3_Intron Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 0 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 TCCCCGGACCTCTCACCAGCC 0.592000 3 74 0 0 0.115264 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 53 0 0 0.184627 0 0 SPANXD 64648 broad.mit.edu 37 X 140785767 140785767 + Missense_Mutation SNP A A G TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chrX:140785767A>G ENST00000370515.3 - 2 482 c.149T>C c.(148-150)aTa>aCa p.I50T NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) AACCACTAGTATGGTCGAGGA 0.498000 78 46 0 0 0.870114 0 0 NCAPH2 29781 broad.mit.edu 37 22 50956005 50956005 + Splice_Site SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr22:50956005G>A ENST00000395701.3 + 4 360 c.e4-1 NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) TTCTCTCTCAGGCGGGCCAAG 0.632000 30 63 0 0 0.717897 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232607260 232607260 + Silent SNP C C T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr1:232607260C>T ENST00000366630.1 - 7 2458 c.2100G>A c.(2098-2100)agG>agA p.R700R SIPA1L2_ENST00000262861.4_Silent_p.R700R Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 700 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCCTATGTGCCTTTTCCTCA 0.383000 26 66 0 0 0.681144 0 0 LRP1 4035 broad.mit.edu 37 12 57588464 57588464 + Missense_Mutation SNP G G A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr12:57588464G>A ENST00000243077.3 + 50 8639 c.8173G>A c.(8173-8175)Gag>Aag p.E2725K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2725 LDL-receptor class A 15. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGAACATGGCGAGGACGAGAC 0.597000 13 42 0 0 0.435327 0 0 WDR33 55339 broad.mit.edu 37 2 128463958 128463961 + Frame_Shift_Del DEL CTCC CTCC - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr2:128463958_128463961delCTCC ENST00000322313.4 - 22 4105_4108 c.3947_3950delGGAG c.(3946-3951)gtfs p.GS1316fs NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1316 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GTTCATGTTACTCCCTCTACCCCA 0.613 11 187 --- --- --- --- CLK1 1195 broad.mit.edu 37 2 201726490 201726493 + Frame_Shift_Del DEL CTTC CTTC - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr2:201726490_201726493delCTTC ENST00000434813.2 - 2 553_556 c.219_222delGAAG c.(217-222)agfs p.RK73fs CLK1_ENST00000321356.4_Frame_Shift_Del_p.RK31fs|CLK1_ENST00000492793.1_Intron NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 31 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TATGTGATCTCTTCCTTCTTTTAT 0.397 45 166 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26426086 26426088 + In_Frame_Del DEL TTT TTT - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr4:26426086_26426088delTTT ENST00000342320.4 + 6 792_794 c.616_618delTTT c.(616-618)del p.F207del RBPJ_ENST00000507561.1_In_Frame_Del_p.F186del|RBPJ_ENST00000504907.1_In_Frame_Del_p.F207del|RBPJ_ENST00000348160.4_In_Frame_Del_p.F208del|RBPJ_ENST00000355476.3_In_Frame_Del_p.F207del|RBPJ_ENST00000361572.6_In_Frame_Del_p.F221del|RBPJ_ENST00000342295.1_In_Frame_Del_p.F221del|RBPJ_ENST00000345843.3_In_Frame_Del_p.F206del Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 221 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGGGAGCCTTTTTTATTCATC 0.360 28 79 --- --- --- --- MRPS18B 28973 broad.mit.edu 37 6 30587286 30587287 + Frame_Shift_Del DEL TT TT - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr6:30587286_30587287delTT ENST00000259873.4 + 2 252_253 c.95_96delTT c.(94-96)cfs p.L32fs MRPS18B_ENST00000506373.2_Frame_Shift_Del_p.L32fs|MRPS18B_ENST00000472229.1_3'UTR NM_014046.3 NP_054765.1 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B 32 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 CTCCAGACTCTTTGCACCAAAG 0.401 13 81 --- --- --- --- ARL4A 10124 broad.mit.edu 37 7 12728267 12728268 + Frame_Shift_Ins INS - - T TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr7:12728267_12728268insT ENST00000396663.1 + 2 870_871 c.388_389insT c.(388-390)tatfs p.Y130fs ARL4A_ENST00000396664.2_Frame_Shift_Ins_p.Y130fs|ARL4A_ENST00000404894.1_Frame_Shift_Ins_p.Y130fs|ARL4A_ENST00000396662.1_Frame_Shift_Ins_p.Y130fs|ARL4A_ENST00000356797.3_Frame_Shift_Ins_p.Y130fs NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 130 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) AGTCCCTGTACTTATAGTTGCT 0.381 8 82 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131189169 131189171 + In_Frame_Del DEL CTT CTT - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr7:131189169_131189171delCTT ENST00000541194.1 - 9 1839_1841 c.1582_1584delAAG c.(1582-1584)del p.K528del PODXL_ENST00000378555.3_In_Frame_Del_p.K526del|PODXL_ENST00000322985.9_In_Frame_Del_p.K494del|PODXL_ENST00000537928.1_In_Frame_Del_p.K494del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 526 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GGCTGACCACCTTCTTCTCCTGC 0.557 13 129 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77776374 77776377 + Frame_Shift_Del DEL CAAT CAAT - rs76951673 TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr8:77776374_77776377delCAAT ENST00000521891.2 + 11 10872_10875 c.10424_10427delCAAT c.(10423-10428)acfs p.TI3475fs ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.TI3426fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.TI3449fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.TI3430fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3426 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGAGAAAACAATCAAACAAGCA 0.456 HNSCC(33;0.089) 22 45 --- --- --- --- RBM12B 389677 broad.mit.edu 37 8 94745644 94745648 + Frame_Shift_Del DEL TTAAC TTAAC - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr8:94745644_94745648delTTAAC ENST00000399300.2 - 3 3204_3208 c.2991_2995delGTTAA c.(2989-2997)aactfs p.KLT997fs RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.KLT877fs|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 997 RRM 4. nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TACAGCAAAGTTAACTTAACTTTTC 0.332 19 47 --- --- --- --- MELK 9833 broad.mit.edu 37 9 36607659 36607661 + In_Frame_Del DEL AAG AAG - rs35142210 byFrequency TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr9:36607659_36607661delAAG ENST00000543751.1 + 7 704_706 c.559_561delAAG c.(559-561)del p.K188del MELK_ENST00000487398.1_3'UTR|MELK_ENST00000545008.1_In_Frame_Del_p.K149del|MELK_ENST00000541717.1_In_Frame_Del_p.K220del|MELK_ENST00000536987.1_In_Frame_Del_p.K89del|MELK_ENST00000536860.1_In_Frame_Del_p.K172del|MELK_ENST00000538311.1_In_Frame_Del_p.K26del|MELK_ENST00000536329.1_In_Frame_Del_p.K149del|MELK_ENST00000298048.2_In_Frame_Del_p.K220del NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 220 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) GGCTTTATACAAGAAGATTATGG 0.330 7 143 --- --- --- --- PAN2 9924 broad.mit.edu 37 12 56721813 56721813 + Frame_Shift_Del DEL T T - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr12:56721813delT ENST00000425394.2 - 5 993 c.617delA c.(616-618)atfs p.N206fs PAN2_ENST00000548043.1_Frame_Shift_Del_p.N206fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.N206fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.N206fs NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 206 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAAGAAGCGATTTGTCTGTCT 0.512 8 39 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094692 72094694 + In_Frame_Del DEL AAC AAC - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr12:72094692_72094694delAAC ENST00000266673.5 + 6 1522_1524 c.928_930delAAC c.(928-930)del p.N311del NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 311 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CATTCTTGATAACAACGCAGTGA 0.463 11 329 --- --- --- --- C12orf65 91574 broad.mit.edu 37 12 123738357 123738359 + In_Frame_Del DEL AAG AAG - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr12:123738357_123738359delAAG ENST00000253233.1 + 2 780_782 c.136_138delAAG c.(136-138)del p.K47del C12orf65_ENST00000366329.2_In_Frame_Del_p.K47del|C12orf65_ENST00000429587.2_In_Frame_Del_p.K47del|RP11-282O18.3_ENST00000541002.3_RNA NM_152269.4 NP_689482.1 Q9H3J6 CL065_HUMAN chromosome 12 open reading frame 65 47 mitochondrion translation release factor activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199) GATGGCAGGCAAGAAGGACTACC 0.557 10 51 --- --- --- --- UBL3 5412 broad.mit.edu 37 13 30341404 30341406 + In_Frame_Del DEL ACA ACA - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr13:30341404_30341406delACA ENST00000380680.4 - 5 1485_1487 c.340_342delTGT c.(340-342)del p.C114del NM_007106.3 NP_009037.1 O95164 UBL3_HUMAN ubiquitin-like 3 114 intracellular|plasma membrane large_intestine(3)|lung(1) 4 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) ACAGGATTACACAACAATTACTC 0.433 12 38 --- --- --- --- TINF2 26277 broad.mit.edu 37 14 24709491 24709493 + In_Frame_Del DEL TAA TAA - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr14:24709491_24709493delTAA ENST00000267415.7 - 7 1446_1448 c.1105_1107delTTA c.(1105-1107)del p.L369del TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000540705.1_In_Frame_Del_p.L334del|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000399423.4_3'UTR NM_001099274.1 NP_001092744.1 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 369 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) CCCTAGGAGGTAATAATGATAGT 0.498 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 19 81 --- --- --- --- RP11-909M7.3 0 broad.mit.edu 37 14 101439159 101439160 + RNA DEL AT AT - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr14:101439159_101439160delAT ENST00000554693.2 + 0 384 GAGTAAACAAATATATAAGTGA 0.297 9 28 --- --- --- --- PRR25 388199 broad.mit.edu 37 16 863356 863372 + Frame_Shift_Del DEL GGACGCCGGACCGACAC GGACGCCGGACCGACAC - rs113623365 TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr16:863356_863372delGGACGCCGGACCGACAC ENST00000301698.1 + 3 704_720 c.704_720delGGACGCCGGACCGACAC c.(703-720)afs p.RTPDRH235fs NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 235 large_intestine(1)|lung(1)|skin(1) 3 GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA 0.714 3 5 --- --- --- --- PAF1 54623 broad.mit.edu 37 19 39879756 39879758 + In_Frame_Del DEL TCT TCT - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr19:39879756_39879758delTCT ENST00000221265.3 - 7 872_874 c.542_544delAGA c.(541-546)act>a p.KT181del PAF1_ENST00000221266.7_In_Frame_Del_p.KT171del|PAF1_ENST00000595564.1_In_Frame_Del_p.KT171del NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 181 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCCTCAAAAGTCTTCTCAATGGC 0.483 30 105 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42797980 42797981 + Frame_Shift_Del DEL TG TG - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6888be2-4517-41e4-a801-9c915f24e737 96d57c40-fcc5-4dc4-857c-b2d334627206 g.chr19:42797980_42797981delTG ENST00000572681.2 + 17 6821_6822 c.6753_6754delTG c.(6751-6756)tctgfs p.SV2251fs CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1342fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1344fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1344 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) CCTTTGACTCTGTGGACAAGTG 0.693 """Mis, F, S""" oligodendroglioma 32 36 --- --- --- ---