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 MBD6 0 broad.mit.edu 37 12 57921648 57921648 + Missense_Mutation SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:57921648A>G ENST00000355673.3 + 9 2610 c.2254A>G c.(2254-2256)Acc>Gcc p.T752A MBD6_ENST00000431731.2_Missense_Mutation_p.T752A NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 752 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GTCTTCACTGACCAGCAGCCC 0.577000 3 238 0 0 0.115264 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 149 0 0 0.115264 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908072 140908072 + Silent SNP G G C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr5:140908072G>C ENST00000253811.6 - 23 3239 c.3099C>G c.(3097-3099)ccC>ccG p.P1033P DIAPH1_ENST00000518047.1_Silent_p.P1020P|DIAPH1_ENST00000389057.5_Silent_p.P1023P|DIAPH1_ENST00000398562.2_Silent_p.P1008P|DIAPH1_ENST00000520569.1_Silent_p.P975P|DIAPH1_ENST00000398557.4_Silent_p.P1032P|DIAPH1_ENST00000398566.3_Silent_p.P1024P|DIAPH1_ENST00000389054.3_Silent_p.P1029P O60610 DIAP1_HUMAN diaphanous-related formin 1 1032 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGGACATCGGGATAGTCAT 0.498000 30 41 0 0 0.116897 0 0 ABCA5 23461 broad.mit.edu 37 17 67287453 67287453 + Missense_Mutation SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr17:67287453T>C ENST00000392676.3 - 12 1574 c.1510A>G c.(1510-1512)Ata>Gta p.I504V ABCA5_ENST00000588877.1_Missense_Mutation_p.I504V|ABCA5_ENST00000392677.2_Missense_Mutation_p.I504V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 504 ABC transporter 1. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCCTCATATATGTCAAATGAC 0.363000 9 38 0 0 0.069234 0 0 MYO10 4651 broad.mit.edu 37 5 16769308 16769308 + Missense_Mutation SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr5:16769308G>A ENST00000513610.1 - 10 1389 c.935C>T c.(934-936)gCa>gTa p.A312V NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 312 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CACGTCCATTGCCGTCTAGAA 0.373000 14 8 0 0 0.105934 0 0 MED23 9439 broad.mit.edu 37 6 131926420 131926420 + Missense_Mutation SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr6:131926420T>C ENST00000403834.3 - 14 1764 c.1591A>G c.(1591-1593)Atg>Gtg p.M531V MED23_ENST00000368068.3_Missense_Mutation_p.M525V|MED23_ENST00000354577.4_Missense_Mutation_p.M531V|MED23_ENST00000368060.3_Missense_Mutation_p.M525V|MED23_ENST00000540546.1_Missense_Mutation_p.M531V|MED23_ENST00000368058.1_Missense_Mutation_p.M531V|MED23_ENST00000545957.1_Missense_Mutation_p.M166V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.M531V Q9ULK4 MED23_HUMAN mediator complex subunit 23 525 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AGGAGGTTCATAGGTAAGGGG 0.393000 3 85 0 0 0.009096 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 5 69 0 0 0.014758 0 0 BNIP3P1 0 broad.mit.edu 37 14 28733965 28733965 + RNA SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr14:28733965G>A ENST00000550043.1 + 0 370 AGCCCACCTCGCTCACAGACA 0.453000 28 89 0 0 0.099896 0 0 WDR5B 54554 broad.mit.edu 37 3 122134317 122134317 + Missense_Mutation SNP T T G rs144433176 byFrequency TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr3:122134317T>G ENST00000330689.4 - 1 565 c.59A>C c.(58-60)aAt>aCt p.N20T NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 20 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) CTTGCTCTGATTGGCCGATGA 0.498000 76 103 0 0 0.139131 0 0 PLB1 151056 broad.mit.edu 37 2 28808648 28808648 + Missense_Mutation SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr2:28808648T>C ENST00000422425.2 + 25 1765 c.1721T>C c.(1720-1722)cTg>cCg p.L574P PLB1_ENST00000329020.6_Missense_Mutation_p.L273P|PLB1_ENST00000327757.5_Missense_Mutation_p.L585P NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 585 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCCTGTGTCCTGAAGTTTGAT 0.468000 3 99 0 0 0.009096 0 0 DACH1 1602 broad.mit.edu 37 13 72204797 72204797 + Silent SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr13:72204797A>G ENST00000305425.4 - 3 1445 c.1023T>C c.(1021-1023)gcT>gcC p.A341A DACH1_ENST00000359684.2_Silent_p.A341A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.A341A NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 339 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCATTGCTTcagcaatagctg 0.393000 3 208 0 0 0.115264 0 0 CASP4 837 broad.mit.edu 37 11 104825694 104825694 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr11:104825694C>T ENST00000444739.2 - 2 952 c.42G>A c.(40-42)ttG>ttA p.L14L CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 14 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) CCAGGGATTCCAACACCTTAA 0.388000 27 63 0 0 0.116897 0 0 GCN1L1 10985 broad.mit.edu 37 12 120572142 120572142 + Missense_Mutation SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:120572142G>A ENST00000300648.6 - 53 7282 c.7270C>T c.(7270-7272)Cgg>Tgg p.R2424W NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2424 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGTTTTTCCGGATGACGGCA 0.592000 10 98 0 0 0.105934 0 0 SNX22 79856 broad.mit.edu 37 15 64446698 64446698 + Silent SNP G G A rs143435068 by1000genomes TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr15:64446698G>A ENST00000325881.4 + 7 632 c.573G>A c.(571-573)ccG>ccA p.P191P NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 191 P -> L (in Ref. 2; BAB14776). cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding large_intestine(3)|lung(1)|urinary_tract(2) 6 CTCTGCCACCGATGCCCTGAT 0.572000 129 134 0 0 0.139131 0 0 PRG4 10216 broad.mit.edu 37 1 186276474 186276474 + Silent SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr1:186276474T>C ENST00000445192.2 + 7 1668 c.1623T>C c.(1621-1623)acT>acC p.T541T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T498T|PRG4_ENST00000367483.4_Silent_p.T500T|PRG4_ENST00000367485.4_Silent_p.T448T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 541 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTACCAAGTCTG 0.637000 6 122 0 0 0.047766 0 0 OR1J2 26740 broad.mit.edu 37 9 125273586 125273586 + Missense_Mutation SNP G G T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr9:125273586G>T ENST00000335302.5 + 1 506 c.506G>T c.(505-507)tGt>tTt p.C169F NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTGTCTTTCTGTGCTGCGAAC 0.522000 23 148 2.44723e-14 3.05904e-14 0.099896 1 0 LRRC56 115399 broad.mit.edu 37 11 552111 552111 + Missense_Mutation SNP C C G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr11:552111C>G ENST00000270115.7 + 12 1560 c.1060C>G c.(1060-1062)Ctg>Gtg p.L354V NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 354 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCCGAGCAGCTGCCCCAACA 0.677000 33 84 0 0 0.059317 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 61 0 0 0.009096 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279994 39279994 + Silent SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr17:39279994T>C ENST00000394014.1 - 1 425 c.381A>G c.(379-381)agA>agG p.R127R NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 127 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. Missing (in allele KAP4.12-v1). keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) agcactggggtctgcagcagc 0.667000 4 81 0 0 0.009096 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352245 59352245 + Missense_Mutation SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr8:59352245A>G ENST00000399598.2 + 6 709 c.587A>G c.(586-588)gAt>gGt p.D196G NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 196 SEP. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GTGAATTTGGATATGGAGGAT 0.383000 20 119 0 0 0.055883 0 0 ZNF318 24149 broad.mit.edu 37 6 43325106 43325106 + Nonsense_Mutation SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr6:43325106G>A ENST00000361428.2 - 3 1023 c.946C>T c.(946-948)Cga>Tga p.R316* ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R316* NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 316 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding p.R316*(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCCAGTTCTCGAAACTCAGGG 0.522000 16 55 0 0 0.146539 0 0 FBN3 84467 broad.mit.edu 37 19 8196578 8196578 + Missense_Mutation SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:8196578C>T ENST00000600128.1 - 15 2264 c.1850G>A c.(1849-1851)cGc>cAc p.R617H FBN3_ENST00000601739.1_Missense_Mutation_p.R617H|FBN3_ENST00000270509.2_Missense_Mutation_p.R617H Q75N90 FBN3_HUMAN fibrillin 3 617 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCAGGTGCTGCGCACGTGGGT 0.677000 14 62 0 0 0.105934 0 0 MLLT10 8028 broad.mit.edu 37 10 22022990 22022990 + Silent SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr10:22022990T>C ENST00000377072.3 + 21 3186 c.2838T>C c.(2836-2838)ccT>ccC p.P946P MLLT10_ENST00000307729.7_Silent_p.P930P|MLLT10_ENST00000446906.2_Silent_p.P930P|MLLT10_ENST00000377059.3_Silent_p.P930P NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 946 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CCCAGAACCCTACCCCTCTCA 0.438000 T """MLL, PICALM, CDK6""" AL 3 81 0 0 0.115264 0 0 PRSS53 339105 broad.mit.edu 37 16 31096483 31096483 + Nonsense_Mutation SNP C C A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr16:31096483C>A ENST00000280606.6 - 7 1135 c.982G>T c.(982-984)Gga>Tga p.G328* NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 328 Peptidase S1 2. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 ACCAGGGCTCCGCCACAGGCC 0.667000 3 22 0.115264 0.134883 0.115264 1 0 LRRC16B 90668 broad.mit.edu 37 14 24538027 24538027 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr14:24538027C>T ENST00000342740.5 + 38 3988 c.3834C>T c.(3832-3834)ccC>ccT p.P1278P LRRC16B_ENST00000334420.7_Silent_p.P331P NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1278 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CATGGCCTCCCAAGCCAGTGG 0.637000 9 32 0 0 0.069234 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 68 0 0 0.009096 0 0 SLC12A5 57468 broad.mit.edu 37 20 44666024 44666024 + Splice_Site SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr20:44666024G>A ENST00000454036.1 + 6 757 c.681_splice c.e6+1 p.L227_splice SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Splice_Site_p.L204_splice|SLC12A5_ENST00000372315.1_Splice_Site_p.L204_splice NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 227 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAATCCTGCTGGTAAGAGAGG 0.582000 3 37 0 0 0.115264 0 0 CAMKK2 10645 broad.mit.edu 37 12 121706441 121706441 + Splice_Site SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:121706441G>A ENST00000324774.5 - 5 1453 c.625_splice c.e5+1 p.R209_splice CAMKK2_ENST00000402834.4_Splice_Site_p.R209_splice|CAMKK2_ENST00000347034.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000337174.3_Splice_Site_p.R209_splice|CAMKK2_ENST00000392474.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000446440.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000412367.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000404169.3_Splice_Site_p.R209_splice|CAMKK2_ENST00000392473.2_Splice_Site_p.R209_splice|CAMKK2_ENST00000538733.1_Splice_Site_p.R209_splice NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 209 Protein kinase.|RP domain. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAAACTCACGTGGAAAGCCG 0.552000 114 154 0 0 0.139131 0 0 PTCHD2 57540 broad.mit.edu 37 1 11562935 11562935 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr1:11562935C>T ENST00000294484.6 + 3 1435 c.1297C>T c.(1297-1299)Ctg>Ttg p.L433L PTCHD2_ENST00000389575.3_Silent_p.L433L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 433 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.L650L(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CGTGGCCATGCTGGCCAAGCA 0.522000 3 70 0 0 0.009096 0 0 ENPP2 0 broad.mit.edu 37 8 120650732 120650732 + Silent SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr8:120650732A>G ENST00000427067.2 - 2 237 c.57T>C c.(55-57)aaT>aaC p.N19N ENPP2_ENST00000522826.1_Silent_p.N23N|ENPP2_ENST00000075322.6_Silent_p.N23N|ENPP2_ENST00000259486.6_Silent_p.N23N Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 23 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTAAGCAGATATTGACTCCAA 0.378000 38 128 0 0 0.131918 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 16 0 0 0.115264 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999781 45999781 + Silent SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr21:45999781G>A ENST00000400372.1 - 1 700 c.675C>T c.(673-675)tgC>tgT p.C225C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 225 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 ATATGGGGCGGCAGAGGAGGG 0.682000 4 165 0 0 0.014758 0 0 CACTIN 58509 broad.mit.edu 37 19 3612148 3612148 + Missense_Mutation SNP C C A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:3612148C>A ENST00000429344.2 - 10 2102 c.2050G>T c.(2050-2052)Gac>Tac p.D684Y CACTIN_ENST00000248420.5_Missense_Mutation_p.D684Y|CACTIN_ENST00000221899.3_Missense_Mutation_p.D616Y|CACTIN-AS1_ENST00000592274.1_RNA NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit TCGATGAGGTCGGGGTAGAAG 0.592000 47 190 9.58827e-17 1.22641e-16 0.139131 1 0 GPR155 151556 broad.mit.edu 37 2 175335223 175335223 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr2:175335223C>T ENST00000392552.2 - 4 1159 c.921G>A c.(919-921)gtG>gtA p.V307V GPR155_ENST00000392551.2_Silent_p.V307V|GPR155_ENST00000295500.4_Silent_p.V307V NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 307 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 TATGGTTCACCACACTGTCGC 0.408000 5 54 0 0 0.029380 0 0 CCL24 6369 broad.mit.edu 37 7 75441263 75441263 + Missense_Mutation SNP G G C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr7:75441263G>C ENST00000416943.1 - 4 304 c.211C>G c.(211-213)Cag>Gag p.Q71E CCL24_ENST00000222902.2_Missense_Mutation_p.Q71E NM_002991.2 NP_002982.2 O00175 CCL24_HUMAN chemokine (C-C motif) ligand 24 71 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 CAGAACTGCTGGCCCTTCTTG 0.612000 3 97 0 0 0.115264 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 65 50 0 0 0.139131 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 3 24 0 0 0.115264 0 0 TUFT1 7286 broad.mit.edu 37 1 151542172 151542172 + Missense_Mutation SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr1:151542172A>G ENST00000368849.3 + 7 582 c.520A>G c.(520-522)Aag>Gag p.K174E TUFT1_ENST00000392712.3_Missense_Mutation_p.K119E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K149E|TUFT1_ENST00000538902.1_Missense_Mutation_p.K193E|TUFT1_ENST00000353024.3_Missense_Mutation_p.K115E NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 174 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAGCTTGAGGAAGACGGTGCA 0.517000 4 419 0 0 0.014758 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957538 50957538 + Silent SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:50957538G>A ENST00000357701.5 + 18 1977 c.1926G>A c.(1924-1926)ccG>ccA p.P642P NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 642 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CAGACCCCCCGGAGGCTGTGC 0.647000 6 65 0 0 0.021553 0 0 BEND6 221336 broad.mit.edu 37 6 56883337 56883337 + Missense_Mutation SNP T T A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr6:56883337T>A ENST00000370746.3 + 6 1100 c.831T>A c.(829-831)gaT>gaA p.D277E BEND6_ENST00000545789.1_Missense_Mutation_p.D179E|BEND6_ENST00000370750.2_3'UTR NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 277 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 ACTCTCAGGATATTAAATAGA 0.313000 18 32 0 0 0.033300 0 0 EHD2 30846 broad.mit.edu 37 19 48244668 48244668 + Silent SNP C C A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:48244668C>A ENST00000263277.3 + 6 1862 c.1611C>A c.(1609-1611)cgC>cgA p.R537R EHD2_ENST00000538399.1_Silent_p.R401R|EHD2_ENST00000540884.1_3'UTR NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 537 EH. blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CCAAGCGACGCCACAAGGGCT 0.716000 9 9 3.09899e-07 3.78765e-07 0.047766 1 0 PTGDR2 11251 broad.mit.edu 37 11 60620166 60620167 + In_Frame_Ins INS - - GCG rs55642873 TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr11:60620166_60620167insGCG ENST00000332539.4 - 2 1140_1141 c.1029_1030insCGC c.(1027-1032)cgcctc>cgCGCcctc p.343_344RL>RAL NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 343 immune response integral to plasma membrane N-formyl peptide receptor activity GTGGAGGAGGTGCGGCGGCGGC 0.748 4 3 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gag>g p.EQ906del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 906 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 4 6 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39923030 39923031 + Frame_Shift_Ins INS - - T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chrX:39923030_39923031insT ENST00000342274.4 - 8 3937_3938 c.3575_3576insA c.(3574-3576)gggfs p.G1192fs BCOR_ENST00000397354.3_Frame_Shift_Ins_p.G1192fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.G1174fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.G1226fs|BCOR_ENST00000378463.1_Frame_Shift_Ins_p.G69fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1226 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CAGGTTTGCCATCTGCTGCCGA 0.540 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 59 42 --- --- --- ---