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 ITPR2 3709 broad.mit.edu 37 12 26750054 26750054 + Missense_Mutation SNP C C A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr12:26750054C>A ENST00000381340.3 - 31 4432 c.4016G>T c.(4015-4017)gGt>gTt p.G1339V NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1339 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CACGTCTTCACCCCCATTTAT 0.413000 28 70 2.81731e-10 3.18801e-10 1 1 0 NHP2L1 4809 broad.mit.edu 37 22 42071072 42071072 + Silent SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr22:42071072G>A ENST00000401959.1 - 4 568 c.252C>T c.(250-252)cgC>cgT p.R84R NHP2L1_ENST00000215956.5_Silent_p.R84R|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Silent_p.R84R|NHP2L1_ENST00000402458.1_Silent_p.R88R NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 84 nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 CCTGCTTGGAGCGCACAAACA 0.572000 24 47 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 19 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67759936 67759936 + Missense_Mutation SNP C C G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr18:67759936C>G ENST00000255674.6 - 29 4294 c.4008G>C c.(4006-4008)gaG>gaC p.E1336D RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.E1336D NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1336 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GGGCCATCATCTCATGGGATA 0.443000 3 55 0 0 1 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13400052 13400052 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr17:13400052C>T ENST00000284110.1 - 2 1480 c.683G>A c.(682-684)cGc>cAc p.R228H HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26H NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 228 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GGCCGAGATGCGCGCGGGGGC 0.637000 4 114 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108698424 108698424 + Silent SNP C C A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:108698424C>A ENST00000232603.5 - 24 2497 c.2415G>T c.(2413-2415)tcG>tcT p.S805S MORC1_ENST00000483760.1_Silent_p.S784S NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 805 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.S805S(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AAGACGCTGGCGAAGAAGCAA 0.418000 40 69 1.07121e-22 1.24492e-22 1 1 0 LUC7L3 51747 broad.mit.edu 37 17 48819020 48819020 + Silent SNP C C A rs150132332 TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr17:48819020C>A ENST00000505658.1 + 5 543 c.354C>A c.(352-354)gcC>gcA p.A118A LUC7L3_ENST00000393227.2_Silent_p.A118A|LUC7L3_ENST00000240304.1_Silent_p.A118A|LUC7L3_ENST00000544170.1_Silent_p.A42A O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 118 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 TTCAATAGGCCGCTGGCCCAA 0.328000 13 20 3.27435e-08 3.61018e-08 1 1 0 CLASP1 23332 broad.mit.edu 37 2 122176233 122176233 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr2:122176233C>T ENST00000263710.4 - 23 2674 c.2285G>A c.(2284-2286)cGa>cAa p.R762Q CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 762 Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GCTTGTATCTCGGCTGCTCTC 0.597000 26 54 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106927107 106927107 + Splice_Site SNP G G T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr10:106927107G>T ENST00000369701.3 + 13 2128 c.1901_splice c.e13+1 p.W634_splice NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 634 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGGCATTTGTGGTAAGGAGAG 0.458000 19 25 9.7654e-05 0.000102418 1 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232596796 232596796 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr1:232596796C>T ENST00000366630.1 - 9 3290 c.2932G>A c.(2932-2934)Ggc>Agc p.G978S SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G978S|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G52S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 978 PDZ. 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) CAGGCAAAGCCAAAAGGTTCC 0.572000 5 70 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112358730 112358730 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:112358730C>T ENST00000206423.3 - 2 976 c.23G>A c.(22-24)cGt>cAt p.R8H CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Missense_Mutation_p.R8H NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 8 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CATAGTGAAACGGGGTCCCAT 0.488000 18 31 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158257586 158257586 + Missense_Mutation SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr4:158257586G>A ENST00000296526.7 + 11 1856 c.1531G>A c.(1531-1533)Gac>Aac p.D511N GRIA2_ENST00000393815.2_Missense_Mutation_p.D464N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D464N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D464N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D511N NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 511 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGAGGTGATTGACTTCTCAAA 0.413000 64 72 0 0 1 0 0 C1orf200 644997 broad.mit.edu 37 1 9714344 9714344 + Missense_Mutation SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr1:9714344G>A ENST00000377320.3 - 1 300 c.151C>T c.(151-153)Cgc>Tgc p.R51C PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron chromosome 1 open reading frame 200 endometrium(1)|large_intestine(2)|lung(5)|pancreas(1) 9 all_lung(157;0.222) Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419) GCGTTTCTGCGTTTCTGCAGC 0.542000 15 20 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 30 50 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124350193 124350193 + Missense_Mutation SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr10:124350193G>A ENST00000368909.3 + 18 2226 c.2120G>A c.(2119-2121)cGg>cAg p.R707Q DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.R697Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.R707Q NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 707 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCCCAGTCCCGGTCGACGCCC 0.522000 86 128 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394648 164394648 + Missense_Mutation SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr4:164394648G>A ENST00000280605.3 - 1 399 c.239C>T c.(238-240)gCt>gTt p.A80V NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 80 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGGATAGGAGCAGCATGTCC 0.532000 12 18 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136858 40136858 + Missense_Mutation SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr11:40136858G>A ENST00000278198.2 - 2 2948 c.985C>T c.(985-987)Cgg>Tgg p.R329W LRRC4C_ENST00000528697.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R329W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R329W Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 329 LRRCT. regulation of axonogenesis integral to membrane protein binding p.R329W(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGTTACACCGGGCACAACAA 0.502000 21 22 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183210395 183210395 + Missense_Mutation SNP T T G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:183210395T>G ENST00000341319.3 - 6 1486 c.1451A>C c.(1450-1452)gAc>gCc p.D484A NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 484 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CTGAGTCTTGTCTGTGGCCAG 0.557000 23 40 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19356150 19356150 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr19:19356150C>T ENST00000252575.5 + 13 3564 c.3521C>T c.(3520-3522)cCg>cTg p.P1174L NCAN_ENST00000538881.1_Missense_Mutation_p.P625L NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1174 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GAGAACCAGCCGGACAATTTC 0.572000 8 30 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49081347 49081347 + Missense_Mutation SNP A A C TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chrX:49081347A>C ENST00000376265.2 - 14 1847 c.1786T>G c.(1786-1788)Ttt>Gtt p.F596V CACNA1F_ENST00000323022.5_Missense_Mutation_p.F585V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F531V NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 596 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) AAGCAGTCAAAGCGGTTGAAG 0.557000 5 1 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648895 130648895 + Missense_Mutation SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr12:130648895G>A ENST00000539839.1 + 1 1892 c.1310G>A c.(1309-1311)gGa>gAa p.G437E FZD10_ENST00000229030.4_Missense_Mutation_p.D470N NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCTCAACATGGATTACTGGAA 0.567000 7 33 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26139203 26139203 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr1:26139203C>T ENST00000361547.2 + 10 1362 c.1307C>T c.(1306-1308)gCc>gTc p.A436V SEPN1_ENST00000374315.1_Missense_Mutation_p.A402V|SEPN1_ENST00000354177.4_Missense_Mutation_p.A402V NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 436 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) TTCACTGAGGCCTTCGACCGA 0.627000 8 18 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18497099 18497099 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr11:18497099C>T ENST00000280706.2 + 4 1302 c.505C>T c.(505-507)Cgt>Tgt p.R169C TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R169C NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 169 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) GGACTCTGCTCGTTTTCGTTA 0.453000 46 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179417860 179417860 + Missense_Mutation SNP A A G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr2:179417860A>G ENST00000589042.1 - 335 89991 c.89767T>C c.(89767-89769)Tct>Cct p.S29923P TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28282P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27355P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20858P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21050P|TTN_ENST00000359218.5_Missense_Mutation_p.S20983P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28282 Fibronectin type-III 118. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACAGTTGAAGACTTAGGTTCA 0.418000 31 35 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007227 6007227 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr11:6007227C>T ENST00000332249.4 - 1 988 c.934G>A c.(934-936)Gtg>Atg p.V312M NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAGTCTTCACTCCATAGACA 0.493000 4 9 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29687577 29687577 + Missense_Mutation SNP A A G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr22:29687577A>G ENST00000397938.2 + 9 1320 c.1001A>G c.(1000-1002)aAt>aGt p.N334S EWSR1_ENST00000414183.2_Missense_Mutation_p.N339S|EWSR1_ENST00000332035.6_Missense_Mutation_p.N278S|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.N333S NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 334 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGTGGCTTCAATAAGCCTGGT 0.413000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 11 15 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53157857 53157857 + Splice_Site SNP C C G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:53157857C>G ENST00000296292.3 - 3 211 c.e3-1 RFT1_ENST00000394738.3_Intron NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) CAGCGTTAGTCTGTAAATGAA 0.493000 14 29 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46111175 46111175 + Missense_Mutation SNP G G T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr6:46111175G>T ENST00000321037.4 + 4 1390 c.1160G>T c.(1159-1161)gGg>gTg p.G387V NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 387 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CCCAATAATGGGACCTTTGGT 0.423000 7 95 1.06961e-07 1.14983e-07 1 1 0 VN1R2 317701 broad.mit.edu 37 19 53762473 53762473 + Missense_Mutation SNP G G T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr19:53762473G>T ENST00000341702.3 + 1 929 c.845G>T c.(844-846)aGc>aTc p.S282I VN1R2_ENST00000598458.1_3'UTR NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 282 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TGGGCCAGCAGCTCCATCGTT 0.483000 54 74 4.25531e-23 5.08274e-23 1 1 0 GPR6 0 broad.mit.edu 37 6 110300979 110300979 + Missense_Mutation SNP C C G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr6:110300979C>G ENST00000414000.2 + 3 948 c.709C>G c.(709-711)Ctg>Gtg p.L237V GPR6_ENST00000275169.3_Missense_Mutation_p.L222V P46095 GPR6_HUMAN G protein-coupled receptor 6 222 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GGTGCGCCCGCTGGCGCGCAG 0.697000 8 3 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49700629 49700629 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:49700629C>T ENST00000296452.4 + 7 11152 c.11038C>T c.(11038-11040)Cgg>Tgg p.R3680W NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3680 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCATGAGGCCCGGCCCCACTC 0.667000 10 14 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122093 39122093 + Missense_Mutation SNP C C T TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr22:39122093C>T ENST00000216044.5 + 7 1389 c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 386 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCTCTCCCCCCGCACCAGCTA 0.567000 33 49 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C G rs121913416 TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:41266101C>G ENST00000349496.5 + 3 378 c.98C>G c.(97-99)tCt>tGt p.S33C CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 33 Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TACCTGGACTCTGGAATCCAT 0.488000 S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 14 29 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119535462 119535462 + Missense_Mutation SNP C C A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr11:119535462C>A ENST00000264025.3 - 6 2079 c.1549G>T c.(1549-1551)Gtg>Ttg p.V517L PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 517 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GGGGGCTACACGTACCACTCC 0.627000 3 27 0.115264 0.115264 1 1 0 LRRIQ4 344657 broad.mit.edu 37 3 169539973 169539973 + Silent SNP G G A TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr3:169539973G>A ENST00000340806.6 + 1 264 c.264G>A c.(262-264)ccG>ccA p.P88P NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 88 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GCCTGTGCCCGGCGCTGGGGC 0.562000 36 55 0 0 1 0 0 RPL11 6135 broad.mit.edu 37 1 24021277 24021277 + Missense_Mutation SNP A A G TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr1:24021277A>G ENST00000374550.3 + 4 437 c.392A>G c.(391-393)tAt>tGt p.Y131C RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 131 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) CTGGACTTCTATGTGGTATGA 0.423000 5 100 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24976513 24976513 + Frame_Shift_Del DEL A A - TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr1:24976513delA ENST00000323848.9 + 5 772 c.457delA c.(457-459)aafs p.K153fs SRRM1_ENST00000374389.4_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Frame_Shift_Del_p.K153fs|SRRM1_ENST00000537199.1_Frame_Shift_Del_p.K52fs NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 153 Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AGACAAAGATAAAAGAGATAA 0.358 8 7 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 8 4 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061233 38061244 + In_Frame_Del DEL GTTGCCGGAGTC GTTGCCGGAGTC - TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr14:38061233_38061244delGTTGCCGGAGTC ENST00000250448.2 - 2 806_817 c.745_756delGACTCCGGCAAC c.(745-756)del p.DSGN249del FOXA1_ENST00000540786.1_In_Frame_Del_p.DSGN216del|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 249 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TCTCGAACATGTTGCCGGAGTCCGGGTGCAGC 0.679 9 13 --- --- --- --- BBS2 583 broad.mit.edu 37 16 56531771 56531771 + Frame_Shift_Del DEL T T - TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr16:56531771delT ENST00000245157.5 - 14 2101 c.1681delA c.(1681-1683)ttfs p.I561fs BBS2_ENST00000568104.1_Intron NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 561 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 GCCAAATCAATATCATCAGTA 0.358 Bardet-Biedl syndrome 22 54 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798764 7798765 + Frame_Shift_Ins INS - - C TCGA-M7-A722-01A-12D-A364-08 TCGA-M7-A722-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381e0605-cb54-4ef9-96da-4b9f3ce37cff 14d6a96e-cd7c-4429-adb8-2a6c9ddf22c3 g.chr17:7798764_7798765insC ENST00000380358.4 + 10 1789_1790 c.1788_1789insC c.(1786-1791)ccccccfs p.PP596fs CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTCC 0.574 38 57 --- --- --- ---