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 LPAR3 23566 broad.mit.edu 37 1 85279571 85279571 + Silent SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:85279571A>G ENST00000440886.1 - 2 1058 c.1020T>C c.(1018-1020)gaT>gaC p.D340D LPAR3_ENST00000370611.3_Silent_p.D340D Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 340 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GGCTAATACTATCCTCTATGT 0.537000 5 51 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97181826 97181826 + Missense_Mutation SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:97181826C>G ENST00000371247.2 - 8 522 c.333G>C c.(331-333)gaG>gaC p.E111D SORBS1_ENST00000371227.4_Missense_Mutation_p.E111D|SORBS1_ENST00000306402.6_Missense_Mutation_p.E111D|SORBS1_ENST00000371239.1_Missense_Mutation_p.E79D|SORBS1_ENST00000361941.3_Missense_Mutation_p.E111D|SORBS1_ENST00000607232.1_Missense_Mutation_p.E79D|SORBS1_ENST00000347291.4_Missense_Mutation_p.E102D|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Missense_Mutation_p.E79D|SORBS1_ENST00000371246.2_Missense_Mutation_p.E111D|SORBS1_ENST00000353505.5_Missense_Mutation_p.E111D|SORBS1_ENST00000393949.1_Missense_Mutation_p.E102D|SORBS1_ENST00000371245.3_Missense_Mutation_p.E111D|SORBS1_ENST00000354106.3_Missense_Mutation_p.E102D|SORBS1_ENST00000371241.1_Missense_Mutation_p.E70D|SORBS1_ENST00000277982.5_Missense_Mutation_p.E111D Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 111 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AAAGCCTCCACTCATCTGAGA 0.512000 5 37 0 0 1 0 0 TUBB2B 347733 broad.mit.edu 37 6 3224999 3224999 + Missense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr6:3224999C>T ENST00000259818.7 - 4 1515 c.1324G>A c.(1324-1326)Gag>Aag p.E442K TUBB2B_ENST00000473006.1_5'UTR NM_178012.4 NP_821080.1 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B class IIb 442 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) GCCTCGTCCTCGCCCTCCTCC 0.652000 45 63 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22866721 22866721 + Missense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr15:22866721C>T ENST00000283645.4 + 17 2463 c.2333C>T c.(2332-2334)tCt>tTt p.S778F TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S778F NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 778 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TTTAGTCTATCTATATCTTTT 0.323000 12 20 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61676955 61676955 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr5:61676955G>A ENST00000381103.2 + 20 2335 c.1850G>A c.(1849-1851)cGg>cAg p.R617Q KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Missense_Mutation_p.R637Q|KIF2A_ENST00000506857.1_Missense_Mutation_p.R591Q|KIF2A_ENST00000407818.3_Missense_Mutation_p.R675Q NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 637 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GAATCTATTCGGTGGTTAGAA 0.328000 31 33 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75921396 75921396 + Missense_Mutation SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:75921396C>G ENST00000321027.3 - 6 1124 c.991G>C c.(991-993)Gaa>Caa p.E331Q GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.E293Q NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 331 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ATTAAATTTTCCACATAAATT 0.294000 7 76 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37586432 37586432 + Missense_Mutation SNP T T G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr21:37586432T>G ENST00000399151.3 + 8 1043 c.958T>G c.(958-960)Tat>Gat p.Y320D NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 320 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCAAATTCTTATGAAGACCA 0.393000 29 91 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29760111 29760111 + RNA SNP G G C rs114604530 byFrequency TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr6:29760111G>C ENST00000457107.1 + 0 83 GGGAAACGGCGTCTGTGGGGA 0.716000 3 18 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94526191 94526191 + Missense_Mutation SNP T T A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:94526191T>A ENST00000370225.3 - 14 2148 c.2062A>T c.(2062-2064)Aat>Tat p.N688Y ABCA4_ENST00000535735.1_Missense_Mutation_p.N688Y NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 688 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ACACCCTGATTTTTCAAGGTC 0.478000 18 56 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52257297 52257297 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr3:52257297G>A ENST00000494383.1 - 5 1494 c.1495C>T c.(1495-1497)Cca>Tca p.P499S TLR9_ENST00000360658.2_Silent_p.Y345Y|TLR9_ENST00000597542.1_Silent_p.Y369Y Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCCTCTTTTGGTAATTGAAGG 0.547000 33 60 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 6 13 0.00198382 0.00205467 1 1 0 MAST2 23139 broad.mit.edu 37 1 46495140 46495140 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:46495140G>A ENST00000361297.2 + 19 2504 c.2221G>A c.(2221-2223)Gag>Aag p.E741K MAST2_ENST00000477968.1_3'UTR|MAST2_ENST00000372009.2_Missense_Mutation_p.E671K|MAST2_ENST00000372008.1_Missense_Mutation_p.E626K NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 741 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GACTTCAGATGAGATTGTGTG 0.547000 12 38 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183940 55183940 + Missense_Mutation SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr17:55183940C>A ENST00000337714.3 + 2 1348 c.1115C>A c.(1114-1116)gCa>gAa p.A372E AKAP1_ENST00000571629.1_Missense_Mutation_p.A372E|AKAP1_ENST00000314126.3_Missense_Mutation_p.A372E|AKAP1_ENST00000539273.1_Missense_Mutation_p.A372E|AKAP1_ENST00000572557.1_Missense_Mutation_p.A372E NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 372 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GGCAAGGTTGCAGGTCGTGTG 0.552000 30 84 2.65835e-16 3.11483e-16 1 1 0 HAO1 54363 broad.mit.edu 37 20 7875803 7875803 + Missense_Mutation SNP G G C rs141975454 TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr20:7875803G>C ENST00000378789.3 - 5 841 c.790C>G c.(790-792)Caa>Gaa p.Q264E NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 264 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCATCGAGTTGTCGAGCCCCA 0.478000 11 96 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41811594 41811594 + Missense_Mutation SNP A A C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:41811594A>C ENST00000392006.3 + 14 2449 c.2276A>C c.(2275-2277)cAg>cCg p.Q759P HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.Q659P|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.Q659P|HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.Q669P|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.Q655P|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.Q670P NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 759 Necessary for interaction with TP53.|Pro-rich.|Tyr-rich. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 AGTTACAGCCAGCCACCCTAC 0.542000 20 84 0 0 1 0 0 MIER3 166968 broad.mit.edu 37 5 56219657 56219657 + Missense_Mutation SNP G G C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr5:56219657G>C ENST00000381226.3 - 12 1086 c.1071C>G c.(1069-1071)gaC>gaG p.D357E MIER3_ENST00000381199.3_Missense_Mutation_p.D352E|MIER3_ENST00000381213.3_Missense_Mutation_p.D351E|MIER3_ENST00000409421.1_Missense_Mutation_p.D289E|SETD9_ENST00000541720.1_Intron Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family member 3 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1) 19 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) GATCCATATAGTCCCTGAAAA 0.418000 69 156 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2213959 2213959 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:2213959G>A ENST00000398665.3 + 18 1807 c.1771G>A c.(1771-1773)Gcg>Acg p.A591T DOT1L_ENST00000586024.1_3'UTR|AC004490.1_ENST00000585593.1_RNA NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 591 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) 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) GGACAACCGCGCGCTCCGCGG 0.677000 10 24 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102748608 102748608 + Nonsense_Mutation SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:102748608C>G ENST00000370228.1 + 1 826 c.641C>G c.(640-642)tCa>tGa p.S214* C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Nonsense_Mutation_p.S214* NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 214 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) CCTGGGGGCTCAGGATTACGA 0.557000 14 64 0 0 1 0 0 COL13A1 1305 broad.mit.edu 37 10 71654450 71654450 + Missense_Mutation SNP G G C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:71654450G>C ENST00000356340.3 + 10 1159 c.623G>C c.(622-624)gGa>gCa p.G208A COL13A1_ENST00000354547.3_Missense_Mutation_p.G208A|COL13A1_ENST00000398964.3_Missense_Mutation_p.G179A|COL13A1_ENST00000357811.3_Missense_Mutation_p.G208A|COL13A1_ENST00000520267.1_Missense_Mutation_p.G170A|COL13A1_ENST00000398978.3_Missense_Mutation_p.G208A|COL13A1_ENST00000398968.3_Missense_Mutation_p.G208A|COL13A1_ENST00000398973.3_Missense_Mutation_p.G208A|COL13A1_ENST00000517713.1_Missense_Mutation_p.G208A|COL13A1_ENST00000398966.3_Missense_Mutation_p.G208A|COL13A1_ENST00000398972.3_Missense_Mutation_p.G208A|COL13A1_ENST00000398974.3_Missense_Mutation_p.G196A|COL13A1_ENST00000398971.3_Missense_Mutation_p.G208A|COL13A1_ENST00000398969.3_Missense_Mutation_p.G170A|COL13A1_ENST00000520133.1_Missense_Mutation_p.G179A|COL13A1_ENST00000522165.1_Missense_Mutation_p.G208A Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 208 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding p.G191E(1)|p.G208E(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGACAAAAAGGAGAAAAGGTA 0.463000 5 77 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113688419 113688419 + Nonsense_Mutation SNP G G T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr11:113688419G>T ENST00000003302.4 - 13 1492 c.1424C>A c.(1423-1425)tCa>tAa p.S475* USP28_ENST00000537706.1_Nonsense_Mutation_p.S475*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S475*|USP28_ENST00000544967.1_Nonsense_Mutation_p.S183*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S350* NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 475 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GCAGTGCACTGAAGAAAGTGG 0.363000 9 70 7.48243e-07 8.11179e-07 1 1 0 SLC9A7 84679 broad.mit.edu 37 X 46618198 46618198 + Missense_Mutation SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:46618198C>G ENST00000328306.4 - 1 292 c.267G>C c.(265-267)tgG>tgC p.W89C NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 89 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GCTTGAAGAGCCAGATGGTGA 0.637000 10 37 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138450767 138450767 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr4:138450767G>A ENST00000344876.4 - 1 2862 c.2476C>T c.(2476-2478)Cct>Tct p.P826S PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P826S|PCDH18_ENST00000510305.1_Missense_Mutation_p.P37S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P606S NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 826 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCAACAGCAGGAGTGGCGTGG 0.413000 7 48 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576787 158576787 + Missense_Mutation SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:158576787C>A ENST00000361284.1 + 1 559 c.559C>A c.(559-561)Cta>Ata p.L187I NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TGTGCTGAGCCTAGCCTGTGG 0.493000 15 129 1.3612e-06 1.46203e-06 1 1 0 TET1 80312 broad.mit.edu 37 10 70405206 70405206 + Missense_Mutation SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:70405206A>G ENST00000373644.4 + 4 2929 c.2720A>G c.(2719-2721)aAt>aGt p.N907S NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 907 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CCATCAGAGAATTCCTCCCCA 0.443000 61 118 0 0 1 0 0 RPA4 29935 broad.mit.edu 37 X 96139765 96139765 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:96139765C>T ENST00000373040.3 + 1 859 c.456C>T c.(454-456)aaC>aaT p.N152N DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 152 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 AGGACATGAACGAGTTCACCG 0.458000 Other identified genes with known or suspected DNA repair function 14 113 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45162189 45162189 + Missense_Mutation SNP C C A rs35385129 by1000genomes TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:45162189C>A ENST00000406449.4 + 6 1171 c.1171C>A c.(1171-1173)Cgt>Agt p.R391S PVR_ENST00000403059.4_Intron|PVR_ENST00000425690.3_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Intron NM_001135770.1 NP_001129242.1 P15151 PVR_HUMAN poliovirus receptor 0 adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) CCagagctgccgtaattgagc 0.532000 6 55 0.00116845 0.00122108 1 1 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186555 37186555 + RNA SNP C C T rs9893920 by1000genomes TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr17:37186555C>T ENST00000425901.2 + 0 397 NR_033753.2 GAACCTTCTCCAGTCCAGCAA 0.587000 4 45 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098959 178098959 + Missense_Mutation SNP T T C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:178098959T>C ENST00000397062.3 - 2 640 c.86A>G c.(85-87)gAt>gGt p.D29G NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13G NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D29G(6) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TACTCCAAGATCTATATCTTG 0.368000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 10 45 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33832803 33832803 + Missense_Mutation SNP T T C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:33832803T>C ENST00000257118.5 - 6 943 c.890A>G c.(889-891)aAc>aGc p.N297S PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.N268S|PHC2_ENST00000419414.2_Missense_Mutation_p.N297S NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 297 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CACACTGCTGTTGCCATCTCC 0.607000 37 56 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36766025 36766025 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr13:36766025G>A ENST00000379881.3 - 5 525 c.437C>T c.(436-438)aCt>aTt p.T146I SOHLH2_ENST00000554962.1_Missense_Mutation_p.T223I|SOHLH2_ENST00000317764.6_Missense_Mutation_p.T146I|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T223I NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TGCGTTTTCAGTCTTAACTGA 0.433000 21 25 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765719 27765719 + Missense_Mutation SNP T T A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:27765719T>A ENST00000451261.2 + 5 1106 c.707T>A c.(706-708)tTt>tAt p.F236Y NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 ACTGTACACTTTAACCAGCGT 0.542000 4 8 0 0 1 0 0 CCDC3 83643 broad.mit.edu 37 10 12940464 12940464 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:12940464C>T ENST00000378839.1 - 7 1342 c.390G>A c.(388-390)ccG>ccA p.P130P CCDC3_ENST00000378825.3_Silent_p.P255P Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 255 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) CATTGATGTGCGGCAGCGCGC 0.672000 21 39 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48422152 48422152 + Silent SNP A A T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr4:48422152A>T ENST00000264313.6 + 7 1789 c.1371A>T c.(1369-1371)ccA>ccT p.P457P SLAIN2_ENST00000512093.1_Silent_p.P290P NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 457 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 TACCTTCTCCAGGCAAATTCC 0.433000 16 45 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212858 131212858 + Missense_Mutation SNP G G C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:131212858G>C ENST00000298542.4 - 12 1362 c.1187C>G c.(1186-1188)tCc>tGc p.S396C FRMD7_ENST00000464296.1_Missense_Mutation_p.S381C|FRMD7_ENST00000370879.1_Missense_Mutation_p.S276C NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 396 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CTCTGGTTTGGAatgctccag 0.478000 79 195 0 0 1 0 0 MRRF 92399 broad.mit.edu 37 9 125042860 125042860 + Missense_Mutation SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr9:125042860A>G ENST00000344641.3 + 3 634 c.323A>G c.(322-324)aAt>aGt p.N108S MRRF_ENST00000373728.1_Missense_Mutation_p.N108S|MRRF_ENST00000373729.1_Missense_Mutation_p.N64S|MRRF_ENST00000373730.3_Missense_Mutation_p.N108S|MRRF_ENST00000394315.3_Missense_Mutation_p.N108S|MRRF_ENST00000373727.1_Missense_Mutation_p.N108S|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373723.4_Missense_Mutation_p.N108S|MRRF_ENST00000546115.1_Missense_Mutation_p.N108S NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor 108 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 AAGACTCTCAATATAAGGACC 0.413000 11 70 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55331452 55331452 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:55331452G>A ENST00000391728.4 + 4 673 c.640G>A c.(640-642)Gac>Aac p.D214N KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D119N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D214N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D214N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D214N|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.D214N NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) TGATCCCCTGGACATCGTGGT 0.537000 6 99 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3742495 3742495 + Nonsense_Mutation SNP G G C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr18:3742495G>C ENST00000315677.3 - 6 1785 c.1190C>G c.(1189-1191)tCa>tGa p.S397* DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.S103*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.S95*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.S105*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.S103*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.S397*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.S397*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.S95*|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.S95*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.S109*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.S103*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.S397* NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 397 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GAGTTTGGGTGAGTGTTCATT 0.488000 10 28 0 0 1 0 0 SLC25A34 284723 broad.mit.edu 37 1 16065838 16065838 + Silent SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:16065838C>G ENST00000294454.5 + 5 933 c.852C>G c.(850-852)ctC>ctG p.L284L NM_207348.1 NP_997231.1 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 284 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACACCATCCTCAGCATGCTCT 0.687000 8 85 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45646959 45646959 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:45646959C>T ENST00000263736.4 - 17 2186 c.2124G>A c.(2122-2124)gtG>gtA p.V708V SRBD1_ENST00000535761.1_Silent_p.V227V|SRBD1_ENST00000490133.1_5'UTR NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 708 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TGTTAATATCCACTCCCACAA 0.403000 27 94 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 6 14 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233749988 233749988 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:233749988G>A ENST00000366621.3 + 1 239 c.71G>A c.(70-72)gGc>gAc p.G24D NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 24 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGGTGCTTCGGCTTCCTGGTG 0.687000 3 30 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10680252 10680252 + Silent SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr18:10680252G>A ENST00000302079.6 - 47 7367 c.7368C>T c.(7366-7368)caC>caT p.H2456H PIEZO2_ENST00000538948.1_Silent_p.H476H|PIEZO2_ENST00000581680.1_Intron|PIEZO2_ENST00000580640.1_Silent_p.H2544H|PIEZO2_ENST00000503781.3_Silent_p.H2519H|PIEZO2_ENST00000285141.4_Silent_p.H311H Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2519 integral to membrane ion channel activity CCAGGAGTTCGTGTATCATTT 0.393000 23 91 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584436 1584436 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:1584436G>A ENST00000381297.4 - 2 1226 c.1016C>T c.(1015-1017)gCg>gTg p.A339V NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 339 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCAGGGTGCGCACCGGCCTC 0.706000 T CRLF2 """B-ALL, Downs associated ALL""" 6 72 0 0 1 0 0 NCBP2 22916 broad.mit.edu 37 3 196663952 196663952 + Splice_Site SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr3:196663952A>G ENST00000447325.1 - 4 540 c.189_splice c.e4-1 p.V64_splice NCBP2_ENST00000321256.5_Splice_Site_p.V134_splice|NCBP2_ENST00000427641.2_Splice_Site_p.V81_splice|NCBP2_ENST00000452404.2_Splice_Site_p.V116_splice|NCBP2_ENST00000422610.1_Splice_Site_p.V64_splice|NCBP2_ENST00000467803.1_5'UTR P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 134 RRM. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) CTCATCCCGAACCTTTAATGG 0.448000 10 73 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 27 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18194273 18194273 + Silent SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:18194273A>G ENST00000600835.1 - 3 396 c.93T>C c.(91-93)ttT>ttC p.F31F IL12RB1_ENST00000593993.1_Silent_p.F31F|IL12RB1_ENST00000322153.6_Silent_p.F31F|IL12RB1_ENST00000430026.2_Silent_p.F31F P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 31 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GCGGGTCCTGAAAACAGCACT 0.567000 12 72 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41548112 41548112 + Missense_Mutation SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr8:41548112C>A ENST00000396942.1 - 32 3947 c.3864G>T c.(3862-3864)ttG>ttT p.L1288F ANK1_ENST00000396945.1_Missense_Mutation_p.L1288F|ANK1_ENST00000379758.2_Missense_Mutation_p.L1288F|ANK1_ENST00000289734.7_Missense_Mutation_p.L1288F|ANK1_ENST00000347528.4_Missense_Mutation_p.L1288F|ANK1_ENST00000352337.4_Missense_Mutation_p.L1288F|ANK1_ENST00000265709.8_Missense_Mutation_p.L1329F P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1288 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACATTCCTTCCAACACCTGCA 0.557000 37 109 7.91308e-09 8.74207e-09 1 1 0 KLHL15 80311 broad.mit.edu 37 X 24006484 24006484 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:24006484G>A ENST00000328046.8 - 4 1624 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 457 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 CTCCTGGTCCGTTGTTCTATG 0.448000 33 120 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951019 119951019 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr4:119951019C>T ENST00000307142.4 + 4 1285 c.1089C>T c.(1087-1089)agC>agT p.S363S SYNPO2_ENST00000434046.2_Silent_p.S363S|SYNPO2_ENST00000429713.2_Silent_p.S363S|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 363 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.S363S(1) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGAGTGAAAGCCTGTCAGAAA 0.428000 39 89 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219290443 219290443 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:219290443G>A ENST00000248444.5 + 4 344 c.256G>A c.(256-258)Gat>Aat p.D86N VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.D86N NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 86 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACACAGATGGATGACTTCCT 0.602000 16 67 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 34046532 34046532 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr22:34046532G>A ENST00000354992.2 - 4 800 c.229C>T c.(229-231)Cgc>Tgc p.R77C LARGE_ENST00000402320.1_Missense_Mutation_p.R77C|LARGE_ENST00000397394.2_Missense_Mutation_p.R77C|LARGE_ENST00000437602.2_Missense_Mutation_p.R77C|LARGE_ENST00000337431.2_Missense_Mutation_p.R77C|LARGE_ENST00000462606.1_5'UTR NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 77 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) CGGAGGGCGCGGTTCTCCTCC 0.697000 18 64 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79999689 79999689 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:79999689G>A ENST00000373275.4 - 8 871 c.655C>T c.(655-657)Cgt>Tgt p.R219C NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 219 p.R219C(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GAGTGTCCACGAAGTGTAGCA 0.403000 8 124 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159530506 159530506 + Nonsense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:159530506C>T ENST00000389757.3 + 19 3246 c.3121C>T c.(3121-3123)Cag>Tag p.Q1041* AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Nonsense_Mutation_p.Q1041* NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 1041 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACCCATCATTCAGTCAGGTCA 0.463000 HNSCC(62;0.18) 20 122 0 0 1 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573460 106573460 + RNA SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr14:106573460C>T ENST00000390601.2 - 0 243 CCAGAGGCTGCACAGGAGAGT 0.562000 46 157 0 0 1 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176752076 176752076 + Missense_Mutation SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr3:176752076A>G ENST00000430069.1 - 13 1419 c.1160T>C c.(1159-1161)tTg>tCg p.L387S TBL1XR1_ENST00000457928.2_Missense_Mutation_p.L387S Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 387 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) ATGTGCTTGCAAATCATGGAC 0.294000 5 28 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477061 128477061 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:128477061C>T ENST00000322313.4 - 16 2696 c.2538G>A c.(2536-2538)ctG>ctA p.L846L NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 846 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGGGAGGTCCCAGCATTGATC 0.637000 4 59 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114899693 114899693 + Missense_Mutation SNP T T C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr4:114899693T>C ENST00000315366.7 - 1 1164 c.298A>G c.(298-300)Aca>Gca p.T100A ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.T100A NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 100 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) AGAGTAGGTGTTTTAATCTCA 0.473000 31 91 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34558771 34558771 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr10:34558771G>A ENST00000374789.3 - 22 3567 c.3242C>T c.(3241-3243)gCt>gTt p.A1081V PARD3_ENST00000350537.4_Missense_Mutation_p.A1035V|PARD3_ENST00000346874.4_Missense_Mutation_p.A1044V|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374790.3_Missense_Mutation_p.A1021V|PARD3_ENST00000374794.3_Missense_Mutation_p.A969V|PARD3_ENST00000374788.3_Missense_Mutation_p.A1078V|PARD3_ENST00000545260.1_Missense_Mutation_p.A991V|PARD3_ENST00000545693.1_Missense_Mutation_p.A1065V NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1081 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TTGAATTTCAGCATAGTCACG 0.403000 10 38 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55048266 55048266 + Missense_Mutation SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:55048266C>A ENST00000335056.3 + 5 871 c.833C>A c.(832-834)gCc>gAc p.A278D KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GCATTCCAGGCCAACTTTTCT 0.552000 5 80 0.00116845 0.00122108 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48314637 48314637 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr7:48314637G>A ENST00000435803.1 + 17 5398 c.5374G>A c.(5374-5376)Gca>Aca p.A1792T NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1792 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GGAAGACTTCGCAATTGTGAT 0.388000 5 39 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180886141 180886141 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:180886141G>A ENST00000367588.4 + 2 957 c.902G>A c.(901-903)cGc>cAc p.R301H NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 301 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GAGAGAAACCGCCTGTTGCTG 0.637000 15 74 0 0 1 0 0 SMYD3 64754 broad.mit.edu 37 1 246498678 246498678 + Silent SNP G G A rs148554980 TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:246498678G>A ENST00000490107.1 - 3 366 c.150C>T c.(148-150)gtC>gtT p.V50V SMYD3_ENST00000388985.4_Silent_p.V109V|SMYD3_ENST00000541742.1_Silent_p.V50V|SMYD3_ENST00000403792.3_Silent_p.V109V NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 109 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) CAAGTTTGAAGACAACTCTGC 0.413000 5 94 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48750367 48750367 + Silent SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr17:48750367C>G ENST00000285238.8 + 18 2357 c.2277C>G c.(2275-2277)gtC>gtG p.V759V NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 759 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GGCAGCGGGTCAGTCTGGCTC 0.597000 7 38 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 100957984 100957984 + Splice_Site SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr6:100957984C>A ENST00000369162.2 - 41 6630 c.e41-1 NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTGGCTTTCCCTGTAAACCAG 0.383000 36 106 6.29468e-14 7.22954e-14 1 1 0 WAS 7454 broad.mit.edu 37 X 48547388 48547388 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:48547388G>A ENST00000376701.4 + 10 1346 c.1271G>A c.(1270-1272)gGc>gAc p.G424D NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 424 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCTGCCGGGGGCCTGGCCCCT 0.682000 """Mis, N, F, S""" lymphoma 4 12 0 0 1 0 0 RPL5 6125 broad.mit.edu 37 1 93300465 93300465 + Missense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:93300465C>T ENST00000370321.3 + 4 409 c.319C>T c.(319-321)Cgc>Tgc p.R107C NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 107 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) GCTGCTGGCCCGCAGGGTATG 0.438000 18 156 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154159595 154159595 + Silent SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:154159595A>G ENST00000360256.4 - 14 2670 c.2470T>C c.(2470-2472)Tta>Cta p.L824L NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 824 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGATCAGATAAGGATAGCCCA 0.418000 66 132 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21483062 21483062 + Silent SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr18:21483062G>A ENST00000313654.9 + 49 6532 c.6291G>A c.(6289-6291)gcG>gcA p.A2097A LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.A432A|LAMA3_ENST00000269217.6_Silent_p.A488A|LAMA3_ENST00000399516.3_Silent_p.A2041A NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2097 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAACATTGCGCTGCAGCTGA 0.363000 26 74 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72700743 72700743 + Missense_Mutation SNP G G C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr17:72700743G>C ENST00000469092.1 - 3 541 c.265C>G c.(265-267)Cag>Gag p.Q89E CD300LF_ENST00000343125.4_Missense_Mutation_p.Q89E|CD300LF_ENST00000583937.1_Missense_Mutation_p.Q86E|CD300LF_ENST00000464910.1_Missense_Mutation_p.Q89E|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.Q86E|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.Q86E|CD300LF_ENST00000361254.4_Missense_Mutation_p.Q89E|CD300LF_ENST00000581500.1_Missense_Mutation_p.Q89E Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 86 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CGGTTTTTCTGATTGTCCTTG 0.493000 14 224 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1415317 1415317 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr3:1415317G>A ENST00000446702.2 + 15 2443 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M CNTN6_ENST00000350110.2_Missense_Mutation_p.V606M|CNTN6_ENST00000539053.1_Missense_Mutation_p.V534M Q9UQ52 CNTN6_HUMAN contactin 6 606 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGATGTGCAAGTGGAAGACAT 0.393000 25 55 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88047769 88047769 + Missense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr5:88047769C>T ENST00000504921.2 - 5 1166 c.494G>A c.(493-495)gGa>gAa p.G165E MEF2C_ENST00000539796.1_Missense_Mutation_p.G117E|MEF2C_ENST00000508569.1_Missense_Mutation_p.G165E|MEF2C_ENST00000340208.5_Missense_Mutation_p.G183E|MEF2C_ENST00000510942.1_Missense_Mutation_p.G165E|MEF2C_ENST00000437473.2_Missense_Mutation_p.G165E|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Missense_Mutation_p.G165E|MEF2C_ENST00000514015.1_Missense_Mutation_p.G165E|MEF2C_ENST00000424173.2_Missense_Mutation_p.G163E|MEF2C_ENST00000514028.1_Missense_Mutation_p.G165E Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 165 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) GTTGGGGTTTCCCAGTGAGCT 0.532000 HNSCC(66;0.2) 8 98 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10392085 10392085 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr3:10392085C>T ENST00000397077.1 - 14 2753 c.2178G>A c.(2176-2178)ggG>ggA p.G726G ATP2B2_ENST00000383800.4_Silent_p.G726G|ATP2B2_ENST00000360273.2_Silent_p.G771G|ATP2B2_ENST00000352432.4_Silent_p.G771G|ATP2B2_ENST00000343816.4_Silent_p.G757G Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 771 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CACGCACCTCCCCCTTCTCGT 0.592000 17 36 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183939 55183939 + Missense_Mutation SNP G G T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr17:55183939G>T ENST00000337714.3 + 2 1347 c.1114G>T c.(1114-1116)Gca>Tca p.A372S AKAP1_ENST00000571629.1_Missense_Mutation_p.A372S|AKAP1_ENST00000314126.3_Missense_Mutation_p.A372S|AKAP1_ENST00000539273.1_Missense_Mutation_p.A372S|AKAP1_ENST00000572557.1_Missense_Mutation_p.A372S NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 372 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TGGCAAGGTTGCAGGTCGTGT 0.557000 30 84 3.73148e-12 4.20244e-12 1 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21926031 21926031 + Missense_Mutation SNP C C T rs138045307 byFrequency TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:21926031C>T ENST00000542643.2 - 23 2112 c.1810G>A c.(1810-1812)Gtg>Atg p.V604M RAP1GAP_ENST00000374765.4_Missense_Mutation_p.V578M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.V663M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.V642M|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.V609M NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 578 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) TCCTCCACCACGCTGGCGAAG 0.667000 25 49 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24446044 24446044 + Missense_Mutation SNP T T G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr6:24446044T>G ENST00000230036.1 - 19 1946 c.1836A>C c.(1834-1836)ttA>ttC p.L612F NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 612 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTCGGATGTGTAACAAATGGC 0.512000 7 94 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 60 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41550204 41550204 + Missense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr8:41550204C>T ENST00000396942.1 - 31 3903 c.3820G>A c.(3820-3822)Gag>Aag p.E1274K ANK1_ENST00000396945.1_Missense_Mutation_p.E1274K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1274K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1274K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1274K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1274K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1315K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1274 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACGAAGTTCTCATGCTGCTCC 0.572000 182 490 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 60 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138163365 138163365 + Silent SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr5:138163365C>T ENST00000302763.7 + 7 1110 c.1020C>T c.(1018-1020)gtC>gtT p.V340V CTNNA1_ENST00000518825.1_Silent_p.V340V|CTNNA1_ENST00000355078.5_Silent_p.V237V NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 340 Interaction with alpha-actinin. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTAATGCTGTCCGCCAGGCCC 0.502000 7 36 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5443840 5443840 + Nonsense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr18:5443840G>A ENST00000341928.2 - 5 866 c.526C>T c.(526-528)Cga>Tga p.R176* EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.R176*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.R176*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R176*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R176*|EPB41L3_ENST00000542652.2_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 176 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AACTTACTTCGAACCTGTTTT 0.343000 8 61 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461394 76461394 + Missense_Mutation SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr16:76461394C>A ENST00000307431.8 + 5 818 c.433C>A c.(433-435)Ctc>Atc p.L145I CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L145I|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L121I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L149I|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 146 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GTACTATAGACTCCAGCCTTC 0.433000 8 172 0.0381472 0.0381472 1 1 0 TLR10 81793 broad.mit.edu 37 4 38775656 38775656 + Missense_Mutation SNP G G A rs149319935 TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr4:38775656G>A ENST00000308973.4 - 4 2161 c.1556C>T c.(1555-1557)gCg>gTg p.A519V TLR10_ENST00000508334.1_Missense_Mutation_p.A519V|TLR10_ENST00000506111.1_Missense_Mutation_p.A519V|TLR10_ENST00000361424.2_Missense_Mutation_p.A519V NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 519 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 ATTTCTTCCCGCATTTAGAGT 0.388000 23 135 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44216503 44216503 + Missense_Mutation SNP A A C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr6:44216503A>C ENST00000371554.1 + 2 351 c.137A>C c.(136-138)aAt>aCt p.N46T HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N46T|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N46T P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 46 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTGATCTCTAATGCTTCTGAT 0.438000 18 196 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 6 38 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737344 248737344 + Missense_Mutation SNP G G A rs148907652 byFrequency TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr1:248737344G>A ENST00000328782.2 - 1 736 c.715C>T c.(715-717)Cgc>Tgc p.R239C NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCTTCCTGCGGCCGGCGGCA 0.567000 13 211 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119466053 119466053 + Missense_Mutation SNP C C A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr3:119466053C>A ENST00000273390.5 + 15 2071 c.1994C>A c.(1993-1995)gCa>gAa p.A665E RP11-169N13.4_ENST00000489428.2_RNA NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CAAGCCAGGGCAGAAATAGAG 0.403000 34 56 9.65021e-13 1.09747e-12 1 1 0 TEP1 7011 broad.mit.edu 37 14 20850171 20850171 + Missense_Mutation SNP G G A rs147151688 byFrequency TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr14:20850171G>A ENST00000262715.5 - 30 4365 c.4325C>T c.(4324-4326)cCg>cTg p.P1442L TEP1_ENST00000556935.1_Missense_Mutation_p.P1334L|TEP1_ENST00000545983.1_5'UTR NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1442 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGTCCCCTTCGGTAGTGTCCG 0.592000 5 45 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39867145 39867145 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr19:39867145G>A ENST00000314471.6 + 8 2011 c.976G>A c.(976-978)Gag>Aag p.E326K SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.E326K NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 326 SAM. protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GATGAGCTACGAGGAGATGAT 0.562000 4 51 0 0 1 0 0 RGS14 10636 broad.mit.edu 37 5 176793799 176793799 + Nonsense_Mutation SNP C C T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr5:176793799C>T ENST00000408923.3 + 4 525 c.337C>T c.(337-339)Cag>Tag p.Q113* NM_006480.4 NP_006471.2 O43566 RGS14_HUMAN regulator of G-protein signaling 14 113 RGS. chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGATACCCAGCAGGTGGGGGA 0.647000 6 66 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27817349 27817349 + Missense_Mutation SNP G G C TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr12:27817349G>C ENST00000318304.8 + 12 1304 c.1021G>C c.(1021-1023)Gac>Cac p.D341H PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D321H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D310H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D188H NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 341 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GAAAATGCAAGACACGGTGGT 0.368000 4 27 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33993256 33993256 + Missense_Mutation SNP G G T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr15:33993256G>T ENST00000389232.4 + 42 6528 c.6458G>T c.(6457-6459)aGc>aTc p.S2153I RYR3_ENST00000415757.3_Missense_Mutation_p.S2153I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2153 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTAGCGCTGAGCTTAGAGGAA 0.567000 OREG0023030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0.014758 0.0148863 1 1 0 DST 667 broad.mit.edu 37 6 56473731 56473731 + Nonsense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr6:56473731G>A ENST00000370754.5 - 39 5595 c.5596C>T c.(5596-5598)Cag>Tag p.Q1866* DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Nonsense_Mutation_p.Q1688*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q1688*|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.Q1688*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1362* Q03001 DYST_HUMAN dystonin 1688 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACCAAGTTCTGTTGGAAAGCC 0.418000 12 160 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 784289 784289 + Missense_Mutation SNP G G A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr16:784289G>A ENST00000301694.5 - 5 511 c.500C>T c.(499-501)cCg>cTg p.P167L NARFL_ENST00000251588.2_Silent_p.T211T|NARFL_ENST00000540986.1_Silent_p.T109T|NARFL_ENST00000568545.1_Silent_p.T109T|HAGHL_ENST00000569604.1_3'UTR Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 0 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GGGACCGGGCGGTGCTGATGT 0.682000 10 45 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17881630 17881630 + Missense_Mutation SNP C C G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:17881630C>G ENST00000448223.2 - 21 2508 c.2239G>C c.(2239-2241)Gaa>Caa p.E747Q SMC6_ENST00000381272.4_Missense_Mutation_p.E773Q|SMC6_ENST00000351948.4_Missense_Mutation_p.E747Q|SMC6_ENST00000402989.1_Missense_Mutation_p.E747Q NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 747 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTTTATTTTCCTGAGCTTCA 0.269000 3 26 0 0 1 0 0 LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 4 6 --- --- --- --- FMNL2 114793 broad.mit.edu 37 2 153504313 153504314 + Frame_Shift_Del DEL TT TT - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:153504313_153504314delTT ENST00000288670.9 + 26 3540_3541 c.3173_3174delTT c.(3172-3174)cfs p.L1058fs FMNL2_ENST00000475377.2_3'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 1058 DAD. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 TTTACAGATCTTAGAAACCAAC 0.485 41 202 --- --- --- --- LRP2 4036 broad.mit.edu 37 2 170042394 170042396 + In_Frame_Del DEL TCA TCA - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr2:170042394_170042396delTCA ENST00000263816.3 - 50 9747_9749 c.9462_9464delTGA c.(9460-9465)gaa>ga p.DE3154del NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3154 EGF-like 12; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTCTGTGCATTCATCAATATCAA 0.473 15 159 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146823705 146823708 + Frame_Shift_Del DEL GCAT GCAT - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr4:146823705_146823708delGCAT ENST00000508784.1 - 2 930_933 c.703_706delATGC c.(703-708)gafs p.MR235fs ZNF827_ENST00000379448.4_Frame_Shift_Del_p.MR235fs|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GACTCAAATCGCATGGTCTCCTCA 0.515 19 69 --- --- --- --- APC 324 broad.mit.edu 37 5 112174472 112174475 + Frame_Shift_Del DEL AAAC AAAC - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr5:112174472_112174475delAAAC ENST00000457016.1 + 16 3561_3564 c.3181_3184delAAAC c.(3181-3186)aafs p.KQ1061fs CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.KQ1061fs|APC_ENST00000508376.2_Frame_Shift_Del_p.KQ1061fs P25054 APC_HUMAN adenomatous polyposis coli 1061 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.Q1062fs*1(3)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGATGAAATAAAACAAAGTGAGCA 0.368 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 9 33 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 4 4 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102476332 102476332 + Frame_Shift_Del DEL C C - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr14:102476332delC ENST00000360184.4 + 30 6294 c.6130delC c.(6130-6132)ccfs p.P2044fs NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2044 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CATGACCAAGCCCGACCGGCA 0.537 28 68 --- --- --- --- DISP2 85455 broad.mit.edu 37 15 40660584 40660584 + Frame_Shift_Del DEL C C - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr15:40660584delC ENST00000267889.3 + 8 2358 c.2271delC c.(2269-2271)ttfs p.F757fs NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 757 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GCCAGCTGTTCCTGTTCGAGC 0.721 11 56 --- --- --- --- UPF3AP2 147150 broad.mit.edu 37 17 20279654 20279655 + RNA INS - - T TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr17:20279654_20279655insT ENST00000578315.1 - 0 51_52 atctgtctctcttttttttttt 0.381 4 6 --- --- --- --- BCRP7 100133163 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 3 5 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca997f5d-0e39-40d9-8aae-c06dab64b7c8 dac8a0b8-e83f-4296-b141-63f45f4291f2 g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 9 33 --- --- --- ---