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 EXOC6B 23233 broad.mit.edu 37 2 72945329 72945329 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:72945329C>T ENST00000272427.6 - 6 702 c.572G>A c.(571-573)cGa>cAa p.R191Q EXOC6B_ENST00000410104.1_Missense_Mutation_p.R191Q NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 191 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TATTTCTTCTCGAAGCTTGGG 0.443000 17 85 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60847309 60847309 + Silent SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:60847309G>A ENST00000313733.3 + 5 589 c.387G>A c.(385-387)agG>agA p.R129R OSBPL2_ENST00000358053.2_Silent_p.R117R|OSBPL2_ENST00000439951.2_Silent_p.R37R NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 129 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CCCTGGAGAGGATGCAGGTGG 0.607000 35 633 0 0 1 0 0 PLA2G15 23659 broad.mit.edu 37 16 68279444 68279444 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:68279444C>G ENST00000219345.5 + 1 198 c.115C>G c.(115-117)Cca>Gca p.P39A PLA2G15_ENST00000444212.2_Missense_Mutation_p.P39A|PLA2G15_ENST00000413021.2_Missense_Mutation_p.P39A|PLA2G15_ENST00000566188.1_Missense_Mutation_p.P39A NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 39 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 ACGTCACCCCCCAGTGGTGCT 0.711000 3 34 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702378 179702378 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:179702378C>T ENST00000420890.2 - 23 3685 c.3568G>A c.(3568-3570)Ggc>Agc p.G1190S CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G615S NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 615 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCCTGGACGCCACCCTCCTTG 0.557000 64 105 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459818 66459818 + RNA SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:66459818C>T ENST00000424345.1 + 0 78 gatttgtccccagtgccttat 0.353000 3 12 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506338 44506338 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:44506338G>A ENST00000255152.2 + 2 1350 c.1141G>A c.(1141-1143)Gtt>Att p.V381I ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V375I NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 381 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GTACATGCATGTTAGGAAGGG 0.532000 52 649 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457546 66457546 + RNA SNP T T C TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:66457546T>C ENST00000424345.1 + 0 67 TTCTGTCTCCTTGATGCGGTG 0.562000 5 16 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62871241 62871241 + Silent SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62871241C>T ENST00000536311.1 + 22 3667 c.3303C>T c.(3301-3303)atC>atT p.I1101I MYT1_ENST00000328439.1_Silent_p.I1074I Q01538 MYT1_HUMAN myelin transcription factor 1 1074 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TCGCCAATATCCGCCTTCCGC 0.622000 181 1151 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144864276 144864276 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:144864276C>T ENST00000369359.4 - 39 6265 c.6227G>A c.(6226-6228)cGa>cAa p.R2076Q PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1834Q|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1940Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1940Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R2025Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1940 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R1940Q(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGGTGGGATCGAGAGGACAG 0.527000 T PDGFRB MPD 26 292 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31628791 31628791 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:31628791C>G ENST00000379416.3 - 2 130 c.82G>C c.(82-84)Gcc>Ccc p.A28P NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 28 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCAGGTAGGCCAAAAGGGTT 0.403000 28 82 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62867928 62867928 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62867928C>T ENST00000536311.1 + 20 3363 c.2999C>T c.(2998-3000)gCa>gTa p.A1000V MYT1_ENST00000328439.1_Missense_Mutation_p.A973V Q01538 MYT1_HUMAN myelin transcription factor 1 973 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGTCCCAGAGCAACCTTTGCT 0.552000 52 348 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23876398 23876398 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr14:23876398G>A ENST00000405093.3 - 3 105 c.35C>T c.(34-36)gCg>gTg p.A12V MYH6_ENST00000356287.3_Missense_Mutation_p.A12V NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 12 Myosin head-like. AA -> T (in Ref. 8; CAA29120). adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTACTGGGCCGCTGCCCCAAA 0.607000 5 227 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140180922 140180922 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr5:140180922G>A ENST00000522353.2 + 1 140 c.140G>A c.(139-141)cGc>cAc p.R47H PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 p.R47P(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGTGGGCCGCATCGCGCAG 0.657000 4 152 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187088 62187088 + Missense_Mutation SNP G G T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62187088G>T ENST00000370098.3 + 2 164 c.72G>T c.(70-72)caG>caT p.Q24H C20orf195_ENST00000370097.1_Missense_Mutation_p.Q24H NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 24 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TCCTGGACCAGGAGGAGGCAG 0.637000 24 348 4.4004e-07 4.78725e-07 1 1 0 ZAN 7455 broad.mit.edu 37 7 100369619 100369619 + RNA SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:100369619G>A ENST00000542585.1 + 0 5549 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGGCCCCTGCCTGGCGGAA 0.627000 7 34 0 0 1 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9967 9967 + Missense_Mutation SNP T T C TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chrM:9967T>C ENST00000362079.2 + 1 761 c.761T>C c.(760-762)gTc>gCc p.254_254insA mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 ATTTCTGTATGTCTCCATCTA 0.358000 11 109 0 0 1 0 0 MARS2 92935 broad.mit.edu 37 2 198571112 198571112 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:198571112G>A ENST00000282276.6 + 1 1026 c.983G>A c.(982-984)gGc>gAc p.G328D AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 328 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.G328D(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) TTAGGGGCCGGCATGAGCCCG 0.542000 6 320 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23163401 23163401 + Translation_Start_Site SNP G G A rs150640353 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:23163401G>A ENST00000409689.1 + 0 506 KLHL7_ENST00000545443.1_Silent_p.T20T|KLHL7_ENST00000322275.5_Silent_p.T42T|KLHL7_ENST00000339077.4_Silent_p.T42T|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000545771.1_Silent_p.T20T|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000322231.7_Silent_p.T20T|KLHL7_ENST00000410047.1_Silent_p.T20T|KLHL7_ENST00000542558.1_Intron NM_018846.4 NP_061334.4 Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 Golgi apparatus|nucleolus|plasma membrane p.T20T(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATTAGAAAACGTTGTGTGACG 0.373000 15 53 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378230 16378230 + Silent SNP G G T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:16378230G>T ENST00000375679.4 + 14 1434 c.1323G>T c.(1321-1323)ggG>ggT p.G441G CLCNKB_ENST00000375667.3_Silent_p.G272G NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GCCTCTTTGGGGAGACTCTCT 0.632000 81 112 1.81764e-44 2.0924e-44 1 1 0 REEP1 65055 broad.mit.edu 37 2 86509339 86509339 + Missense_Mutation SNP G G A rs121918262 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:86509339G>A ENST00000165698.5 - 2 202 c.59C>T c.(58-60)gCg>gTg p.A20V REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.A20V|REEP1_ENST00000538924.1_Missense_Mutation_p.A27V|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 20 A -> E (in SPG31). cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 GGAATAATACGCAGGGTAAAG 0.388000 51 201 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794987 55794987 + Silent SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:55794987G>A ENST00000379665.2 + 1 774 c.675G>A c.(673-675)aaG>aaA p.K225K NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 CAATTCTGAAGATTCCCTCTG 0.398000 37 221 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187101 62187101 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62187101G>A ENST00000370098.3 + 2 177 c.85G>A c.(85-87)Gac>Aac p.D29N C20orf195_ENST00000370097.1_Missense_Mutation_p.D29N NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 29 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGAGGCAGATGACCAGCAGCT 0.627000 21 349 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196497 62196497 + Silent SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62196497G>A ENST00000467148.1 - 8 3747 c.3678C>T c.(3676-3678)atC>atT p.I1226I HELZ2_ENST00000427522.2_Silent_p.I657I NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGGCCACGAAGATCTTGGTCA 0.652000 5 124 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10397671 10397671 + Splice_Site SNP C C T rs145273788 byFrequency TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:10397671C>T ENST00000226207.5 - 39 5761 c.5667_splice c.e39+1 p.A1889_splice CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1889 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.A1889A(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTGAACTCACCGCTTCTTCAG 0.443000 46 94 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53092524 53092524 + Silent SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:53092524C>T ENST00000262593.5 + 1 389 c.39C>T c.(37-39)taC>taT p.Y13Y DOK5_ENST00000491469.1_3'UTR|DOK5_ENST00000395939.1_Intron NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 13 PH. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) AGCAAGGGTACGTGAGGATCC 0.587000 100 53 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 356 89 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91422045 91422045 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:91422045C>T ENST00000268171.3 + 9 1171 c.892C>T c.(892-894)Cgg>Tgg p.R298W NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 298 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GAACGGGGGCCGGGAACATGA 0.622000 10 55 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457513 66457513 + RNA SNP A A G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:66457513A>G ENST00000424345.1 + 0 67 GCGTTTCATAAGGTCCTTCCT 0.557000 5 13 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46670620 46670620 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:46670620G>A ENST00000239151.5 - 1 703 c.425C>T c.(424-426)cCt>cTt p.P142L HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 142 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 CGCTTCCTCAGGCTCCGAGGA 0.687000 40 57 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62871771 62871771 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62871771C>G ENST00000536311.1 + 23 3781 c.3417C>G c.(3415-3417)atC>atG p.I1139M MYT1_ENST00000328439.1_Missense_Mutation_p.I1112M Q01538 MYT1_HUMAN myelin transcription factor 1 1112 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGGAGAGCATCAAGCAGGCTG 0.597000 64 312 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511203 61511203 + Missense_Mutation SNP A A T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr11:61511203A>T ENST00000257215.5 + 20 2487 c.2371A>T c.(2371-2373)Agc>Tgc p.S791C NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 791 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GTCCCTGTACAGCTTCGACTC 0.672000 40 74 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725478 38725478 + Missense_Mutation SNP C C A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:38725478C>A ENST00000409072.3 - 2 1062 c.128G>T c.(127-129)cGc>cTc p.R43L family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GTGAACCTTGCGCAGGGGATT 0.522000 60 102 9.5628e-27 1.08818e-26 1 1 0 OSBPL2 9885 broad.mit.edu 37 20 60847240 60847240 + Silent SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:60847240G>A ENST00000313733.3 + 5 520 c.318G>A c.(316-318)cgG>cgA p.R106R OSBPL2_ENST00000358053.2_Silent_p.R94R|OSBPL2_ENST00000439951.2_Silent_p.R14R NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 106 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) TCTTGCAGCGGATCACGGAGT 0.607000 66 702 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187019 62187019 + Translation_Start_Site SNP G G T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62187019G>T ENST00000370098.3 + 2 95 c.3G>T c.(1-3)atG>atT p.M1I C20orf195_ENST00000370097.1_Start_Codon_SNP_p.M1I NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 1 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CCCGGATAATGAGCACCCATG 0.647000 10 213 0.0581538 0.0587472 1 1 0 OSBPL2 9885 broad.mit.edu 37 20 60847256 60847256 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:60847256G>A ENST00000313733.3 + 5 536 c.334G>A c.(334-336)Gag>Aag p.E112K OSBPL2_ENST00000358053.2_Missense_Mutation_p.E100K|OSBPL2_ENST00000439951.2_Missense_Mutation_p.E20K NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 112 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GGAGTACATGGAGCACGTGTA 0.587000 61 730 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 68 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254390 98254390 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:98254390C>T ENST00000265634.3 + 3 965 c.800C>T c.(799-801)cCc>cTc p.P267L NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 267 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ATTGGCACCCCCTTCTCCTAT 0.607000 40 247 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62868740 62868740 + Silent SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62868740C>T ENST00000536311.1 + 21 3535 c.3171C>T c.(3169-3171)tcC>tcT p.S1057S MYT1_ENST00000328439.1_Silent_p.S1030S Q01538 MYT1_HUMAN myelin transcription factor 1 1030 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCTGCAGTCCCAGGTAGGTG 0.587000 13 98 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162936 42162936 + Missense_Mutation SNP A A G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:42162936A>G ENST00000444063.1 + 12 1474 c.1342A>G c.(1342-1344)Agc>Ggc p.S448G L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S448G|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.S448G|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S516G|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S516G Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 448 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 ACCCCCTCACAGCTTCCTGGT 0.622000 18 47 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62871173 62871173 + Missense_Mutation SNP C C A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62871173C>A ENST00000536311.1 + 22 3599 c.3235C>A c.(3235-3237)Cag>Aag p.Q1079K MYT1_ENST00000328439.1_Missense_Mutation_p.Q1052K Q01538 MYT1_HUMAN myelin transcription factor 1 1052 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CATTGAGGAGCAGAATGAAGC 0.577000 157 963 1.75003e-54 2.03827e-54 1 1 0 OSBPL2 9885 broad.mit.edu 37 20 60847303 60847303 + Silent SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:60847303G>A ENST00000313733.3 + 5 583 c.381G>A c.(379-381)ctG>ctA p.L127L OSBPL2_ENST00000358053.2_Silent_p.L115L|OSBPL2_ENST00000439951.2_Silent_p.L35L NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 127 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CCCAGCCCCTGGAGAGGATGC 0.607000 39 647 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140386991 140386991 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:140386991C>G ENST00000072869.4 + 5 1685 c.1507C>G c.(1507-1509)Cct>Gct p.P503A ADCK2_ENST00000476491.1_Missense_Mutation_p.P503A NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 503 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) GCTGCAGGCCCCTGACCTGAG 0.572000 15 18 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187046 62187046 + Silent SNP G G C TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62187046G>C ENST00000370098.3 + 2 122 c.30G>C c.(28-30)ctG>ctC p.L10L C20orf195_ENST00000370097.1_Silent_p.L10L NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 10 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GCCTGGGCCTGGACAAGATGA 0.647000 16 251 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62853291 62853291 + Nonsense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62853291C>T ENST00000536311.1 + 14 2732 c.2368C>T c.(2368-2370)Cag>Tag p.Q790* MYT1_ENST00000360149.4_Nonsense_Mutation_p.Q465*|MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q763* Q01538 MYT1_HUMAN myelin transcription factor 1 763 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGCAGATGACCAGGAAGTGTC 0.512000 57 316 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238434 100238434 + Silent SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:100238434C>T ENST00000462107.1 - 4 635 c.348G>A c.(346-348)ttG>ttA p.L116L TFR2_ENST00000223051.3_Silent_p.L116L|TFR2_ENST00000431692.1_Silent_p.L116L Q9UP52 TFR2_HUMAN transferrin receptor 2 116 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CACTGACCACCAACACAGAGT 0.602000 37 86 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 78 0.000602214 0.000641067 1 1 0 UBP1 7342 broad.mit.edu 37 3 33481323 33481323 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr3:33481323C>G ENST00000283629.3 - 1 547 c.18G>C c.(16-18)aaG>aaC p.K6N UBP1_ENST00000447368.2_Missense_Mutation_p.K6N|UBP1_ENST00000283628.5_Missense_Mutation_p.K6N NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 6 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 CCTCGTCCATCTTGAGCACCC 0.706000 27 99 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940904 22940904 + Missense_Mutation SNP T T C TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr19:22940904T>C ENST00000397104.3 - 5 1533 c.1534A>G c.(1534-1536)Aac>Gac p.N512D ZNF99_ENST00000596209.1_Missense_Mutation_p.N603D zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GAGAAGTGGTTAAAAGCTTTG 0.388000 24 69 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70209136 70209136 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr18:70209136C>T ENST00000269503.4 - 3 1033 c.260G>A c.(259-261)cGc>cAc p.R87H CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R87H|CBLN2_ENST00000584764.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 87 integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GCTGCCGGAGCGCACGGAGAT 0.672000 7 37 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089288 86089288 + Missense_Mutation SNP A A T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr14:86089288A>T ENST00000330753.4 + 2 2197 c.1430A>T c.(1429-1431)cAc>cTc p.H477L FLRT2_ENST00000554746.1_Missense_Mutation_p.H477L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 477 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GAGAAGCAACACCTGAGCCTG 0.502000 34 73 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60937519 60937519 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:60937519C>G ENST00000252999.3 - 2 453 c.387G>C c.(385-387)caG>caC p.Q129H LAMA5_ENST00000370692.3_Missense_Mutation_p.Q129H|LAMA5_ENST00000370677.3_Missense_Mutation_p.Q129H NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 129 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGGTGGACTCTGCCACCAGC 0.642000 45 345 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60768483 60768483 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:60768483C>T ENST00000370823.3 + 2 25 c.7C>T c.(7-9)Cct>Tct p.P3S MTG2_ENST00000436421.2_Missense_Mutation_p.P3S|MTG2_ENST00000536470.1_Intron NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 GGCCATGGCACCTGCAAGGTG 0.542000 29 540 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15216 15216 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chrM:15216G>A ENST00000361789.2 + 1 470 c.470G>A c.(469-471)gGg>gAg p.157_157insE mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CCCATACATTGGGACAGACCT 0.453000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 14 141 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 6 63 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11589864 11589864 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:11589864G>A ENST00000294484.6 + 15 3088 c.2950G>A c.(2950-2952)Gcc>Acc p.A984T PTCHD2_ENST00000389575.3_Missense_Mutation_p.A984T NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 984 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCGTCTCTCAGCCACCTTCGG 0.642000 15 51 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42237199 42237199 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr6:42237199C>T ENST00000541110.1 - 5 698 c.130G>A c.(130-132)Gga>Aga p.G44R TRERF1_ENST00000372922.4_Missense_Mutation_p.G44R|TRERF1_ENST00000340840.2_Missense_Mutation_p.G44R|TRERF1_ENST00000354325.2_Missense_Mutation_p.G44R|TRERF1_ENST00000372917.4_Missense_Mutation_p.G44R Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 44 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCATCCATTCCGCCCCCTGTA 0.567000 51 82 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2541242 2541242 + Silent SNP C C T rs150441473 byFrequency TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:2541242C>T ENST00000288709.6 - 5 534 c.294G>A c.(292-294)ccG>ccA p.P98P MMEL1_ENST00000502556.1_Silent_p.P107P|MMEL1_ENST00000378412.3_Silent_p.P107P NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 107 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GTTCCGTGGTCGGGTCCATGT 0.597000 50 72 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94476824 94476824 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:94476824G>A ENST00000370225.3 - 39 5664 c.5578C>T c.(5578-5580)Cgg>Tgg p.R1860W ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.R130W NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1860 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) CCACCAAACCGGGCATAGACA 0.642000 27 88 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62867971 62867971 + Silent SNP C C A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:62867971C>A ENST00000536311.1 + 20 3406 c.3042C>A c.(3040-3042)gtC>gtA p.V1014V MYT1_ENST00000328439.1_Silent_p.V987V Q01538 MYT1_HUMAN myelin transcription factor 1 987 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGGATGAGGTCCTCAGTCCAA 0.532000 53 359 1.11015e-26 1.24892e-26 1 1 0 SCP2 6342 broad.mit.edu 37 1 53416510 53416510 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:53416510G>A ENST00000371514.3 + 4 451 c.283G>A c.(283-285)Gct>Act p.A95T SCP2_ENST00000407246.2_Missense_Mutation_p.A71T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000528311.1_Missense_Mutation_p.A14T NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 95 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 CAATAACTGTGCTACTGGTTC 0.408000 43 135 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141557595 141557595 + Missense_Mutation SNP C C G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:141557595C>G ENST00000220592.5 - 13 1832 c.1720G>C c.(1720-1722)Gtg>Ctg p.V574L AGO2_ENST00000519980.1_Missense_Mutation_p.V574L NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 ATGTTGTTCACGCCTCCCAGC 0.647000 25 92 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44839049 44839049 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:44839049G>A ENST00000372262.3 - 6 1583 c.1183C>T c.(1183-1185)Cgg>Tgg p.R395W CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.R395W NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 395 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GAGGGCGGCCGGAACTCGGGG 0.746000 9 181 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4824704 4824704 + Missense_Mutation SNP C C A rs143882013 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr11:4824704C>A ENST00000380382.1 - 1 1143 c.1144G>T c.(1144-1146)Ggg>Tgg p.G382W MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.G303W|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCCTGTCCCCGATCTGTTTG 0.468000 31 61 1.7881e-09 1.98901e-09 1 1 0 CCDC102A 92922 broad.mit.edu 37 16 57559858 57559858 + Missense_Mutation SNP C C T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:57559858C>T ENST00000258214.2 - 3 1013 c.767G>A c.(766-768)cGg>cAg p.R256Q NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 256 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 CAGCCGTAGCCGCAGGGCGGT 0.716000 10 51 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6611721 6611721 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr4:6611721G>A ENST00000285599.3 + 13 2239 c.2203G>A c.(2203-2205)Ggc>Agc p.G735S MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.G684S NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 735 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 AGACAACAACGGCTACCAGAT 0.592000 17 92 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 4 75 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39666977 39666977 + Missense_Mutation SNP T T A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:39666977T>A ENST00000265708.4 - 7 625 c.522A>T c.(520-522)caA>caT p.Q174H ADAM2_ENST00000347580.4_Intron|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.Q174H NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 174 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTGCAAAATCTTGCTGTGGCT 0.264000 7 38 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365235 30365235 + Missense_Mutation SNP T T C TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:30365235T>C ENST00000305596.3 - 4 537 c.362A>G c.(361-363)gAc>gGc p.D121G CD2BP2_ENST00000569466.1_Missense_Mutation_p.D121G NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 121 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 GTCAATGTTGTCCAGCCAGCT 0.607000 13 69 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5222727 5222727 + Missense_Mutation SNP G G A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr19:5222727G>A ENST00000372412.4 - 18 3312 c.3079C>T c.(3079-3081)Cgc>Tgc p.R1027C PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1004C|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1026C|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1026C|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1022C|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1004C Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1026 Fibronectin type-III 7. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTCCGGTAGCGGACGGGGGGG 0.746000 13 37 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127251181 127251181 + Silent SNP G G T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:127251181G>T ENST00000341640.2 - 9 1174 c.969C>A c.(967-969)gcC>gcA p.A323A PAX4_ENST00000463946.1_Silent_p.A321A|PAX4_ENST00000378740.2_Intron|PAX4_ENST00000338516.3_3'UTR NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 335 Transcription repression. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CACTAAGACTGGCCAGGTGAC 0.572000 3 22 0.004672 0.004818 1 1 0 LINC01128 643837 broad.mit.edu 37 1 770788 770788 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:770788delT ENST00000445118.2 + 0 270 NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1 TAATGGAGTATTTTAATCACT 0.527 2 4 --- --- --- --- CROCCP3 114819 broad.mit.edu 37 1 16818078 16818078 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:16818078delA ENST00000263511.4 - 0 721 NR_023386.1 CCAGAGTCCTAAGTATTTGGG 0.537 2 4 --- --- --- --- ESPNP 284729 broad.mit.edu 37 1 17019432 17019433 + RNA INS - - GC rs138548890 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:17019432_17019433insGC ENST00000492551.1 - 0 1938 NR_026567.1 GTACACGCCGTGCGCCAGGCCC 0.713 3 4 --- --- --- --- RP11-435B5.7 0 broad.mit.edu 37 1 143532978 143532979 + RNA INS - - G rs142253815 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr1:143532978_143532979insG ENST00000418607.2 - 0 204 ACTTTTTTTTTGTCTTCATACT 0.322 3 6 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16555186 16555186 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:16555186delT ENST00000427950.1 + 0 83 cccctctccctttttttctcc 0.428 2 4 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58776939 58776940 + RNA INS - - A rs113854469 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:58776939_58776940insA ENST00000452840.1 + 0 195 gactccatctcaaaaaaaaaaa 0.436 2 4 --- --- --- --- AC068282.3 0 broad.mit.edu 37 2 128151234 128151234 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:128151234delT ENST00000433673.1 + 0 56 atcattatgattttttttttc 0.378 2 4 --- --- --- --- AC079305.11 0 broad.mit.edu 37 2 177908329 177908329 + RNA DEL T T - rs67735895 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:177908329delT ENST00000441205.1 - 0 370 tctgccttccttttcctctcc 0.468 2 4 --- --- --- --- LANCL1-AS1 102724820 broad.mit.edu 37 2 211190856 211190856 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr2:211190856delT ENST00000433296.1 + 0 76 AC007970.1_ENST00000420418.1_RNA cagttcattctttagtatgat 0.378 2 4 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98125436 98125436 + RNA DEL G G - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr3:98125436delG ENST00000508616.1 + 0 188 gtcatgaggtggagccaagat 0.443 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19724811 19724814 + RNA DEL AGAG AGAG - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr4:19724811_19724814delAGAG ENST00000511431.1 + 0 288 AAAAAAAAACagagagagagagag 0.377 4 4 --- --- --- --- LOC101929505 101929505 broad.mit.edu 37 5 16389148 16389148 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr5:16389148delA ENST00000513157.1 - 0 1433 gcctatattcaaaaaaaaaaa 0.468 2 4 --- --- --- --- LOC285638 285638 broad.mit.edu 37 5 108607385 108607385 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr5:108607385delA ENST00000512693.1 - 0 4472 cttttgctgtaaagaagctct 0.393 2 4 --- --- --- --- CTB-49A3.2 0 broad.mit.edu 37 5 132531906 132531906 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr5:132531906delT ENST00000509051.1 + 0 75 GGATGATAGCTTTGGCCGTGG 0.597 2 4 --- --- --- --- LINC01276 103106903 broad.mit.edu 37 6 41482044 41482044 + RNA DEL G G - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr6:41482044delG ENST00000416951.1 + 0 339 RP11-328M4.2_ENST00000440194.1_RNA tataggatccgaaggcctggc 0.488 2 4 --- --- --- --- POLR2J4 84820 broad.mit.edu 37 7 44038273 44038274 + RNA INS - - A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:44038273_44038274insA ENST00000427076.1 - 0 444 NR_003655.2 TATTTTTTATCAAAAAAAAAtt 0.460 2 4 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 47068684 47068685 + RNA INS - - A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:47068684_47068685insA ENST00000433337.1 - 0 237 AC004870.3_ENST00000412996.1_RNA gactctgtctcaaaaaaaaaaa 0.485 4 3 --- --- --- --- LOC100289098 100289098 broad.mit.edu 37 7 65959252 65959252 + RNA DEL G G - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:65959252delG ENST00000445681.1 + 0 320 ATAAGCGATCGggccgggcgc 0.532 5 2 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66278612 66278612 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:66278612delA ENST00000457166.1 - 0 875 NR_003934.1 ggcccaatgtaggcggatcac 0.483 2 4 --- --- --- --- RP5-945F2.3 0 broad.mit.edu 37 7 67657307 67657308 + RNA INS - - C rs59309892 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:67657307_67657308insC ENST00000446187.1 - 0 317 tgaatttatgtcttttcaggga 0.386 3 3 --- --- --- --- SEMA3C 10512 broad.mit.edu 37 7 80427480 80427480 + Frame_Shift_Del DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:80427480delA ENST00000265361.3 - 11 1620 c.1059delT c.(1057-1059)ttfs p.F353fs SEMA3C_ENST00000544525.1_Frame_Shift_Del_p.F371fs|SEMA3C_ENST00000536800.1_Frame_Shift_Del_p.F205fs|SEMA3C_ENST00000419255.2_Frame_Shift_Del_p.F353fs NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 353 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTTTGTGGGCAAAAGGCCCAT 0.403 7 126 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101117713 101117713 + RNA DEL A A - rs5886194 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:101117713delA ENST00000313669.7 + 0 577 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 ccccatctctaaaaaaaaaaa 0.517 3 5 --- --- --- --- AC005276.1 0 broad.mit.edu 37 7 125559083 125559083 + RNA DEL T T - rs57510296 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:125559083delT ENST00000411856.1 + 0 248 gcactctcaatttttccatcc 0.418 2 4 --- --- --- --- AC016831.7 0 broad.mit.edu 37 7 130560490 130560490 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr7:130560490delT ENST00000447430.1 + 0 156 CTCAGTATTGTTTTTGGTCTA 0.368 2 4 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 844731 844732 + RNA INS - - G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:844731_844732insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA GGTGGCTGGCAGGGCAGGGTGG 0.713 3 6 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1198253 1198253 + RNA DEL G G - rs72237327 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:1198253delG ENST00000517950.1 - 0 278 AGATCAGTGTGGGAGTGATGG 0.577 2 4 --- --- --- --- RP11-145O15.3 0 broad.mit.edu 37 8 13445687 13445687 + RNA DEL G G - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:13445687delG ENST00000529018.1 - 0 74 ATTACATAATGGCAGAGAAAA 0.403 2 4 --- --- --- --- UBXN8 7993 broad.mit.edu 37 8 30607826 30607826 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:30607826delA ENST00000519246.1 + 0 287 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 ccatctctacaaaaaatacag 0.577 2 4 --- --- --- --- LOC101929268 101929268 broad.mit.edu 37 8 49606134 49606135 + RNA DEL GT GT - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:49606134_49606135delGT ENST00000522575.1 + 0 356 CCAGGATTGCGTGTGTGTGGGG 0.619 2 4 --- --- --- --- RP11-398G24.2 0 broad.mit.edu 37 8 122997977 122997977 + RNA DEL C C - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr8:122997977delC ENST00000523792.1 - 0 160 gccttggcctcccaaagtgct 0.483 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66462754 66462755 + RNA INS - - T rs148782004 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:66462754_66462755insT ENST00000424345.1 + 0 224 gatatttctaattttttgatat 0.312 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66466800 66466800 + RNA DEL G G - rs139943429 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:66466800delG ENST00000424345.1 + 0 1433 CCTCATCAGAGGACCCCAGAT 0.522 5 9 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68402732 68402733 + RNA INS - - TGAAT TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:68402732_68402733insTGAAT ENST00000417843.2 - 0 224 ATCTCACATGATGAAGACTAAA 0.287 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68404895 68404896 + RNA INS - - C TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:68404895_68404896insC ENST00000417843.2 - 0 224 tagcctaccaaccccccaaaaa 0.391 10 14 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68407141 68407142 + RNA INS - - G rs112923191 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr9:68407141_68407142insG ENST00000417843.2 - 0 224 acaacacccaactcttttcaaa 0.381 7 17 --- --- --- --- PIPSL 266971 broad.mit.edu 37 10 95718421 95718422 + RNA INS - - T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr10:95718421_95718422insT ENST00000480546.1 - 0 2875_2876 NR_002319.2 ttctttctttcttttttttttG 0.307 2 4 --- --- --- --- RP11-284H19.1 0 broad.mit.edu 37 12 20516916 20516916 + RNA DEL A A - rs75677125 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:20516916delA ENST00000535755.1 - 0 422 TGGCAGCATTAAAAAAAAAAA 0.348 2 4 --- --- --- --- RP11-428G5.5 0 broad.mit.edu 37 12 32037770 32037771 + RNA INS - - CAGC rs151292976 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:32037770_32037771insCAGC ENST00000535163.1 - 0 37 tgagacagatgcagccgctgct 0.550 4 4 --- --- --- --- FLJ12825 440101 broad.mit.edu 37 12 54503718 54503718 + RNA DEL G G - rs79863277 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:54503718delG ENST00000515617.1 + 0 311 NR_026655.1 GGTAGTCCCCGCCGTGGTTCT 0.607 4 7 --- --- --- --- RP1-71H24.1 0 broad.mit.edu 37 12 113455536 113455537 + RNA INS - - T rs141916386 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:113455536_113455537insT ENST00000552784.1 - 0 19_20 atcacttgaactcaggaggcgg 0.455 4 3 --- --- --- --- RP11-110L15.2 0 broad.mit.edu 37 12 116290374 116290374 + RNA DEL C C - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:116290374delC ENST00000546414.1 - 0 155 GTCTCCTAAGCCCATCTTCCT 0.393 2 4 --- --- --- --- LOC101927592 101927592 broad.mit.edu 37 12 127420271 127420272 + RNA DEL AG AG - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:127420271_127420272delAG ENST00000512624.2 - 0 685 GTGCAAGCACAGAATGCTTCCA 0.431 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962844 131962845 + RNA DEL CA CA - rs1405523 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr12:131962844_131962845delCA ENST00000535133.1 - 0 195 ggcacacgtgcacacacacaca 0.465 5 2 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20113546 20113546 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr14:20113546delA ENST00000548261.1 + 0 245 tgcagccttgacctcctgggc 0.438 6 1 --- --- --- --- LOC102723461 102723461 broad.mit.edu 37 15 21960617 21960618 + RNA INS - - T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:21960617_21960618insT ENST00000500487.1 - 0 254 AGTTGTATCAATTTTTTTTTCT 0.317 2 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25227495 25227495 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:25227495delA ENST00000551631.2 + 0 798 SNHG14_ENST00000551361.1_RNA NR_001293.1 CTCTCGGATTAAAAAAAAAAA 0.398 2 4 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45748477 45748477 + RNA DEL C C - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:45748477delC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA GTCTGGGCAGCAGGTTGTGGG 0.622 2 4 --- --- --- --- AC009997.1 0 broad.mit.edu 37 15 56053226 56053227 + RNA INS - - A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:56053226_56053227insA ENST00000408291.1 - 0 73_74 gagtccatctcaaaaaaaaaaa 0.455 3 3 --- --- --- --- LOC101928955 101928955 broad.mit.edu 37 15 63189489 63189489 + RNA DEL G G - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:63189489delG ENST00000557900.1 + 0 332 AGACCAAAGAGGCAGAGCCGC 0.602 2 4 --- --- --- --- RP11-386M24.3 0 broad.mit.edu 37 15 93140949 93140949 + RNA DEL C C - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr15:93140949delC ENST00000555864.1 + 0 206 GGACCTTCCTCCCCACTCCCA 0.493 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5704792 5704793 + RNA DEL CT CT - rs62014430 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:5704792_5704793delCT ENST00000569895.1 + 0 403 TCCTTCTTTCctctctctctct 0.535 2 4 --- --- --- --- RP11-279O17.3 0 broad.mit.edu 37 16 8365834 8365835 + RNA INS - - A rs76999118 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:8365834_8365835insA ENST00000564185.1 + 0 223 gagactctgtcaaaaaaaaaaa 0.475 2 4 --- --- --- --- CTD-3037G24.3 0 broad.mit.edu 37 16 12679963 12679964 + RNA DEL AT AT - rs149339607 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:12679963_12679964delAT ENST00000564505.1 - 0 307 ATGCAAACACATAAGCACTATA 0.386 6 1 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32094264 32094264 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:32094264delT ENST00000566806.1 - 0 499 gtgggtatcatgaaaattatg 0.443 2 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 59016516 59016517 + RNA INS - - T TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:59016516_59016517insT ENST00000500117.1 + 0 679 gtttttctgcctttttttttcc 0.426 2 4 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72638767 72638768 + RNA INS - - A TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:72638767_72638768insA ENST00000561611.2 - 0 113 ccacacatttgaaaaaaaaaaa 0.322 2 4 --- --- --- --- ZNRF1 84937 broad.mit.edu 37 16 75033786 75033787 + Frame_Shift_Ins INS - - G TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr16:75033786_75033787insG ENST00000335325.4 + 1 859_860 c.217_218insG c.(217-219)cccfs p.P73fs ZNRF1_ENST00000567962.1_Frame_Shift_Ins_p.P73fs|ZNRF1_ENST00000320619.6_Frame_Shift_Ins_p.P73fs|ZNRF1_ENST00000566250.1_Frame_Shift_Ins_p.P73fs NM_032268.4 NP_115644.1 Q8ND25 ZNRF1_HUMAN zinc and ring finger 1, E3 ubiquitin protein ligase 73 cell junction|endosome|lysosome|synaptic vesicle membrane ligase activity|protein binding|zinc ion binding breast(1) 1 TGGCCTCTACACCCCCGCCTCC 0.743 2 4 --- --- --- --- MYHAS 100128560 broad.mit.edu 37 17 10484500 10484500 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:10484500delT ENST00000587182.1 + 0 231 CTC-297N7.7_ENST00000579914.1_RNA GCTGAAGTTGTTCATCAAACC 0.537 2 4 --- --- --- --- AC015922.5 0 broad.mit.edu 37 17 15747583 15747583 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:15747583delA ENST00000584636.1 + 0 316 actgaacattaaaaaaAAAAT 0.418 4 8 --- --- --- --- DHRS7B 25979 broad.mit.edu 37 17 21094331 21094333 + In_Frame_Del DEL GAA GAA - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:21094331_21094333delGAA ENST00000395511.3 + 7 1163_1165 c.843_845delGAA c.(841-846)ggg>gg p.GK281del DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del|DHRS7B_ENST00000581463.1_Intron NM_015510.4 NP_056325.2 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 281 integral to membrane|peroxisomal membrane binding|oxidoreductase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2) 7 CTGCTGTGGGGAAGAAGAAGAAA 0.507 7 1398 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833644 56833646 + In_Frame_Del DEL GAG GAG - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:56833644_56833646delGAG ENST00000308249.2 + 1 415_417 c.286_288delGAG c.(286-288)del p.E100del NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 100 Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ggttgagggtgaggaggaggagg 0.783 3 6 --- --- --- --- RP13-516M14.2 0 broad.mit.edu 37 17 80173535 80173535 + RNA DEL C C - rs112012232 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr17:80173535delC ENST00000581303.1 + 0 1371 tccttccctgccccccacact 0.701 3 3 --- --- --- --- RP11-172F10.1 0 broad.mit.edu 37 18 4986865 4986866 + RNA INS - - CT rs148493413 by1000genomes TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr18:4986865_4986866insCT ENST00000584204.1 - 0 243 aggtctggcccgtgtacagcca 0.619 4 3 --- --- --- --- LINC00669 647946 broad.mit.edu 37 18 37279625 37279625 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr18:37279625delA ENST00000591629.1 - 0 282 NR_024391.1 AGGGAAAAAGAAAAAAAAAAA 0.378 2 4 --- --- --- --- CTC-400I9.2 0 broad.mit.edu 37 19 31352217 31352217 + RNA DEL A A - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr19:31352217delA ENST00000585364.1 + 0 106 GCATCCGGGGAAGGGAATGAA 0.473 2 4 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 43006783 43006783 + RNA DEL T T - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr19:43006783delT ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA NR_073179.1 gcgaattctgttttttttttt 0.488 3 4 --- --- --- --- FAM182A 284800 broad.mit.edu 37 20 26054990 26054992 + RNA DEL CAC CAC - rs111574025 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:26054990_26054992delCAC ENST00000376398.2 + 0 819 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 acttcattatcaccacctCcacc 0.458 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29588147 29588148 + RNA INS - - T rs73621635 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:29588147_29588148insT ENST00000432067.1 - 0 152 attttgatgccttttttttctc 0.356 10 7 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29588351 29588352 + RNA DEL GA GA - rs111658283 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:29588351_29588352delGA ENST00000432067.1 - 0 152 ttattttgttgagagttttatc 0.267 7 18 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29591671 29591673 + RNA DEL AGA AGA - rs73620377 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:29591671_29591673delAGA ENST00000432067.1 - 0 152 CAAAAGCAGCAGAAGTTAGCTTT 0.424 15 9 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29593345 29593346 + RNA DEL AG AG - rs113305967 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr20:29593345_29593346delAG ENST00000432067.1 - 0 74 aaattgactaagacaATTGGTG 0.347 6 5 --- --- --- --- TEKT4P2 100132288 broad.mit.edu 37 21 9926786 9926788 + RNA DEL AGT AGT - rs71294828 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr21:9926786_9926788delAGT ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 CGGACTGTGGAGTAGATCACAGA 0.621 3 4 --- --- --- --- TEKT4P2 100132288 broad.mit.edu 37 21 9963668 9963669 + RNA INS - - G rs28400380 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr21:9963668_9963669insG ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 ggaggatttttttttttctgag 0.495 4 7 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11040375 11040385 + RNA DEL CTGATACCAAA CTGATACCAAA - rs113804557 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr21:11040375_11040385delCTGATACCAAA ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATACATGTTctgataccaaactgataccaa 0.389 5 9 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11088897 11088898 + RNA INS - - G rs145017981 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr21:11088897_11088898insG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATACAAAAAAAGTTTCCAGTGA 0.287 6 8 --- --- --- --- LL22NC03-86D4.1 0 broad.mit.edu 37 22 34531561 34531562 + RNA DEL TT TT - rs143306650 TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr22:34531561_34531562delTT ENST00000412218.1 + 0 198 GTACAGACTCTTTTCCCAACAC 0.416 3 3 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-EB-A5VU-01A-21D-A32N-08 TCGA-EB-A5VU-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f6382eb-14ec-45a5-9dd7-4cccb8328d7b 9cf54713-0f42-4733-ab7a-7da522344c59 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 246 --- --- --- ---