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 IGHV4-61 28391 broad.mit.edu 37 14 107095582 107095582 + RNA SNP G G T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:107095582G>T ENST00000390630.2 - 0 80 AGGAGGTCCAGGACTCTCAGA 0.502000 3 37 0.00448238 0.00465478 1 1 0 SPTB 6710 broad.mit.edu 37 14 65237698 65237698 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:65237698G>A ENST00000389722.3 - 26 5756 c.5703C>T c.(5701-5703)gaC>gaT p.D1901D SPTB_ENST00000542895.1_Silent_p.D1901D|SPTB_ENST00000556626.1_Silent_p.D1901D|SPTB_ENST00000389720.3_Silent_p.D1901D|SPTB_ENST00000389721.5_Silent_p.D1901D NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1901 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TATCCGCCGTGTCCACTAGCT 0.642000 17 52 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797571 52797571 + Silent SNP C C T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr12:52797571C>T ENST00000257974.2 - 2 611 c.534G>A c.(532-534)cgG>cgA p.R178R NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 178 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) AGTCCAGCTGCCGCCGAAGGG 0.592000 4 116 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72017892 72017892 + Missense_Mutation SNP T T C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr12:72017892T>C ENST00000378743.3 - 23 4856 c.4498A>G c.(4498-4500)Att>Gtt p.I1500V NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1500 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ACCTGTAAAATTGCCAGTGCA 0.368000 7 369 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095585 107095585 + RNA SNP C C G TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:107095585C>G ENST00000390630.2 - 0 77 AGGTCCAGGACTCTCAGAAAG 0.507000 3 37 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215731 8215731 + Missense_Mutation SNP G G C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr17:8215731G>C ENST00000361926.3 + 2 484 c.374G>C c.(373-375)gGg>gCg p.G125A ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G125A NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 125 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AAGCCGTCTGGGTCACCCTGC 0.667000 7 129 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108147534 108147534 + Missense_Mutation SNP G G T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:108147534G>T ENST00000273353.3 - 28 3623 c.3567C>A c.(3565-3567)gaC>gaA p.D1189E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1189 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTCTTCCATGTCTCGGTGCA 0.493000 6 89 2.7689e-08 3.11501e-08 1 1 0 NCAPD3 23310 broad.mit.edu 37 11 134029868 134029868 + Silent SNP C C T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:134029868C>T ENST00000534548.2 - 29 3850 c.3786G>A c.(3784-3786)caG>caA p.Q1262Q NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1262 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CCTGGACCAGCTGTTCCTGGT 0.552000 26 55 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29624070 29624070 + Missense_Mutation SNP G G A rs79198850 TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr20:29624070G>A ENST00000278882.3 + 4 474 c.94G>A c.(94-96)Gct>Act p.A32T FRG1B_ENST00000358464.4_Missense_Mutation_p.A32T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A37T p.A32T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GCAGTTTATGGCTGTCAAATT 0.279000 3 21 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153800617 153800617 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:153800617G>A ENST00000368655.4 - 2 450 c.207C>T c.(205-207)ggC>ggT p.G69G NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 69 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGACACCACTGCCATCCTGTT 0.478000 9 153 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325696 152325696 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:152325696G>A ENST00000388718.5 - 3 4638 c.4566C>T c.(4564-4566)caC>caT p.H1522H FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1522 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTTTGGCCGTGAGTGTGTC 0.498000 7 393 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215910616 215910616 + Missense_Mutation SNP A A T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:215910616A>T ENST00000272895.7 - 7 1036 c.817T>A c.(817-819)Ttt>Att p.F273I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 273 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCATTCTGAAACACATTTGGA 0.358000 35 52 0 0 1 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44201956 44201956 + Missense_Mutation SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr1:44201956G>A ENST00000262915.3 + 2 200 c.23G>A c.(22-24)cGc>cAc p.R8H ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531816.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R8H|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R8H|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.R8H NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 8 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) GTATTTGTGCGCAATCTGCTG 0.413000 4 173 0 0 1 0 0 GATA4 2626 broad.mit.edu 37 8 11606509 11606509 + Missense_Mutation SNP C C T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr8:11606509C>T ENST00000335135.4 + 3 1256 c.698C>T c.(697-699)aCg>aTg p.T233M GATA4_ENST00000528712.1_Missense_Mutation_p.T27M|GATA4_ENST00000532059.1_Missense_Mutation_p.T234M NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 233 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.T233M(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CGAGATGGGACGGGTCACTAT 0.587000 4 87 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134183876 134183876 + Missense_Mutation SNP G G T TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:134183876G>T ENST00000431683.2 + 17 1621 c.1621G>T c.(1621-1623)Ggc>Tgc p.G541C NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 541 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TTCCCTGGAGGGCTTTACCAT 0.488000 4 23 1.23904e-05 1.33816e-05 1 1 0 BCAS1 8537 broad.mit.edu 37 20 52674691 52674691 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr20:52674691G>A ENST00000395961.3 - 3 241 c.75C>T c.(73-75)gaC>gaT p.D25D BCAS1_ENST00000371440.3_Silent_p.D25D|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371435.2_Silent_p.D25D NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 25 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CAGACGCGTTGTCCTGAAACA 0.502000 11 46 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30047543 30047543 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:30047543G>A ENST00000331968.5 - 17 2687 c.2458C>T c.(2458-2460)Ctg>Ttg p.L820L PRKD1_ENST00000415220.2_Silent_p.L828L NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 820 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTTACTTGCAGCAAATTGTTG 0.333000 29 35 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106109985 106109985 + RNA SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr14:106109985G>A ENST00000390545.2 - 0 632 TGGTTTTCTCGATGGGGGCTG 0.627000 10 316 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263681 1263681 + Nonsense_Mutation SNP C C A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:1263681C>A ENST00000447027.1 + 31 5638 c.5580C>A c.(5578-5580)tgC>tgA p.C1860* RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.C1857* Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1857 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGCTGACCTGCAAGAACGAAG 0.592000 3 40 0.115264 0.115264 1 1 0 APOL2 23780 broad.mit.edu 37 22 36624072 36624072 + Missense_Mutation SNP G G C TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:36624072G>C ENST00000249066.6 - 6 868 c.392C>G c.(391-393)aCc>aGc p.T131S APOL2_ENST00000358502.5_Missense_Mutation_p.T131S|APOL2_ENST00000451256.2_Missense_Mutation_p.T243S NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 131 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 GCCGAGGAGGGTCAGGATGCC 0.582000 16 48 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199407 4199407 + Missense_Mutation SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr4:4199407G>A ENST00000296358.4 - 5 1178 c.1154C>T c.(1153-1155)cCg>cTg p.P385L NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 385 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTTGCGGGCCGGATTTTTGGA 0.587000 5 69 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 63 0 0 1 0 0 SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 7 121 --- --- --- --- SH3BP5 9467 broad.mit.edu 37 3 15373833 15373835 + In_Frame_Del DEL TCC TCC - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr3:15373833_15373835delTCC ENST00000383791.3 - 1 301_303 c.81_83delGGA c.(79-84)gaa>ga p.EE27del SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000253688.5_5'UTR NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 27 Glu-rich. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 catcccctcttcctcctcctcct 0.719 3 5 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32444350 32444352 + In_Frame_Del DEL GCC GCC - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr5:32444350_32444352delGCC ENST00000265069.8 - 2 222_224 c.120_122delGGC c.(118-123)gct>gc p.AA42del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 42 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TTGGgccgcagccgccgccgccg 0.680 2 4 --- --- --- --- FABP5P3 220832 broad.mit.edu 37 7 152140121 152140121 + RNA DEL T T - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr7:152140121delT ENST00000477993.1 + 0 876 NR_002935.1 TGTTTCTTTCTTTTTTTTTTC 0.328 2 4 --- --- --- --- ITGB1 3688 broad.mit.edu 37 10 33217043 33217045 + In_Frame_Del DEL TCC TCC - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr10:33217043_33217045delTCC ENST00000396033.2 - 5 659_661 c.524_526delGGA c.(523-528)att>a p.RI175del ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.RI175del|ITGB1_ENST00000302278.3_In_Frame_Del_p.RI175del|ITGB1_ENST00000374956.4_In_Frame_Del_p.RI175del NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 175 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) TCCGAAGTAATCCTCCTCATTTC 0.355 45 107 --- --- --- --- CBL 867 broad.mit.edu 37 11 119077233 119077235 + In_Frame_Del DEL CAC CAC - TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr11:119077233_119077235delCAC ENST00000264033.4 + 1 482_484 c.106_108delCAC c.(106-108)del p.H42del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 42 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTTCCAGCCGcaccaccaccacc 0.675 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 2 4 --- --- --- --- snoU13 0 broad.mit.edu 37 13 20449422 20449423 + RNA INS - - A TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr13:20449422_20449423insA ENST00000459056.1 + 0 96_97 gcacattactgaaaaaaaaaat 0.446 3 4 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-RW-A686-06A-11D-A35D-08 TCGA-RW-A686-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 779079b5-a036-417c-8bbe-903d3272bce9 b02dc736-4433-4a57-99f0-6ca1e83e00b3 g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 3 4 --- --- --- ---