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 C11orf82 220042 broad.mit.edu 37 11 82645030 82645030 + Missense_Mutation SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:82645030G>A ENST00000533655.1 + 6 2862 c.2650G>A c.(2650-2652)Ggt>Agt p.G884S C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 884 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CCAAGGCATAGGTCTAGGGAA 0.398000 4 46 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 94 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168890 142168890 + RNA SNP C C T rs143671051 by1000genomes TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr7:142168890C>T ENST00000454561.2 - 0 155 GGGCTTGGTCCTCCTGGGGAA 0.592000 3 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065747 9065747 + Silent SNP A A G TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr19:9065747A>G ENST00000397910.4 - 3 21902 c.21699T>C c.(21697-21699)acT>acC p.T7233T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7235 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAATTCTGCTAGTCTCCAAGA 0.478000 4 147 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130408639 130408639 + Missense_Mutation SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:130408639G>A ENST00000370904.1 - 24 4568 c.3658C>T c.(3658-3660)Cgc>Tgc p.R1220C IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C|IGSF1_ENST00000361420.3_Missense_Mutation_p.R1229C|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1229 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GCCTGGAGGCGGTAGCTGCAG 0.512000 58 137 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72081809 72081809 + RNA SNP T T C TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr7:72081809T>C ENST00000438125.1 - 0 1246 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GAACTTTCTCTGCAGTAGGTA 0.498000 6 55 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47780342 47780342 + Missense_Mutation SNP C C G TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr17:47780342C>G ENST00000240333.6 - 8 915 c.794G>C c.(793-795)gGt>gCt p.G265A SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A P78383 S35B1_HUMAN solute carrier family 35, member B1 265 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 GGTCAGGGGACCAAAATACAC 0.473000 14 27 0 0 1 0 0 SCO2 9997 broad.mit.edu 37 22 50962137 50962137 + Missense_Mutation SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr22:50962137C>T ENST00000543927.1 - 2 910 c.704G>A c.(703-705)gGc>gAc p.G235D SCO2_ENST00000535425.1_Missense_Mutation_p.G235D|SCO2_ENST00000252785.3_Missense_Mutation_p.G235D|SCO2_ENST00000395693.3_Missense_Mutation_p.G235D NM_001169109.1 NP_001162580.1 O43819 SCO2_HUMAN SCO2 cytochrome c oxidase assembly protein 235 Thioredoxin. cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding endometrium(1)|lung(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGTGAAGAGGCCGTCAGGGTT 0.582000 5 97 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 3 13 0 0 1 0 0 FAM127C 441518 broad.mit.edu 37 X 134156379 134156379 + Silent SNP G G T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:134156379G>T ENST00000391440.1 - 1 180 c.111C>A c.(109-111)acC>acA p.T37T NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 37 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) GGAGCCGGTCGGTATCGCCAT 0.632000 5 98 0.000602214 0.000602214 1 1 0 NFE2 4778 broad.mit.edu 37 12 54686887 54686887 + Silent SNP C C A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr12:54686887C>A ENST00000540264.2 - 2 902 c.393G>T c.(391-393)ctG>ctT p.L131L RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L131L|NFE2_ENST00000553070.1_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L Q16621 NFE2_HUMAN nuclear factor, erythroid 2 131 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GCCCTGCTGGCAGCCCAATGT 0.577000 4 99 2.56e-06 2.78261e-06 1 1 0 ZDBF2 57683 broad.mit.edu 37 2 207172767 207172767 + Missense_Mutation SNP T T A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr2:207172767T>A ENST00000374423.3 + 5 3901 c.3515T>A c.(3514-3516)gTc>gAc p.V1172D NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1172 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CAGTCAATAGTCAATCGACCT 0.368000 6 61 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110435356 110435356 + Splice_Site SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:110435356G>A ENST00000519681.1 + 13 1337 c.893_splice c.e13-1 p.A299_splice PAK3_ENST00000446737.1_Splice_Site_p.A278_splice|PAK3_ENST00000372007.4_Splice_Site_p.A278_splice|PAK3_ENST00000372010.1_Splice_Site_p.A293_splice|PAK3_ENST00000360648.4_Splice_Site_p.A314_splice|PAK3_ENST00000425146.1_Splice_Site_p.A278_splice|PAK3_ENST00000417227.1_Splice_Site_p.A299_splice|PAK3_ENST00000518291.1_Splice_Site_p.A314_splice|PAK3_ENST00000262836.4_Splice_Site_p.A293_splice O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 293 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CCTTCACAGGGCATCAGGTAC 0.308000 TSP Lung(19;0.15) 4 116 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66252646 66252646 + Silent SNP G G A rs146040863 byFrequency TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:66252646G>A ENST00000532677.1 + 3 731 c.330G>A c.(328-330)gcG>gcA p.A110A DPP3_ENST00000360510.2_Silent_p.A91A|DPP3_ENST00000453114.1_Silent_p.A91A|DPP3_ENST00000541961.1_Silent_p.A91A|DPP3_ENST00000530165.1_Intron|DPP3_ENST00000531863.1_Silent_p.A111A NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 91 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity p.A91A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CCCCTCAGGCGTTCCTGGTCT 0.587000 3 55 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112021835 112021835 + Missense_Mutation SNP C C A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chrX:112021835C>A ENST00000371959.3 - 11 3214 c.3215G>T c.(3214-3216)gGa>gTa p.G1072V AMOT_ENST00000524145.1_Missense_Mutation_p.G1072V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|AMOT_ENST00000371962.1_Missense_Mutation_p.G840V NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 1072 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 AGGCTCTTGTCCCAGGATCTG 0.408000 73 279 5.04879e-28 5.73726e-28 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 3 31 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6645532 6645532 + Missense_Mutation SNP C C T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr11:6645532C>T ENST00000299441.3 - 21 7786 c.7375G>A c.(7375-7377)Gct>Act p.A2459T NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2459 Cadherin 23. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGCCTGGAGCCCCGTGGTCT 0.617000 3 4 0 0 1 0 0 PTMA 5757 broad.mit.edu 37 2 232574915 232574915 + Frame_Shift_Del DEL G G - TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr2:232574915delG ENST00000410064.1 + 1 425 c.27delG c.(25-27)gtfs p.V9fs PTMA_ENST00000409683.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000341369.7_Intron|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409115.3_Intron P06454 PTMA_HUMAN prothymosin, alpha 0 transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CTGCCGGGGTGGCGGCAGTGG 0.721 2 4 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) 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) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 6 10 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708817 180708818 + RNA INS - - T TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr5:180708817_180708818insT ENST00000412295.2 + 0 238 gcggtaggcgggggctggagca 0.713 2 4 --- --- --- --- SLC35B2 347734 broad.mit.edu 37 6 44224447 44224447 + Frame_Shift_Del DEL G G - TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr6:44224447delG ENST00000393812.3 - 2 323 c.180delC c.(178-180)ttfs p.F60fs SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Frame_Shift_Del_p.F60fs NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 60 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTTCCGCCTGAAGTACTGCA 0.547 11 213 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-RM-A68W-01A-11D-A35D-08 TCGA-RM-A68W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6c0f7a7-d270-4627-a3fa-cf8e7de87dae c2e446cd-63be-4778-9f3c-5f7e4d1adc52 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 2 4 --- --- --- ---