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 ADRA2B 151 broad.mit.edu 37 2 96781258 96781258 + Missense_Mutation SNP C C A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr2:96781258C>A ENST00000409345.3 - 1 726 c.631G>T c.(631-633)Ggg>Tgg p.G211W NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 211 G -> A (in dbSNP:rs9333568). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CCAGGCCCCCCCTTGGCCCTG 0.622000 13 29 6.53275e-17 7.74252e-17 1 1 0 PCDHB16 0 broad.mit.edu 37 5 140563687 140563687 + Missense_Mutation SNP C C T TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr5:140563687C>T ENST00000361016.2 + 1 2708 c.1553C>T c.(1552-1554)tCg>tTg p.S518L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTCAGGTCGCTGGACTAC 0.697000 4 33 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130289047 130289047 + Silent SNP C C A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr11:130289047C>A ENST00000257359.6 - 2 1567 c.861G>T c.(859-861)ggG>ggT p.G287G NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 287 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCAGTGTAAGCCCCCCATTGT 0.557000 80 184 3.00245e-22 3.69532e-22 1 1 0 ZFP36 7538 broad.mit.edu 37 19 39898883 39898883 + Silent SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr19:39898883G>A ENST00000597629.1 + 2 617 c.543G>A c.(541-543)ccG>ccA p.P181P ZFP36_ENST00000248673.3_Silent_p.P175P P26651 TTP_HUMAN ZFP36 ring finger protein 175 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGCGGCCCCGGGCCACCCTC 0.667000 48 96 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138869347 138869347 + Missense_Mutation SNP C C G rs147128476 TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chrX:138869347C>G ENST00000370557.1 - 15 2604 c.1577G>C c.(1576-1578)aGa>aCa p.R526T ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.R529T|ATP11C_ENST00000359686.2_Missense_Mutation_p.R529T|ATP11C_ENST00000361648.2_Missense_Mutation_p.R529T|ATP11C_ENST00000370543.1_Missense_Mutation_p.R529T Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 529 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TATTTCTTTTCTTTGGTTCTC 0.348000 22 59 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18807364 18807364 + Silent SNP A A G TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chrX:18807364A>G ENST00000361511.4 + 13 1532 c.1038A>G c.(1036-1038)gaA>gaG p.E346E PPEF1_ENST00000544635.1_Silent_p.E281E|PPEF1_ENST00000543630.1_Silent_p.E346E|PPEF1_ENST00000359763.6_Silent_p.E293E|PPEF1_ENST00000349874.5_Silent_p.E346E NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 346 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) CTCCTACTGAACACTTAACAG 0.418000 7 122 0 0 1 0 0 DNAJB9 4189 broad.mit.edu 37 7 108213643 108213643 + Missense_Mutation SNP T T C TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr7:108213643T>C ENST00000249356.3 + 3 1064 c.518T>C c.(517-519)aTg>aCg p.M173T DNAJB9_ENST00000465725.1_Intron NM_012328.2 NP_036460.1 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 173 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 TTTGAAGATATGGAGAAAATG 0.393000 52 93 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924122 105924122 + Missense_Mutation SNP C C T TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr2:105924122C>T ENST00000393359.2 - 2 1063 c.637G>A c.(637-639)Gtc>Atc p.V213I TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V213I Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 213 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 ATCCTCTTGACGATCGGCGGC 0.592000 13 161 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 30 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 11 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480404 32480404 + Missense_Mutation SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr12:32480404G>A ENST00000548411.1 + 5 1196 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K BICD1_ENST00000281474.5_Missense_Mutation_p.E339K NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 339 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGTAGAGCGGGAAAAGGCCAT 0.507000 31 84 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C C A rs4041777 TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr21:11012916C>A ENST00000415664.2 - 8 1004 c.e8+1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TCAAATTTTACCTAGCTTTTT 0.299000 27 39 3.6726e-16 4.19726e-16 1 1 0 CATSPERD 257062 broad.mit.edu 37 19 5749174 5749174 + Missense_Mutation SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr19:5749174G>A ENST00000381624.3 + 11 1028 c.967G>A c.(967-969)Gtg>Atg p.V323M CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 323 integral to membrane TCTGGGCATCGTGCCAAGTTC 0.438000 24 41 0 0 1 0 0 MT-TL1 0 broad.mit.edu 37 MT 3244 3244 + RNA SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chrM:3244G>A ENST00000386347.1 + 0 15 aagatggcagagcccggtaat 0.438000 10 2 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55594786 55594786 + Missense_Mutation SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr19:55594786G>A ENST00000201647.6 + 13 1311 c.1255G>A c.(1255-1257)Gag>Aag p.E419K EPS8L1_ENST00000540810.1_Missense_Mutation_p.E355K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E73K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E401K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E292K NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 419 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ATACAGACCCGAGTTCTTCAG 0.672000 3 17 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553709 19553709 + Missense_Mutation SNP T T G TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr14:19553709T>G ENST00000409832.3 + 1 345 c.293T>G c.(292-294)aTg>aGg p.M98R NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 98 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGGAGCAAGATGGGCAAGTGG 0.622000 43 395 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342453 122342453 + Missense_Mutation SNP C C T TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr7:122342453C>T ENST00000434824.1 - 1 568 c.352G>A c.(352-354)Gtg>Atg p.V118M CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 118 PA. integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 TCTGCTGCCACGTTGATTTTA 0.483000 31 271 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 2 4 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCT rs58327065 TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr1:154842199_154842200insGCT ENST00000271915.3 - 1 556_557 c.241_242insAGC c.(241-243)acc>AGCacc p.80_81insS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 2 4 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)gcfs p.S277fs SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 10 277 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 2 4 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 3 5 --- --- --- ---