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 ARID1B 57492 broad.mit.edu 37 6 157525128 157525128 + Missense_Mutation SNP C C A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr6:157525128C>A ENST00000346085.5 + 19 5024 c.5023C>A c.(5023-5025)Cag>Aag p.Q1675K ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1662K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1662 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAATCTCTCCCAGGTAAGCCA 0.438000 6 395 0.00198382 0.00519897 0.001984 1 0 BRICD5 283870 broad.mit.edu 37 16 2260148 2260148 + Silent SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr16:2260148C>T ENST00000328540.3 - 3 1431 c.315G>A c.(313-315)gcG>gcA p.A105A BRICD5_ENST00000562360.1_Silent_p.A105A|BRICD5_ENST00000566018.1_Silent_p.A105A NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGAACAGCACCGCCCAGCTGT 0.711000 7 9 0 0 0.001984 0 0 NBPF22P 0 broad.mit.edu 37 5 85592262 85592262 + RNA SNP C C A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr5:85592262C>A ENST00000590707.1 + 0 1561 NR_003719.2 TTGATGACTTCAAGCCACTAT 0.433000 5 5 0.000602214 0.00176032 0.000602 1 0 YEATS2 55689 broad.mit.edu 37 3 183518272 183518272 + Missense_Mutation SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr3:183518272C>T ENST00000305135.5 + 24 3539 c.3344C>T c.(3343-3345)aCa>aTa p.T1115I NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1115 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAACCAGAAACACCTGGACCG 0.473000 16 51 0 0 0.006122 0 0 ATMIN 23300 broad.mit.edu 37 16 81078068 81078068 + Missense_Mutation SNP A A T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr16:81078068A>T ENST00000566488.1 + 3 2460 c.1497A>T c.(1495-1497)gaA>gaT p.E499D ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000299575.4_Missense_Mutation_p.E655D O43313 ATMIN_HUMAN ATM interactor 655 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AAGAGAGTGAACTTAGCACCA 0.502000 6 106 0 0 0.003080 0 0 IFNE 338376 broad.mit.edu 37 9 21481080 21481080 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr9:21481080C>G ENST00000448696.3 - 1 1232 c.614G>C c.(613-615)aGa>aCa p.R205T MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 205 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 CCTCGGGCTTCTAAACTCTGT 0.413000 4 195 0 0 0.000248 0 0 KCNV2 169522 broad.mit.edu 37 9 2718675 2718675 + Silent SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr9:2718675C>T ENST00000382082.3 + 1 1174 c.936C>T c.(934-936)ttC>ttT p.F312F NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 312 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GCATGGGCTTCTTCACGCTCG 0.687000 5 64 0 0 0.001168 0 0 PTPRO 5800 broad.mit.edu 37 12 15713197 15713197 + Missense_Mutation SNP T T C rs150693746 byFrequency TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr12:15713197T>C ENST00000281171.4 + 17 3028 c.2698T>C c.(2698-2700)Tat>Cat p.Y900H PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000544244.1_Intron NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 900 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TTTGGCATTTTATATTAATCC 0.313000 3 120 0 0 0.000248 0 0 PRSS12 8492 broad.mit.edu 37 4 119229634 119229634 + Missense_Mutation SNP T T C TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr4:119229634T>C ENST00000296498.3 - 8 1870 c.1588A>G c.(1588-1590)Act>Gct p.T530A NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 530 SRCR 4. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 TCCTTATCAGTCCATCCATCA 0.408000 3 124 0 0 0.004672 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 40 0 0 0.000248 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160774 12160774 + Missense_Mutation SNP G G A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr10:12160774G>A ENST00000263035.4 + 15 2491 c.2429G>A c.(2428-2430)gGc>gAc p.G810D NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 810 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.G810D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTCTGCTCCGGCAAACATTTC 0.483000 5 278 0 0 0.000602 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 112 0 0 0.000248 0 0 CCDC129 223075 broad.mit.edu 37 7 31682443 31682443 + Missense_Mutation SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr7:31682443A>G ENST00000319386.3 + 11 2008 c.1015A>G c.(1015-1017)Agc>Ggc p.S339G CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000407970.3_Missense_Mutation_p.S487G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 487 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GTCTTTTTCAAGCCAAGAAGC 0.512000 3 162 0 0 0.004672 0 0 TPM3 7170 broad.mit.edu 37 1 154145568 154145568 + Missense_Mutation SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr1:154145568A>G ENST00000368533.3 - 3 428 c.376T>C c.(376-378)Tat>Cat p.Y126H TPM3_ENST00000368530.2_Missense_Mutation_p.Y163H|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H NM_001043352.1|NM_001278188.1|NM_153649.3 NP_001036817.1|NP_001265117.1|NP_705935.1 P06753 TPM3_HUMAN tropomyosin 3 162 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) ACCTCTTCATACTTCCTATCT 0.428000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 47 89 0 0 0.003610 0 0 ATMIN 23300 broad.mit.edu 37 16 81078069 81078069 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr16:81078069C>G ENST00000566488.1 + 3 2461 c.1498C>G c.(1498-1500)Ctt>Gtt p.L500V ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000299575.4_Missense_Mutation_p.L656V O43313 ATMIN_HUMAN ATM interactor 656 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AGAGAGTGAACTTAGCACCAT 0.502000 6 110 0 0 0.003080 0 0 SCN10A 6336 broad.mit.edu 37 3 38755465 38755465 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr3:38755465C>G ENST00000449082.2 - 21 3787 c.3788G>C c.(3787-3789)cGa>cCa p.R1263P NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1263 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCTTCAAATCGAGAAAGAGC 0.537000 8 86 0 0 0.003080 0 0 XPR1 9213 broad.mit.edu 37 1 180651511 180651511 + Silent SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr1:180651511C>T ENST00000367590.4 + 2 283 c.85C>T c.(85-87)Ctg>Ttg p.L29L XPR1_ENST00000367589.3_Silent_p.L29L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 29 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CAAGGATATGCTGTATTCAGC 0.328000 5 173 0 0 0.001168 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202394748 202394748 + Missense_Mutation SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr1:202394748C>T ENST00000406302.3 + 4 749 c.596C>T c.(595-597)gCc>gTc p.A199V PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 199 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity p.A199V(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTGCAGGATGCCCGCCAGTGG 0.522000 5 316 0 0 0.000602 0 0 SCIMP 388325 broad.mit.edu 37 17 5126666 5126666 + Missense_Mutation SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr17:5126666A>G ENST00000574081.1 - 2 211 c.107T>C c.(106-108)cTc>cCc p.L36P RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P NM_001271842.1|NM_207103.3 NP_001258771.1|NP_996986.1 Q6UWF3 CQ087_HUMAN SLP adaptor and CSK interacting membrane protein 36 integral to membrane GTACAGGATGAGGCCCAGACC 0.512000 5 381 0 0 0.001984 0 0 MBTPS1 8720 broad.mit.edu 37 16 84118642 84118642 + Nonsense_Mutation SNP G G C TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr16:84118642G>C ENST00000343411.3 - 10 1727 c.1232C>G c.(1231-1233)tCa>tGa p.S411* MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 411 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity p.S411*(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 ACTGGTCCCTGAGAGGGCCCG 0.602000 OREG0023982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 64 0 0 0.004672 0 0 BICD2 23299 broad.mit.edu 37 9 95480999 95480999 + Missense_Mutation SNP G G T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr9:95480999G>T ENST00000356884.6 - 5 1995 c.1928C>A c.(1927-1929)gCa>gAa p.A643E BICD2_ENST00000375512.3_Missense_Mutation_p.A643E NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 643 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 GTCCACGGCTGCCTGCAGGTG 0.622000 6 162 0.00116845 0.00317149 0.001168 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 36 58 0 0 0.006999 0 0 FGG 2266 broad.mit.edu 37 4 155530931 155530931 + Missense_Mutation SNP C C T rs11551845 TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr4:155530931C>T ENST00000407946.1 - 6 566 c.541G>A c.(541-543)Gat>Aat p.D181N FGG_ENST00000336098.3_Intron|FGG_ENST00000405164.1_Missense_Mutation_p.D181N|FGG_ENST00000404648.3_Intron P02679 FIBG_HUMAN fibrinogen gamma chain 177 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GAAGGAGAATCGACTTTTACT 0.358000 16 53 0 0 0.003163 0 0 ARID1B 57492 broad.mit.edu 37 6 157525128 157525128 + Missense_Mutation SNP C C A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr6:157525128C>A ENST00000346085.5 + 19 5024 c.5023C>A c.(5023-5025)Cag>Aag p.Q1675K ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1662K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1662 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAATCTCTCCCAGGTAAGCCA 0.438000 6 395 0.00198382 0.00526952 0.001984 1 0 NBPF22P 0 broad.mit.edu 37 5 85592262 85592262 + RNA SNP C C A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr5:85592262C>A ENST00000590707.1 + 0 1561 NR_003719.2 TTGATGACTTCAAGCCACTAT 0.433000 5 5 0.000602214 0.00176511 0.000602 1 0 YEATS2 55689 broad.mit.edu 37 3 183518272 183518272 + Missense_Mutation SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr3:183518272C>T ENST00000305135.5 + 24 3539 c.3344C>T c.(3343-3345)aCa>aTa p.T1115I NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1115 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAACCAGAAACACCTGGACCG 0.473000 16 51 0 0 0.006122 0 0 ATMIN 23300 broad.mit.edu 37 16 81078068 81078068 + Missense_Mutation SNP A A T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr16:81078068A>T ENST00000566488.1 + 3 2460 c.1497A>T c.(1495-1497)gaA>gaT p.E499D ATMIN_ENST00000299575.4_Missense_Mutation_p.E655D|ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000539819.1_3'UTR O43313 ATMIN_HUMAN ATM interactor 655 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AAGAGAGTGAACTTAGCACCA 0.502000 6 106 0 0 0.003080 0 0 IFNE 338376 broad.mit.edu 37 9 21481080 21481080 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr9:21481080C>G ENST00000448696.3 - 1 1232 c.614G>C c.(613-615)aGa>aCa p.R205T MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 205 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 CCTCGGGCTTCTAAACTCTGT 0.413000 4 195 0 0 0.000248 0 0 KCNV2 169522 broad.mit.edu 37 9 2718675 2718675 + Silent SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr9:2718675C>T ENST00000382082.3 + 1 1174 c.936C>T c.(934-936)ttC>ttT p.F312F NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 312 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GCATGGGCTTCTTCACGCTCG 0.687000 5 64 0 0 0.001168 0 0 PTPRO 5800 broad.mit.edu 37 12 15713197 15713197 + Missense_Mutation SNP T T C rs150693746 byFrequency TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr12:15713197T>C ENST00000281171.4 + 17 3028 c.2698T>C c.(2698-2700)Tat>Cat p.Y900H PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000348962.2_Intron NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 900 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TTTGGCATTTTATATTAATCC 0.313000 3 120 0 0 0.000248 0 0 PRSS12 8492 broad.mit.edu 37 4 119229634 119229634 + Missense_Mutation SNP T T C TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr4:119229634T>C ENST00000296498.3 - 8 1870 c.1588A>G c.(1588-1590)Act>Gct p.T530A NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 530 SRCR 4. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 TCCTTATCAGTCCATCCATCA 0.408000 3 124 0 0 0.004672 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160774 12160774 + Missense_Mutation SNP G G A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr10:12160774G>A ENST00000263035.4 + 15 2491 c.2429G>A c.(2428-2430)gGc>gAc p.G810D NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 810 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.G810D(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTCTGCTCCGGCAAACATTTC 0.483000 5 278 0 0 0.000602 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 4 112 0 0 0.000248 0 0 CCDC129 223075 broad.mit.edu 37 7 31682443 31682443 + Missense_Mutation SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr7:31682443A>G ENST00000319386.3 + 11 2008 c.1015A>G c.(1015-1017)Agc>Ggc p.S339G CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G|CCDC129_ENST00000407970.3_Missense_Mutation_p.S487G Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 487 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GTCTTTTTCAAGCCAAGAAGC 0.512000 3 162 0 0 0.004672 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 4 13 0 0 0.000248 0 0 TPM3 7170 broad.mit.edu 37 1 154145568 154145568 + Missense_Mutation SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr1:154145568A>G ENST00000368533.3 - 3 428 c.376T>C c.(376-378)Tat>Cat p.Y126H TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000368530.2_Missense_Mutation_p.Y163H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H NM_001043352.1|NM_001278188.1|NM_153649.3 NP_001036817.1|NP_001265117.1|NP_705935.1 P06753 TPM3_HUMAN tropomyosin 3 162 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) ACCTCTTCATACTTCCTATCT 0.428000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 47 89 0 0 0.003610 0 0 ATMIN 23300 broad.mit.edu 37 16 81078069 81078069 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr16:81078069C>G ENST00000566488.1 + 3 2461 c.1498C>G c.(1498-1500)Ctt>Gtt p.L500V ATMIN_ENST00000299575.4_Missense_Mutation_p.L656V|ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000539819.1_3'UTR O43313 ATMIN_HUMAN ATM interactor 656 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AGAGAGTGAACTTAGCACCAT 0.502000 6 110 0 0 0.003080 0 0 SCN10A 6336 broad.mit.edu 37 3 38755465 38755465 + Missense_Mutation SNP C C G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr3:38755465C>G ENST00000449082.2 - 21 3787 c.3788G>C c.(3787-3789)cGa>cCa p.R1263P NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1263 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCTTCAAATCGAGAAAGAGC 0.537000 8 86 0 0 0.003080 0 0 XPR1 9213 broad.mit.edu 37 1 180651511 180651511 + Silent SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr1:180651511C>T ENST00000367590.4 + 2 283 c.85C>T c.(85-87)Ctg>Ttg p.L29L XPR1_ENST00000367589.3_Silent_p.L29L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 29 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CAAGGATATGCTGTATTCAGC 0.328000 5 173 0 0 0.001168 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202394748 202394748 + Missense_Mutation SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr1:202394748C>T ENST00000406302.3 + 4 749 c.596C>T c.(595-597)gCc>gTc p.A199V PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 199 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity p.A199V(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTGCAGGATGCCCGCCAGTGG 0.522000 5 316 0 0 0.000602 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 103 0 0 0.000602 0 0 BRICD5 283870 broad.mit.edu 37 16 2260148 2260148 + Silent SNP C C T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr16:2260148C>T ENST00000328540.3 - 3 1431 c.315G>A c.(313-315)gcG>gcA p.A105A BRICD5_ENST00000566018.1_Silent_p.A105A|BRICD5_ENST00000562360.1_Silent_p.A105A NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGAACAGCACCGCCCAGCTGT 0.711000 7 9 0 0 0.001984 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 70 0 0 0.001168 0 0 SCIMP 388325 broad.mit.edu 37 17 5126666 5126666 + Missense_Mutation SNP A A G TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr17:5126666A>G ENST00000574081.1 - 2 211 c.107T>C c.(106-108)cTc>cCc p.L36P RP11-333E1.1_ENST00000573772.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P NM_001271842.1|NM_207103.3 NP_001258771.1|NP_996986.1 Q6UWF3 CQ087_HUMAN SLP adaptor and CSK interacting membrane protein 36 integral to membrane GTACAGGATGAGGCCCAGACC 0.512000 5 381 0 0 0.001984 0 0 MBTPS1 8720 broad.mit.edu 37 16 84118642 84118642 + Nonsense_Mutation SNP G G C TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr16:84118642G>C ENST00000343411.3 - 10 1727 c.1232C>G c.(1231-1233)tCa>tGa p.S411* MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 411 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity p.S411*(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 ACTGGTCCCTGAGAGGGCCCG 0.602000 OREG0023982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 64 0 0 0.004672 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 83 0 0 0.001984 0 0 BICD2 23299 broad.mit.edu 37 9 95480999 95480999 + Missense_Mutation SNP G G T TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr9:95480999G>T ENST00000356884.6 - 5 1995 c.1928C>A c.(1927-1929)gCa>gAa p.A643E BICD2_ENST00000375512.3_Missense_Mutation_p.A643E NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 643 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 GTCCACGGCTGCCTGCAGGTG 0.622000 6 162 0.00116845 0.0032038 0.001168 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 36 58 0 0 0.006999 0 0 FGG 2266 broad.mit.edu 37 4 155530931 155530931 + Missense_Mutation SNP C C T rs11551845 TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr4:155530931C>T ENST00000407946.1 - 6 566 c.541G>A c.(541-543)Gat>Aat p.D181N FGG_ENST00000405164.1_Missense_Mutation_p.D181N|FGG_ENST00000404648.3_Intron|FGG_ENST00000336098.3_Intron P02679 FIBG_HUMAN fibrinogen gamma chain 177 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GAAGGAGAATCGACTTTTACT 0.358000 16 53 0 0 0.003163 0 0 SNX27 81609 broad.mit.edu 37 1 151584734 151584735 + In_Frame_Ins INS - - GGC TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr1:151584734_151584735insGGC ENST00000368843.3 + 1 177_178 c.57_58insGGC c.(55-60)gggcgg>ggGGCgcgg p.19_20GR>GAR SNX27_ENST00000458013.2_In_Frame_Ins_p.19_20GR>GAR|RP11-404E16.1_ENST00000504583.2_RNA NM_030918.5 NP_112180.4 Q96L92 SNX27_HUMAN sorting nexin family member 27 19 cell communication|protein transport|signal transduction cytosol|early endosome phosphatidylinositol binding|protein binding central_nervous_system(1)|large_intestine(2)|ovary(2) 5 Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGAAcggaggtggcggcggcgg 0.738 7 2 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 7074d548-f3d0-40b8-be2b-5140357ab71b g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 3 6 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 4 5 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr15:28518115delC ENST00000261609.7 - 8 944 c.836delG c.(835-837)gafs p.G279fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G279V(1)|p.G279fs*25(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 8 68 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-BJ-A28R-01A-11D-A16O-08 TCGA-BJ-A28R-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx e121c821-97e4-4964-bdf9-57a730b64668 62fac233-a2d6-42c1-9d04-f6f6a0ce274b g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 3 5 --- --- --- ---