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 CSMD1 64478 broad.mit.edu 37 8 3165842 3165842 + Nonsense_Mutation SNP G G T TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr8:3165842G>T ENST00000520002.1 - 25 4373 c.3818C>A c.(3817-3819)tCg>tAg p.S1273* CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S1273*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S1273*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S1273*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S1272*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S1272*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S1272* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1273 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCTATGCACGAAGGTAGTGG 0.507000 3 33 0.115264 0.119106 1 1 0 FLG 2312 broad.mit.edu 37 1 152284472 152284472 + Missense_Mutation SNP C C T TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:152284472C>T ENST00000368799.1 - 3 2925 c.2890G>A c.(2890-2892)Ggg>Agg p.G964R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 964 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGCAGACCCAGACCACCTC 0.582000 Ichthyosis 19 458 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183908909 183908909 + Splice_Site SNP A A T TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr3:183908909A>T ENST00000429586.2 + 16 1621 c.e16-1 EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TACCTCCTGCAGGTTCCCTGA 0.547000 6 121 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284148 159284148 + Missense_Mutation SNP T T G TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:159284148T>G ENST00000332217.5 - 1 301 c.302A>C c.(301-303)cAg>cCg p.Q101P NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GAAGAAGAGCTGAGTGGCACA 0.502000 5 92 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 16 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160098487 160098487 + Missense_Mutation SNP C C A TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:160098487C>A ENST00000361216.3 + 9 1152 c.1063C>A c.(1063-1065)Ctg>Atg p.L355M ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.L355M NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 355 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GAAGAACTGCCTGGTGAAGAA 0.592000 7 137 0.00621372 0.00713427 1 1 0 ELOVL3 83401 broad.mit.edu 37 10 103988882 103988882 + Missense_Mutation SNP G G A TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr10:103988882G>A ENST00000370005.3 + 4 907 c.686G>A c.(685-687)tGc>tAc p.C229Y NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 229 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) GATCAGGGATGCCACACCACG 0.502000 5 72 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 4 39 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228470829 228470829 + Missense_Mutation SNP A A G TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:228470829A>G ENST00000570156.2 + 37 9942 c.9868A>G c.(9868-9870)Aag>Gag p.K3290E OBSCN_ENST00000284548.11_Missense_Mutation_p.K2861E|OBSCN_ENST00000359599.6_Missense_Mutation_p.K1708E|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.K2861E|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2324 Ig-like 33. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCACTGGCTGAAGGACAGGAA 0.662000 2 8 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376538 138376538 + Missense_Mutation SNP G G A rs142346595 byFrequency TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr9:138376538G>A ENST00000356818.2 + 4 731 c.182G>A c.(181-183)cGg>cAg p.R61Q PPP1R26_ENST00000605660.1_Missense_Mutation_p.R61Q|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R61Q|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R61Q|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R61Q NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 61 nucleolus protein binding GGGGCTGCTCGGGGCACCAGC 0.711000 5 91 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324593 79324593 + Missense_Mutation SNP C C A TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr9:79324593C>A ENST00000428286.1 - 8 2720 c.1520G>T c.(1519-1521)gGc>gTc p.G507V PRUNE2_ENST00000376718.3_Missense_Mutation_p.G866V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 866 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GTTTTTCTTGCCCCAGATTTC 0.443000 5 63 0.014758 0.0157758 1 1 0 TTC16 158248 broad.mit.edu 37 9 130487173 130487173 + Missense_Mutation SNP G G A TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr9:130487173G>A ENST00000373289.3 + 9 1336 c.1256G>A c.(1255-1257)cGc>cAc p.R419H TTC16_ENST00000489226.1_Intron|TTC16_ENST00000393748.4_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 419 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GAGCAGAGGCGCAAGTGCGTG 0.706000 3 6 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445766 150445766 + Missense_Mutation SNP C C T TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:150445766C>T ENST00000401000.4 + 10 4329 c.4264C>T c.(4264-4266)Ccg>Tcg p.P1422S RPRD2_ENST00000369068.4_Missense_Mutation_p.P1448S|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1448 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TAGGGGCCCTCCGTTCTTTGC 0.512000 6 108 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131895009 131895009 + Missense_Mutation SNP G G C TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr5:131895009G>C ENST00000265335.6 + 2 550 c.163G>C c.(163-165)Gga>Cga p.G55R RAD50_ENST00000378823.3_5'UTR Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 55 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TATTTGTACTGGAGATTTCCC 0.279000 Homologous recombination 5 100 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72410538 72410538 + Missense_Mutation SNP G G A TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr11:72410538G>A ENST00000359373.5 - 17 3213 c.2362C>T c.(2362-2364)Cgg>Tgg p.R788W ARAP1_ENST00000393605.3_Missense_Mutation_p.R548W|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.R788W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R482W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R788W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R543W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R543W Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 788 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GTCACTGCCCGCTCATTCTCA 0.617000 3 22 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165175207 165175207 + Silent SNP G G T TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:165175207G>T ENST00000342310.3 - 8 1264 c.882C>A c.(880-882)ccC>ccA p.P294P LMX1A_ENST00000294816.2_Silent_p.P294P|LMX1A_ENST00000367893.4_Silent_p.P294P|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 294 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) GCTGTGGGGTGGGCAGAGCCG 0.582000 5 93 1.23904e-05 1.53641e-05 1 1 0 GLB1 2720 broad.mit.edu 37 3 33063137 33063137 + Missense_Mutation SNP A A C TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr3:33063137A>C ENST00000307363.5 - 12 1298 c.1154T>G c.(1153-1155)gTg>gGg p.V385G GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.V433G|GLB1_ENST00000399402.3_Missense_Mutation_p.V355G|GLB1_ENST00000307377.8_Missense_Mutation_p.V254G NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 385 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) AGCTGCTCCCACTGTCTTTAA 0.453000 3 32 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324594 79324594 + Missense_Mutation SNP C C A TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr9:79324594C>A ENST00000428286.1 - 8 2719 c.1519G>T c.(1519-1521)Ggc>Tgc p.G507C PRUNE2_ENST00000376718.3_Missense_Mutation_p.G866C Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 866 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTTTTCTTGCCCCAGATTTCT 0.443000 5 62 0.014758 0.0157758 1 1 0 ANKHD1 54882 broad.mit.edu 37 5 139918961 139918961 + Missense_Mutation SNP G G C rs145256820 TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr5:139918961G>C ENST00000360839.2 + 34 7741 c.7587G>C c.(7585-7587)tgG>tgC p.W2529C ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000544120.1_Missense_Mutation_p.W853C|ANKHD1_ENST00000297183.6_Intron NM_017747.2 NP_060217.1 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCACGTGGGCACCTCATA 0.363000 7 181 0 0 1 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 3 6 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-78-8648-01A-11D-2393-08 TCGA-78-8648-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9116cc35-e986-4e62-a029-8eab48a079e8 eac3d6f3-4ab3-4394-9771-8b3d102d13a9 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 227 --- --- --- ---