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 PRDM8 56978 broad.mit.edu 37 4 81123252 81123252 + Missense_Mutation SNP G G C TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr4:81123252G>C ENST00000339711.4 + 10 1867 c.636G>C c.(634-636)caG>caC p.Q212H PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 212 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gcaaagaccagcagcagcagc 0.652000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 59 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52927028 52927028 + Missense_Mutation SNP G G A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr4:52927028G>A ENST00000295213.4 + 3 648 c.274G>A c.(274-276)Gga>Aga p.G92R SPATA18_ENST00000419395.2_Missense_Mutation_p.G92R|SPATA18_ENST00000506829.1_Intron NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 92 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TGCTTCCCTGGGAAAATCTGT 0.468000 3 56 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16953672 16953672 + RNA SNP C C T rs3738597 by1000genomes TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr1:16953672C>T ENST00000412962.1 - 0 589 TCGGTCTTCTCGGCCTGCAGC 0.652000 9 46 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37536550 37536550 + Missense_Mutation SNP C C T TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr20:37536550C>T ENST00000299824.1 + 9 1189 c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R292W NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 334 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) ATCCTTGAGCCGGAGGACCTC 0.607000 4 47 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150647430 150647430 + Missense_Mutation SNP G G C TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr7:150647430G>C ENST00000392968.2 - 7 3056 c.1936C>G c.(1936-1938)Ccc>Gcc p.P646A KCNH2_ENST00000430723.3_Missense_Mutation_p.P742A|KCNH2_ENST00000330883.4_Missense_Mutation_p.P402A|KCNH2_ENST00000262186.5_Missense_Mutation_p.P742A Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 742 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCTCGGAAGGGTTTGCAGTGC 0.652000 4 87 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30685544 30685544 + Missense_Mutation SNP C C T TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr17:30685544C>T ENST00000394670.4 + 3 360 c.191C>T c.(190-192)gCc>gTc p.A64V ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64V|ZNF207_ENST00000577908.1_Missense_Mutation_p.A64V|ZNF207_ENST00000321233.6_Missense_Mutation_p.A64V|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67V NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 64 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A64G(1) breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) ACAATAGATGCCGTACCAAAT 0.323000 4 76 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54042040 54042040 + Missense_Mutation SNP C C T TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr10:54042040C>T ENST00000373980.4 + 14 2090 c.1673C>T c.(1672-1674)tCa>tTa p.S558L PRKG1_ENST00000401604.2_Missense_Mutation_p.S543L|PRKG1_ENST00000373985.1_Missense_Mutation_p.S531L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S261L|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 543 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GACTACTGGTCACTGGGAATC 0.453000 4 68 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070915 141070915 + RNA SNP C C T TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr9:141070915C>T ENST00000503395.1 + 0 1690 p.T178T(1) TGTCAGACACCGTGGTGGAGC 0.522000 3 62 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32813387 32813387 + Missense_Mutation SNP A A G TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr6:32813387A>G ENST00000354258.4 - 11 2557 c.2396T>C c.(2395-2397)aTg>aCg p.M799T XXbac-BPG246D15.8_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.M538T NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 799 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 AGCCTGCACCATGGCCCAGTA 0.582000 3 37 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 95 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1425747 1425747 + Missense_Mutation SNP G G A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr1:1425747G>A ENST00000308647.7 + 14 1564 c.1448G>A c.(1447-1449)cGc>cAc p.R483H NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 483 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GAGCGGGAGCGCCTGGTGAGA 0.592000 3 55 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170367317 170367317 + Missense_Mutation SNP G G C TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr2:170367317G>C ENST00000284669.1 + 1 1106 c.1029G>C c.(1027-1029)caG>caC p.Q343H BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TTGTTACCCAGCAAAATCAGA 0.423000 3 69 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 10 54 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765424 50765424 + Nonsense_Mutation SNP C C A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr2:50765424C>A ENST00000404971.1 - 11 3569 c.2230G>T c.(2230-2232)Gga>Tga p.G744* NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G704* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 704 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TAGCCTGTTCCGGAACAATCA 0.463000 4 176 2.56e-06 2.98667e-06 1 1 0 BBS4 585 broad.mit.edu 37 15 73004613 73004613 + Missense_Mutation SNP C C A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr15:73004613C>A ENST00000268057.4 + 4 226 c.185C>A c.(184-186)aCt>aAt p.T62N BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.T50N|BBS4_ENST00000395205.2_Missense_Mutation_p.T70N|BBS4_ENST00000542334.1_5'UTR NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 62 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 CTTCAAGAGACTCAGGGATTG 0.378000 Bardet-Biedl syndrome 3 54 0.004672 0.00511 1 1 0 IGKV1D-16 0 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr2:90139477G>A ENST00000492446.1 + 0 275 GTCCCATCAAGGTTCAGCGGC 0.483000 4 186 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17412031 17412031 + Missense_Mutation SNP G G A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr19:17412031G>A ENST00000247706.3 - 2 634 c.395C>T c.(394-396)gCc>gTc p.A132V MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 132 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 gctgccgGGGGCCAAGCGGCC 0.726000 3 42 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651056 146651056 + RNA SNP C C G TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr1:146651056C>G ENST00000607149.1 + 0 350 CCATATACTTCTCTCCAGCCA 0.418000 5 77 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181745336 181745336 + Missense_Mutation SNP G G A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr1:181745336G>A ENST00000526775.1 + 37 5347 c.5182G>A c.(5182-5184)Gtc>Atc p.V1728I CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1698I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1747I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1747I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1728I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1679I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1354I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1747 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTTTGTCCGCGTCTGGGCAGA 0.612000 5 156 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078822 170078822 + Silent SNP C C A TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr3:170078822C>A ENST00000458537.3 + 1 1412 c.703C>A c.(703-705)Cgg>Agg p.R235R SKIL_ENST00000259119.4_Silent_p.R235R|SKIL_ENST00000426052.2_Silent_p.R215R|SKIL_ENST00000413427.2_Silent_p.R235R NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 235 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGCTTTATTGCGGCCACGAAC 0.433000 4 145 0.00909568 0.0093632 1 1 0 CTC-228N24.1 0 broad.mit.edu 37 5 127122030 127122030 + RNA DEL A A - TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr5:127122030delA ENST00000514853.2 + 0 278 TCTGTGACAGAAAAAAAAAAG 0.388 7 70 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26428450 26428451 + RNA INS - - A rs139821417 TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr6:26428450_26428451insA ENST00000466808.2 + 0 1304 tgtgtctaattaaaaaaaaaaa 0.450 3 5 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- --- RP11-101P17.9 0 broad.mit.edu 37 13 21894829 21894831 + RNA DEL TGG TGG - TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr13:21894829_21894831delTGG ENST00000434601.2 - 0 473 NR_103840.1 CAGAAGGGGATGGTGGAGACTGA 0.591 6 9 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 5 3 --- --- --- --- SNX29P2 0 broad.mit.edu 37 16 29372348 29372348 + RNA DEL T T - TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr16:29372348delT ENST00000398878.3 + 0 1186 SNX29P2_ENST00000507381.1_RNA TGGGAGGttgttttttttttt 0.478 7 9 --- --- --- --- GALR2 8811 broad.mit.edu 37 17 74073448 74073457 + Frame_Shift_Del DEL GTCCTGGCCC GTCCTGGCCC - rs67693166 TCGA-EJ-A8FP-01A-21D-A364-08 TCGA-EJ-A8FP-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac97df1b-05e5-4a00-a8b6-62d758397f3b 2f1be801-cd94-47b5-90b7-e2aea915e66b g.chr17:74073448_74073457delGTCCTGGCCC ENST00000329003.3 + 2 1190_1199 c.1100_1109delGTCCTGGCCC c.(1099-1110)tgfs p.CPGP367fs NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 367 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG 0.657 4 7 --- --- --- ---