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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high PNLIP 5406 broad.mit.edu 37 10 118318720 118318721 + Frame_Shift_Ins INS - - A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 - A - - Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr10:118318720_118318721insA ENST00000369221.2 + 10 1013_1014 c.985_986insA c.(985-987)gatfs p.D329fs NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 43 Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083) TCACTATGCTGATAGATATCCT 0.401000 0 SO:0001589 frameshift_variant ENST00000369221.2 0 1 hg19 CCDS7594.1 TCGA-HV-AA8X-01A-11D-A397-08 PNLIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050524.1 1 0 0 104 383 0 66 0 1 0 160 0 66 2 0 0 0 0 1 1.000000 105 378 0 65 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 2.037845 0 0.630000 1.930000 0.628831 0.670000 5.600000e-01 0.790000 0.680000 0.678694 0.670000 0 0.610000 0.740000 INPP5F 22876 broad.mit.edu 37 10 121551520 121551521 + Frame_Shift_Ins INS - - GAGG TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr10:121551520_121551521insGAGG ENST00000361976.2 + 5 750_751 c.584_585insGAGG c.(583-588)gagaggfs p.-196fs INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs NM_014937.3 NP_055752.1 Q01968 OCRL_HUMAN inositol polyphosphate-5-phosphatase F 42 Lung NSC(174;0.109)|all_lung(145;0.142) AGCACTGGGGAGAGGGACGGTC 0.500000 0 SO:0001589 frameshift_variant ENST00000361976.2 0 1 hg19 CCDS7616.1 TCGA-HV-AA8X-01A-11D-A397-08 INPP5F-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050679.1 1 0 0 105 566 0 117 0 3.663019e-01 0 8 0 117 2 0 0 0 0 1 1.000000 110 562 0 115 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 2.037845 0 0.630000 1.930000 0.628831 0.490000 4.000000e-01 0.580000 0.500000 0.498000 0.490000 0 0.440000 0.540000 RPRD2 23248 broad.mit.edu 37 1 150443776 150443776 + Frame_Shift_Del DEL T T - TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 T - T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr1:150443776delT ENST00000369068.4 + 11 2356 c.2352delT c.(2350-2352)aatfs p.N784fs RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs NM_015203.3 NP_056018.2 Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 37 AGCTCTCCAATTCTGTATCTA 0.507000 0 SO:0001589 frameshift_variant ENST00000369068.4 1 1 hg19 CCDS44216.1 TCGA-HV-AA8X-01A-11D-A397-08 RPRD2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000035844.1 1 0 0 89 199 0 32 1 1 18 44 0 32 2 0 0 0 0 1 1.000000 91 199 0 33 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.653221 1 0.630000 1.930000 0.713833 0.990000 9.900000e-01 1.000000 1.000000 0.999826 0.990000 1 0.990000 1.000000 PRSS1 5644 broad.mit.edu 37 7 142458419 142458421 + In_Frame_Del DEL TGA TGA - TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 TGA - TGA TGA Valid Somatic Phase_I WXS targeted Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr7:142458419_142458421delTGA ENST00000311737.7 + 2 60_62 c.54_56delTGA c.(52-57)tttgat>ttt p.D22del PRSS1_ENST00000486171.1_In_Frame_Del_p.D22del NM_002769.4 NP_002760.1 P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) Aprotinin(DB06692) CTGCCCCCTTTGATGATGATGAC 0.527000 0 GRCh37 CM035652 PRSS1 M SO:0001651 inframe_deletion ENST00000311737.7 1 0 hg19 CCDS5872.1 TCGA-HV-AA8X-01A-11D-A397-08 PRSS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352538.2 1 0 0 122 1075 0 176 0 1 0 540 0 176 2 1 9.999971e-01 30 123 0 87 2 1 0.046923 257 857 20 181 139 0 0 0 0 0 0 -20.000000 1 0 0 0 1 1 2 3 2.083494 0 0.630000 1.930000 0.632316 0.320000 2.600000e-01 0.390000 0.320000 0.334147 0.320000 0 0.290000 0.360000 KDM6A 7403 broad.mit.edu 37 X 44969494 44969503 + Splice_Site DEL AGTAAGTCAA AGTAAGTCAA - TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 AGTAAGTCAA - AGTAAGTCAA AGTAAGTCAA Valid Somatic Phase_I WXS targeted Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chrX:44969494_44969503delAGTAAGTCAA ENST00000377967.4 + 28 4217 c.4176delAGTAAGTCAA c.(4174-4176)tta>tt p.L1392fs KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs|KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs|KDM6A_ENST00000479423.1_3'UTR NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A p.0?(6) 170 AATTTACATTAGTAAGTCAAATCAACATGT 0.376000 D, N, F, S renal, oesophageal SCC, MM Colon(129;1273 1667 15230 27352 52914) Rec yes X Xp11.2 7403 lysine (K)-specific demethylase 6A, UTX E, L 6 Whole gene deletion(6) SO:0001630 splice_region_variant ENST00000377967.4 1 1 hg19 CCDS14265.1 TCGA-HV-AA8X-01A-11D-A397-08 KDM6A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056324.1 0 0 0 36 200 0 43 0 9.958940e-01 0 50 0 43 2 1 1 85 329 0 288 2 1 0.999218 61 225 1 44 20 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 0.630000 1.930000 0.630000 0.480000 3.400000e-01 0.630000 0.480000 0.492298 0.480000 0 0.410000 0.560000 LZTS2 84445 broad.mit.edu 37 10 102765276 102765276 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr10:102765276C>T ENST00000370220.1 + 3 4193 c.1130C>T c.(1129-1131)gCg>gTg p.A377V LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V leucine zipper, putative tumor suppressor 2 22 GAGGACTGTGCGGCCCAGGCA 0.657000 Esophageal Squamous(8;38 437 13604 19902 37640) 0 SO:0001583 missense ENST00000370220.1 0 1 hg19 CCDS7507.1 . . . . . . . . . . C 12.450000 1.941222 0.342830 2.27E-4 0.0 ENSG00000107816 ENST00000370223;ENST00000315797;ENST00000370220 T;T 0.48836 0.8;0.8 5.090000 1.640000 0.238740 . 0.379079 0.28284 N 0.015912 T 0.33644 0.0870 L 0.31420 0.93 0.093100 N 0.999999 B 0.12630 0.006 B 0.10450 0.005 T 0.29119 -1.0022 10 0.48119 T 0.1 4.0816 10.985500 0.475200 0.0:0.7431:0.0:0.2569 . 377 Q9BRK4 LZTS2_HUMAN V 377 ENSP00000359243:A377V;ENSP00000359240:A377V ENSP00000314437:A377V A + 2 0 LZTS2 102755266 0 0.058580 0 0.037020 3.640000e-01 0.296430 0.846000 0.276820 0.519000 0.284060 0.561000 0.740990 GCG TCGA-HV-AA8X-01A-11D-A397-08 LZTS2-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049872.1 0 0 0 5 224 0 49 0 8.626110e-01 0 164 0 49 2 0 0 0 0 0 2 1 0.936784 5 223 0 49 2 0 0 0 0 0 2 -3.474056 1 1 120942 4 31 1 0 1 1 2.037845 0 0.630000 1.930000 0.628831 0.070000 2.000000e-02 0.150000 0.070000 0.081989 0.070000 0 0.040000 0.110000 MYO3A 53904 broad.mit.edu 37 10 26432452 26432452 + Missense_Mutation SNP C C A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr10:26432452C>A ENST00000265944.5 + 21 2504 c.2338C>A c.(2338-2340)Ctg>Atg p.L780M MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 146 AGATATGTTTCTGCAAAAGCC 0.383000 0 SO:0001583 missense ENST00000265944.5 1 1 hg19 CCDS7148.1 . . . . . . . . . . C 21.500000 4.159247 0.782260 . . ENSG00000095777 ENST00000265944 D 0.87179 -2.22 6.020000 6.020000 0.975740 Myosin head, motor domain (3); 0.000000 0.85682 D 0.000000 D 0.91968 0.7456 M 0.67700 2.07 0.807220 D 1.000000 D 0.89917 1.0 D 0.91635 0.999 D 0.91867 0.5504 10 0.72032 D 0.01 . 11.775000 0.519810 0.0:0.8651:0.0:0.1349 . 780 Q8NEV4 MYO3A_HUMAN M 780 ENSP00000265944:L780M ENSP00000265944:L780M L + 1 2 MYO3A 26472458 1 0.714170 1 0.803570 9.890000e-01 0.773840 2.744000 0.474500 2.857000 0.981240 0.650000 0.862430 CTG TCGA-HV-AA8X-01A-11D-A397-08 MYO3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047259.1 1 0 1 90 238 0 63 0 3.062954e-01 0 4 0 63 2 0 0 0 0 0 2 1 1.000000 89 236 0 63 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.041878 0 0.630000 1.930000 0.630000 0.860000 7.100000e-01 1.000000 1.000000 0.871853 0.860000 1 0.790000 0.950000 RBM17 84991 broad.mit.edu 37 10 6157416 6157416 + Splice_Site SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr10:6157416C>T ENST00000446108.1 + 12 1747 c.1103C>T c.(1102-1104)gCg>gTg p.A368V RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Splice_Site_p.A368V NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 19 TGCCTTTCAGCGGTTGTTGAC 0.353000 0 SO:0001630 splice_region_variant ENST00000446108.1 1 0 hg19 CCDS7077.1 . . . . . . . . . . C 25.600000 4.653982 0.880560 . . ENSG00000134453 ENST00000379888;ENST00000446108 . . . 4.930000 4.930000 0.648220 RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1); 0.000000 0.85682 D 0.000000 D 0.87617 0.6222 H 0.95645 3.7 0.807220 D 1.000000 D 0.89917 1.0 D 0.87578 0.998 D 0.91544 0.5252 8 . . . . 18.519000 0.909440 0.0:1.0:0.0:0.0 . 368 Q96I25 SPF45_HUMAN V 368 . . A + 2 0 RBM17 6197422 1 0.714170 1 0.803570 8.450000e-01 0.480190 7.091000 0.769230 2.424000 0.821940 0.655000 0.942530 GCG TCGA-HV-AA8X-01A-11D-A397-08 RBM17-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046635.1 1 0 0 11 289 0 83 1 9.938181e-01 14 217 0 83 2 0 0 0 0 0 2 1 0.998324 11 286 0 82 2 0 0 0 0 0 2 -3.264751 1 1 0 0 1 0 1 1 1.380522 1 0.630000 1.930000 0.459854 0.070000 3.000000e-02 0.140000 0.080000 0.086063 0.070000 0 0.050000 0.110000 ROBO3 64221 broad.mit.edu 37 11 124749808 124749808 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr11:124749808G>A ENST00000397801.1 + 26 4114 c.3922G>A c.(3922-3924)Gtg>Atg p.V1308M ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) GGTCCAGGCCGTGCCCCTGGC 0.692000 0 SO:0001583 missense ENST00000397801.1 0 1 hg19 CCDS44755.1 . . . . . . . . . . G 5.514000 0.279841 0.104580 . . ENSG00000154134 ENST00000397801;ENST00000538940;ENST00000543966 T;T;T 0.64438 -0.1;-0.09;0.88 5.280000 -0.160000 0.133750 . 1.155830 0.06713 N 0.773491 T 0.45276 0.1334 N 0.22421 0.69 0.093100 N 1.000000 B 0.10296 0.003 B 0.06405 0.002 T 0.23119 -1.0197 10 0.29301 T 0.29 . 7.307100 0.264530 0.2549:0.0:0.6225:0.1226 . 1308 Q96MS0 ROBO3_HUMAN M 1308;1286;71 ENSP00000380903:V1308M;ENSP00000441797:V1286M;ENSP00000438799:V71M ENSP00000380903:V1308M V + 1 0 ROBO3 124255018 1.000000e-03 0.127200 2.000000e-03 0.105220 2.100000e-02 0.103590 0.938000 0.289650 -0.348000 0.082860 -1.004000 0.024950 GTG TCGA-HV-AA8X-01A-11D-A397-08 ROBO3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387091.1 1 0 1 16 39 0 11 1 9.658442e-01 3 14 0 11 2 0 0 0 0 0 2 1 0.999968 16 37 0 11 2 0 0 0 0 0 2 -20.000000 1 1 120614 5 34 1 0 0 0 2.039546 0 0.630000 1.930000 0.630000 0.920000 5.800000e-01 1.000000 1.000000 0.887922 0.920000 1 0.740000 1.000000 LRP5 4041 broad.mit.edu 37 11 68216515 68216515 + Missense_Mutation SNP T T C TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr11:68216515T>C ENST00000294304.7 + 23 4931 c.4825T>C c.(4825-4827)Tcc>Ccc p.S1609P LRP5_ENST00000529481.1_3'UTR NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 63 GCCCCCTCCGTCCCCCTGCAC 0.582000 0 SO:0001583 missense ENST00000294304.7 0 1 hg19 CCDS8181.1 . . . . . . . . . . T 16.070000 3.019969 0.545760 . . ENSG00000162337 ENST00000294304 D 0.96830 -4.14 4.530000 4.530000 0.556030 . 0.000000 0.46145 U 0.000317 D 0.97791 0.9275 M 0.78637 2.42 0.807220 D 1.000000 D;D 0.76494 0.999;0.999 D;D 0.87578 0.998;0.998 D 0.98611 1.0663 10 0.87932 D 0 . 14.092200 0.649980 0.0:0.0:0.0:1.0 . 1609;1609 Q9UES7;O75197 .;LRP5_HUMAN P 1609 ENSP00000294304:S1609P ENSP00000294304:S1609P S + 1 0 LRP5 67973091 1 0.714170 9.320000e-01 0.372860 2.100000e-02 0.103590 7.395000 0.798760 1.919000 0.555810 0.454000 0.307480 TCC TCGA-HV-AA8X-01A-11D-A397-08 LRP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395088.1 0 0 0 4 190 0 40 0 9.771287e-01 0 356 0 40 2 0 0 0 0 0 2 1 0.885006 4 185 0 39 2 0 0 0 0 0 2 -2.425109 0 1 0 0 1 0 0 0 2.039546 0 0.630000 1.930000 0.630000 0.070000 1.000000e-02 0.160000 0.060000 0.080685 0.070000 0 0.040000 0.110000 GDPD4 220032 broad.mit.edu 37 11 76982196 76982196 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr11:76982196C>T ENST00000376217.2 - 6 629 c.379G>A c.(379-381)Gtg>Atg p.V127M GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.V127M Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 20 AAACATGCCACGTAGAAGGCC 0.483000 0 SO:0001583 missense ENST00000376217.2 1 1 hg19 . . . . . . . . . . C 2.897000 -0.228315 0.060220 0.0 1.16E-4 ENSG00000178795 ENST00000376217;ENST00000315938 T;T 0.16073 2.37;2.43 4.550000 -2.000000 0.074330 . 0.670270 0.15204 N 0.274867 T 0.07728 0.0194 L 0.29908 0.895 0.093100 N 1.000000 P 0.38167 0.621 B 0.26969 0.075 T 0.21109 -1.0255 10 0.39692 T 0.17 -0.5584 5.377600 0.161740 0.5872:0.1974:0.0:0.2154 . 127 Q6W3E5-2 . M 127 ENSP00000365390:V127M;ENSP00000320815:V127M ENSP00000320815:V127M V - 1 0 GDPD4 76659844 0 0.058580 0 0.037020 2.000000e-03 0.026280 -0.182000 0.097260 -0.554000 0.061500 -0.500000 0.045770 GTG TCGA-HV-AA8X-01A-11D-A397-08 GDPD4-002 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000382075.1 1 0 1 43 112 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 1.000000 43 111 0 26 2 0 0 0 0 0 2 -20.000000 1 1 121412 3 34 1 0 0 0 2.039546 0 0.630000 1.930000 0.630000 0.870000 6.600000e-01 1.000000 1.000000 0.876294 0.870000 1 0.760000 1.000000 KSR2 283455 broad.mit.edu 37 12 117977587 117977587 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr12:117977587G>A ENST00000339824.5 - 10 2351 c.1624C>T c.(1624-1626)Ccg>Tcg p.P542S KSR2_ENST00000302438.5_Missense_Mutation_p.P239S|KSR2_ENST00000425217.1_Missense_Mutation_p.P513S|KSR2_ENST00000545002.1_5'UTR Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAGAAGGCGGCGTGGCACTA 0.647000 0 SO:0001583 missense ENST00000339824.5 1 1 hg19 . . . . . . . . . . G 22.200000 4.260144 0.802460 . . ENSG00000171435 ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378 T;T;D 0.86297 -1.27;-1.26;-2.1 5.040000 5.040000 0.676660 . 0.000000 0.85682 D 0.000000 D 0.84611 0.5510 L 0.29908 0.895 0.807220 D 1.000000 D 0.59357 0.985 P 0.53102 0.718 T 0.80214 -0.1475 10 0.02654 T 1 . 18.569100 0.911280 0.0:0.0:1.0:0.0 . 542 Q6VAB6 KSR2_HUMAN S 513;542;239;214 ENSP00000389715:P513S;ENSP00000339952:P542S;ENSP00000305466:P239S ENSP00000305466:P239S P - 1 0 KSR2 116461970 1 0.714170 1 0.803570 9.210000e-01 0.553400 9.569000 0.981700 2.601000 0.879370 0.655000 0.942530 CCG TCGA-HV-AA8X-01A-11D-A397-08 KSR2-001 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000401987.2 1 0 1 64 85 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 1.000000 60 85 0 46 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 2 2 1.819576 1 0.630000 1.930000 0.630000 0.990000 9.900000e-01 1.000000 1.000000 0.999955 0.990000 1 0.990000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.400000 4.409094 0.833400 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.680000 5.680000 0.881260 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.807220 D 1.000000 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.371900 0.904090 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1 0.714170 1 0.803570 9.980000e-01 0.957120 7.743000 0.850200 2.668000 0.907890 0.563000 0.778840 GGT TCGA-HV-AA8X-01A-11D-A397-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 50 156 0 37 1 9.976111e-01 17 13 0 37 2 1 1 134 392 0 431 2 1 1.000000 50 154 0 37 2 1 1 2547 5486 11 8006 21 -20.000000 1 1 121404 2 44 1 2 2 4 2.580085 1 0.630000 1.930000 0.707417 0.990000 7.600000e-01 1.000000 1.000000 0.956221 0.990000 1 0.870000 1.000000 TUBA1B 10376 broad.mit.edu 37 12 49523505 49523505 + Splice_Site SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr12:49523505G>A ENST00000336023.5 - 2 98 c.4C>T c.(4-6)Cgt>Tgt p.R2C RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 12 ATGCACTCACGCTGCGGGAAG 0.468000 0 SO:0001630 splice_region_variant ENST00000336023.5 1 0 hg19 CCDS31792.1 . . . . . . . . . . g 16.250000 3.071607 0.556460 . . ENSG00000123416 ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367 T;T 0.71698 -0.59;-0.59 4.850000 4.850000 0.628380 Tubulin/FtsZ, GTPase domain (2); 0.000000 0.47455 U 0.000228 D 0.86543 0.5958 M 0.88570 2.965 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.89528 0.3783 10 0.87932 D 0 . 16.730900 0.854340 0.0:0.0:1.0:0.0 . 2 P68363 TBA1B_HUMAN C 2 ENSP00000336799:R2C;ENSP00000449325:R2C ENSP00000336799:R2C R - 1 0 TUBA1B 47809772 1 0.714170 1 0.803570 9.370000e-01 0.578000 9.776000 0.990010 2.235000 0.733130 0.655000 0.942530 CGT TCGA-HV-AA8X-01A-11D-A397-08 TUBA1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409005.1 1 0 1 65 86 0 42 1 1 207 122 0 42 2 0 0 0 0 0 2 1 1.000000 60 84 0 42 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 2 2 1.819576 1 0.630000 1.930000 0.630000 0.990000 9.900000e-01 1.000000 1.000000 0.999961 0.990000 1 0.990000 1.000000 NOP2 4839 broad.mit.edu 37 12 6672578 6672578 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr12:6672578G>A ENST00000322166.5 - 8 912 c.791C>T c.(790-792)tCt>tTt p.S264F NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000541778.1_Missense_Mutation_p.S260F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F NM_001258308.1|NM_006170.3 NP_001245237.1|NP_006161.2 P46087 NOP2_HUMAN NOP2 nucleolar protein 19 CAGGTATTCAGAACGAGACCG 0.542000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000322166.5 0 1 hg19 CCDS58203.1 . . . . . . . . . . G 16.030000 3.005824 0.542540 . . ENSG00000111641 ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944 T;T;T;T;T;T;T 0.48201 2.4;2.42;2.43;2.4;2.4;2.4;0.82 5.190000 5.190000 0.717260 . 1.209700 0.05601 N 0.576322 T 0.66247 0.2770 M 0.84082 2.675 0.205630 N 0.999886 P 0.41131 0.739 P 0.49276 0.605 T 0.56463 -0.7975 10 0.66056 D 0.02 -1.1433 11.969500 0.530550 0.0:0.0:0.7038:0.2962 . 260 P46087-2 . F 264;297;260;260;264;260;140 ENSP00000444437:S264F;ENSP00000371858:S297F;ENSP00000439422:S260F;ENSP00000382392:S260F;ENSP00000313272:S264F;ENSP00000443150:S260F;ENSP00000440754:S140F ENSP00000313272:S264F S - 2 0 NOP2 6542839 1.600000e-02 0.182210 3.500000e-02 0.180760 9.930000e-01 0.825480 1.893000 0.397580 2.436000 0.825000 0.561000 0.740990 TCT TCGA-HV-AA8X-01A-11D-A397-08 NOP2-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402614.1 1 0 1 24 33 0 16 1 9.999992e-01 36 7 0 16 2 0 0 0 0 0 2 1 1.000000 24 33 0 16 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 2 2 1.824452 1 0.630000 1.930000 0.630000 0.990000 9.600000e-01 1.000000 1.000000 0.997286 0.990000 1 0.990000 1.000000 OSBPL8 114882 broad.mit.edu 37 12 76779953 76779953 + Nonsense_Mutation SNP C C A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr12:76779953C>A ENST00000261183.3 - 14 2007 c.1528G>T c.(1528-1530)Gaa>Taa p.E510* OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468* NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 28 AATACCTGTTCAGCAATATAA 0.318000 0 SO:0001587 stop_gained ENST00000261183.3 0 1 hg19 CCDS31862.1 . . . . . . . . . . C 43.000000 9.950176 0.993030 . . ENSG00000091039 ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946 . . . 5.650000 5.650000 0.869990 . 0.094278 0.64402 D 0.000001 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.87932 D 0 -22.0275 19.724000 0.961540 0.0:1.0:0.0:0.0 . . . . X 468;510;495;468;510;510;485 . ENSP00000261183:E510X E - 1 0 OSBPL8 75304084 1 0.714170 1 0.803570 9.960000e-01 0.888480 6.092000 0.714140 2.654000 0.901740 0.557000 0.710580 GAA TCGA-HV-AA8X-01A-11D-A397-08 OSBPL8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000406357.1 1 0 1 59 84 0 32 1 8.526269e-01 4 3 0 32 2 0 0 0 1 0 0 2 1 1.000000 59 84 0 32 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 2 2 1.819576 1 0.630000 1.930000 0.630000 0.990000 9.900000e-01 1.000000 1.000000 0.999784 0.990000 1 0.990000 1.000000 OR4K17 390436 broad.mit.edu 37 14 20586444 20586444 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr14:20586444C>T ENST00000315543.4 + 1 879 c.879C>T c.(877-879)ttC>ttT p.F293F NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) TTTGGCCCTTCGGCAACCACT 0.418000 0 SO:0001819 synonymous_variant ENST00000315543.4 1 1 hg19 CCDS32030.1 TCGA-HV-AA8X-01A-11D-A397-08 OR4K17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410346.1 1 0 1 72 104 0 38 0 0 0 0 38 2 0 0 0 0 0 2 1 1.000000 72 104 0 37 2 0 0 0 0 0 2 -20.000000 1 1 121406 18 44 1 1 2 3 2.070656 0 0.630000 1.930000 0.632316 0.990000 9.900000e-01 1.000000 1.000000 0.999880 0.990000 1 0.990000 1.000000 NPAS3 64067 broad.mit.edu 37 14 34270091 34270091 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr14:34270091G>A ENST00000356141.4 + 12 2578 c.2578G>A c.(2578-2580)Ggc>Agc p.G860S NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000346562.2_Missense_Mutation_p.G828S Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) TAACAGCCCCGGCTTTGGCCT 0.652000 0 SO:0001583 missense ENST00000356141.4 0 1 hg19 CCDS53891.1 . . . . . . . . . . G 11.820000 1.751605 0.310460 . . ENSG00000151322 ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798 T;T;T;T;T;T 0.11169 3.07;2.9;2.96;2.96;2.93;2.8 5.020000 5.020000 0.671250 . 0.054609 0.64402 D 0.000001 T 0.08133 0.0203 L 0.27053 0.805 0.807220 D 1.000000 B;B;B;B 0.17667 0.023;0.013;0.023;0.023 B;B;B;B 0.15052 0.012;0.005;0.012;0.012 T 0.19192 -1.0313 10 0.37606 T 0.19 . 9.699800 0.401800 0.1303:0.0:0.8697:0.0 . 830;860;828;847 Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3 .;NPAS3_HUMAN;.;. S 834;865;828;830;860;847 ENSP00000448373:G834S;ENSP00000450392:G865S;ENSP00000319610:G828S;ENSP00000448916:G830S;ENSP00000348460:G860S;ENSP00000350446:G847S ENSP00000319610:G828S G + 1 0 NPAS3 33339842 1 0.714170 9.980000e-01 0.565050 9.630000e-01 0.636630 4.058000 0.574630 2.310000 0.778750 0.484000 0.476210 GGC TCGA-HV-AA8X-01A-11D-A397-08 NPAS3-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000276645.1 1 0 1 13 24 0 12 0 0 0 1 0 12 2 0 0 0 0 0 2 1 0.999836 13 24 0 12 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.055636 0 0.630000 1.930000 0.631162 0.990000 6.700000e-01 1.000000 1.000000 0.956200 0.990000 1 0.880000 1.000000 GPHN 10243 broad.mit.edu 37 14 67626189 67626189 + Missense_Mutation SNP G G T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr14:67626189G>T ENST00000315266.5 + 18 2916 c.1795G>T c.(1795-1797)Gtt>Ttt p.V599F GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F|GPHN_ENST00000478722.1_Missense_Mutation_p.V632F|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F NM_001024218.1 NP_001019389.1 Q9NQX3 GEPH_HUMAN gephyrin 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) TTTTGGCAGGGTTTTTATGAA 0.333000 T MLL AL Dom yes 14 14q24 10243 gephyrin (GPH) L 0 SO:0001583 missense ENST00000315266.5 0 1 hg19 CCDS32103.1 . . . . . . . . . . G 27.600000 4.845302 0.911970 . . ENSG00000171723 ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503 T;T;T;T;T 0.79454 -1.27;-1.27;-1.27;-1.27;-1.27 5.660000 5.660000 0.874060 Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4); 0.000000 0.85682 D 0.000000 D 0.93012 0.7776 H 0.98005 4.125 0.807220 D 1.000000 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.998;0.996;0.999;0.996 D 0.95232 0.8343 10 0.87932 D 0 -9.3676 18.507500 0.909020 0.0:0.0:1.0:0.0 . 568;645;599;632 F8W7D6;F5H039;Q9NQX3;Q9NQX3-2 .;.;GEPH_HUMAN;. F 599;632;645;568;124 ENSP00000312771:V599F;ENSP00000417901:V632F;ENSP00000438404:V645F;ENSP00000303019:V568F;ENSP00000452009:V124F ENSP00000303019:V568F V + 1 0 GPHN 66695942 1 0.714170 1 0.803570 9.960000e-01 0.888480 9.326000 0.963890 2.669000 0.908350 0.591000 0.815410 GTT TCGA-HV-AA8X-01A-11D-A397-08 GPHN-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000074299.2 0 0 0 5 464 0 105 1 4.720076e-02 2 24 0 105 2 0 0 0 0 0 2 1 0.937501 5 463 0 105 2 0 0 0 0 0 2 -2.877532 1 1 0 0 1 0 0 0 2.047579 0 0.630000 1.930000 0.630000 0.030000 0 0.080000 0.040000 0.039941 0.030000 0 0.010000 0.060000 C15orf41 84529 broad.mit.edu 37 15 36989551 36989551 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr15:36989551G>A ENST00000566621.1 + 8 754 c.504G>A c.(502-504)ctG>ctA p.L168L C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000567389.1_Silent_p.L70L NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) ATGAGGTCCTGCTGAGAGACT 0.423000 0 SO:0001819 synonymous_variant ENST00000566621.1 0 1 hg19 CCDS45215.1 TCGA-HV-AA8X-01A-11D-A397-08 C15orf41-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000419741.1 0 0 0 19 403 1 58 0 6.137167e-02 2 17 1 58 3 0 0 0 0 0 2 0 0.353964 19 397 1 58 22 0 0 0 0 0 2 -4.106372 1 0 0 0 1 0 0 0 2.018792 0 0.630000 1.930000 0.625279 0.140000 8.000000e-02 0.210000 0.140000 0.147651 0.140000 0 0.100000 0.180000 RPAP1 26015 broad.mit.edu 37 15 41813192 41813192 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr15:41813192C>T ENST00000304330.4 - 22 3308 c.3192G>A c.(3190-3192)tcG>tcA p.S1064S RPAP1_ENST00000561603.1_Intron NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) CTCGGGCTGGCGAGCAATGAG 0.662000 0 SO:0001819 synonymous_variant ENST00000304330.4 1 1 hg19 CCDS10079.1 TCGA-HV-AA8X-01A-11D-A397-08 RPAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252694.2 1 0 1 61 182 0 46 1 9.996594e-01 16 23 0 46 2 0 0 0 0 0 2 1 1.000000 60 176 0 46 2 0 0 0 0 0 2 -4.774033 1 1 0 0 1 0 0 0 2.018792 0 0.630000 1.930000 0.625279 0.780000 6.200000e-01 0.950000 0.790000 0.790947 0.780000 0 0.690000 0.870000 ACAN 176 broad.mit.edu 37 15 89382241 89382241 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr15:89382241G>A ENST00000561243.1 + 2 418 c.418G>A c.(418-420)Gag>Aag p.E140K ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000439576.2_Missense_Mutation_p.E140K P16112 PGCA_HUMAN aggrecan 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCATGGCATCGAGGACAGCGA 0.612000 0 SO:0001583 missense ENST00000561243.1 1 1 hg19 CCDS53970.1 . . . . . . . . . . G 29.100000 4.980547 0.929820 . . ENSG00000157766 ENST00000439576;ENST00000352105;ENST00000268134 T;T 0.02656 4.21;4.21 5.600000 5.600000 0.851300 . 0.000000 0.33005 N 0.005399 T 0.20820 0.0501 M 0.88570 2.965 0.514820 D 0.999925 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.81914 0.931;0.949;0.995 T 0.00379 -1.1777 10 0.72032 D 0.01 -10.703 18.973300 0.927240 0.0:0.0:1.0:0.0 . 140;140;140 E7ENV9;E7EX88;Q6PID9 .;.;. K 140 ENSP00000387356:E140K;ENSP00000341615:E140K ENSP00000268134:E140K E + 1 0 ACAN 87183245 1 0.714170 9.860000e-01 0.454190 9.920000e-01 0.810270 9.715000 0.987480 2.806000 0.965610 0.655000 0.942530 GAG TCGA-HV-AA8X-01A-11D-A397-08 ACAN-006 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416267.2 1 0 1 146 282 0 93 0 1.173906e-01 0 2 0 93 2 0 0 0 0 0 2 1 1.000000 144 281 0 92 2 0 0 0 0 0 2 -14.451170 1 1 121108 8 40 1 0 0 0 2.018792 0 0.630000 1.930000 0.625279 0.990000 9.200000e-01 1.000000 1.000000 0.993905 0.990000 1 0.990000 1.000000 ST8SIA2 8128 broad.mit.edu 37 15 93007522 93007522 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr15:93007522G>A ENST00000268164.3 + 6 1272 c.1035G>A c.(1033-1035)ccG>ccA p.P345P ST8SIA2_ENST00000539113.1_Silent_p.P324P NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) AGGCCAGCCCGCATACCATGC 0.572000 0 SO:0001819 synonymous_variant ENST00000268164.3 1 1 hg19 CCDS10372.1 TCGA-HV-AA8X-01A-11D-A397-08 ST8SIA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313526.1 1 0 0 22 386 0 74 0 3.259868e-03 0 2 0 74 2 0 0 0 0 0 2 1 0.999999 22 385 0 74 2 0 0 0 0 0 2 -2.594330 1 1 121412 12 44 1 0 0 0 2.018792 0 0.630000 1.930000 0.625279 0.160000 1.000000e-01 0.250000 0.170000 0.175586 0.160000 0 0.130000 0.210000 SLC5A11 115584 broad.mit.edu 37 16 24883505 24883505 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr16:24883505G>A ENST00000347898.3 + 5 959 c.337G>A c.(337-339)Gcc>Acc p.A113T SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T NM_052944.3 NP_443176.2 solute carrier family 5 (sodium/inositol cotransporter), member 11 49 GCTGATGTTGGCCTGGATCTT 0.517000 0 SO:0001583 missense ENST00000347898.3 1 1 hg19 CCDS10625.1 . . . . . . . . . . g 22.000000 4.226797 0.795760 . . ENSG00000158865 ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472 D;D;D;D;D 0.87809 -2.3;-2.3;-2.3;-2.25;-2.3 4.890000 -1.420000 0.089130 . 0.240762 0.41001 D 0.000971 D 0.93396 0.7894 M 0.91140 3.18 0.373180 D 0.909431 P;P;B;D 0.64830 0.783;0.877;0.444;0.994 P;P;B;D 0.69479 0.542;0.628;0.36;0.964 D 0.93660 0.6981 10 0.87932 D 0 . 13.913300 0.638810 0.0:0.0:0.3469:0.6531 . 78;113;113;49 B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1 .;.;SC5AB_HUMAN;. T 113;49;113;78;49 ENSP00000289932:A113T;ENSP00000389606:A49T;ENSP00000416782:A113T;ENSP00000441384:A78T;ENSP00000441018:A49T ENSP00000289932:A113T A + 1 0 SLC5A11 24791006 1 0.714170 9.760000e-01 0.426960 9.940000e-01 0.842990 0.404000 0.209990 -0.547000 0.062070 0.443000 0.290940 GCC TCGA-HV-AA8X-01A-11D-A397-08 SLC5A11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214091.3 1 0 0 9 166 0 33 0 0 0 0 33 2 0 0 0 0 0 2 1 0.994300 9 164 0 32 2 0 0 0 0 0 2 -3.950166 1 1 0 0 1 0 1 1 2.036749 0 0.630000 1.930000 0.628831 0.160000 8.000000e-02 0.290000 0.160000 0.178191 0.160000 0 0.110000 0.230000 TPPP3 51673 broad.mit.edu 37 16 67424140 67424140 + Silent SNP G G A rs137924465 byFrequency TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr16:67424140G>A ENST00000564104.1 - 3 1309 c.468C>T c.(466-468)gaC>gaT p.D156D TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D|RNU1-123P_ENST00000458950.1_RNA Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 7 Ovarian(137;0.0563) AGCCACTGTCGTCCAGGATGT 0.627000 0 SO:0001819 synonymous_variant ENST00000564104.1 1 1 hg19 CCDS10835.1 TCGA-HV-AA8X-01A-11D-A397-08 TPPP3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421787.2 0 0 1 90 224 1 68 1 1 906 984 1 68 69 0 0 0 0 0 2 1 1.000000 90 223 1 68 16 0 0 0 0 0 2 -20.000000 1 1 121412 10 42 1 0 1 1 2.036749 0 0.630000 1.930000 0.628831 0.900000 7.500000e-01 1.000000 1.000000 0.903976 0.900000 1 0.820000 0.990000 C16orf74 404550 broad.mit.edu 37 16 85743833 85743833 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr16:85743833C>T ENST00000284245.4 - 3 292 c.109G>A c.(109-111)Gac>Aac p.D37N C16orf74_ENST00000602583.1_Missense_Mutation_p.D25N|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602766.1_5'UTR NM_206967.2 NP_996850.1 Q96GX8 CP074_HUMAN chromosome 16 open reading frame 74 ATGATGATGTCGGGCACGTCC 0.662000 0 SO:0001583 missense ENST00000284245.4 1 1 hg19 CCDS45540.1 . . . . . . . . . . C 5.934000 0.356442 0.112390 . . ENSG00000154102 ENST00000284245 . . . 4.850000 -0.840000 0.107550 . 0.448478 0.20948 N 0.082807 T 0.12220 0.0297 . . . 0.242420 N 0.995352 B 0.12630 0.006 B 0.06405 0.002 T 0.34725 -0.9817 8 0.02654 T 1 -27.196 8.054400 0.305960 0.0:0.3031:0.0:0.6969 . 37 Q96GX8 CP074_HUMAN N 37 . ENSP00000284245:D37N D - 1 0 C16orf74 84301334 9.800000e-01 0.346000 9.960000e-01 0.522420 9.860000e-01 0.746190 -0.165000 0.099680 -0.129000 0.116200 0.561000 0.740990 GAC TCGA-HV-AA8X-01A-11D-A397-08 C16orf74-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467253.1 1 0 1 20 34 0 15 1 9.997900e-01 6 24 0 15 2 0 0 0 0 0 2 1 0.999999 20 34 0 15 2 0 0 0 0 0 2 -20.000000 1 0 120106 2 29 1 0 1 1 2.036749 0 0.630000 1.930000 0.628831 0.990000 7.800000e-01 1.000000 1.000000 0.979696 0.990000 1 0.960000 1.000000 SLFN13 146857 broad.mit.edu 37 17 33771812 33771812 + Silent SNP G G T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr17:33771812G>T ENST00000285013.6 - 3 1163 c.888C>A c.(886-888)acC>acA p.T296T SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000542635.1_Silent_p.T296T NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 31 CTACGATTTTGGTGCTGTACT 0.413000 0 SO:0001819 synonymous_variant ENST00000285013.6 1 1 hg19 CCDS32620.1 TCGA-HV-AA8X-01A-11D-A397-08 SLFN13-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381883.1 1 0 1 144 689 0 99 1 9.997143e-01 3 55 0 99 2 0 0 0 0 0 2 1 1.000000 142 686 0 98 2 0 0 0 0 0 2 -2.890562 1 1 121412 1 33 1 1 3 4 3.365530 1 0.630000 1.930000 0.773006 0.890000 7.600000e-01 1.000000 1.000000 0.895798 0.890000 1 0.820000 0.970000 PLEKHH3 79990 broad.mit.edu 37 17 40825305 40825305 + Missense_Mutation SNP C C T rs139853357 TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr17:40825305C>T ENST00000591022.1 - 6 1045 c.658G>A c.(658-660)Ggg>Agg p.G220R PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R NM_024927.4 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 13 Breast(137;0.00116) TCTGGGTCCCCGCAACTTTCC 0.597000 0 SO:0001583 missense ENST00000591022.1 1 1 hg19 CCDS11434.1 . . . . . . . . . . C 13.270000 2.186768 0.386090 4.54E-4 0.0 ENSG00000068137 ENST00000293349;ENST00000412503 T;T 0.45276 0.9;0.9 5.550000 2.390000 0.294390 . 0.526619 0.17507 N 0.171775 T 0.19485 0.0468 N 0.14661 0.345 0.093100 N 1.000000 B;B 0.30741 0.143;0.293 B;B 0.15484 0.013;0.01 T 0.13202 -1.0518 10 0.22706 T 0.39 -25.3623 6.860400 0.240640 0.0:0.4169:0.428:0.155 . 220;220 Q7Z736-2;Q7Z736 .;PKHH3_HUMAN R 220 ENSP00000293349:G220R;ENSP00000411885:G220R ENSP00000293349:G220R G - 1 0 PLEKHH3 38078831 0 0.058580 2.020000e-01 0.234940 9.540000e-01 0.612520 0.178000 0.168200 0.415000 0.258170 0.655000 0.942530 GGG TCGA-HV-AA8X-01A-11D-A397-08 PLEKHH3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000452332.1 1 0 1 96 139 0 77 1 9.999966e-01 26 5 0 77 2 0 0 0 0 0 2 1 1.000000 96 138 0 77 2 0 0 0 0 0 2 -3.142702 1 1 121410 10 41 1 0 1 1 1.405324 1 0.630000 1.930000 0.459854 0.870000 7.400000e-01 0.990000 0.880000 0.878064 0.870000 1 0.800000 0.940000 CACNA1G 8913 broad.mit.edu 37 17 48650072 48650072 + Missense_Mutation SNP T T C TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr17:48650072T>C ENST00000359106.5 + 6 904 c.904T>C c.(904-906)Tat>Cat p.Y302H CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H NM_018896.4 NP_061496.2 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGGTCTGGACTATGAGGCCTA 0.637000 0 SO:0001583 missense ENST00000359106.5 1 1 hg19 CCDS45730.1 . . . . . . . . . . t 10.560000 1.385505 0.250310 . . ENSG00000006283 ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.96967 -4.04;-4.04;-4.19;-3.98;-4.03;-4.04;-4.06;-4.14;-4.1;-4.12;-4.13;-4.0;-4.01;-4.08;-4.03;-3.98;-4.06;-4.02;-4.0;-4.07;-4.04;-4.01;-4.06;-4.0;-4.06;-4.06 5.360000 4.290000 0.510400 Ion transport (1); 0.408184 0.18169 N 0.149521 D 0.96163 0.8749 L 0.39245 1.2 0.345680 D 0.713136 D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D 0.89917 0.999;0.015;0.99;0.998;0.994;0.999;0.999;0.014;0.999;0.015;0.014;0.012;0.015;0.014;1.0;0.007;0.999;0.028;0.015;0.015;0.999;0.015;0.014;0.016;0.002;0.998 D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D 0.87578 0.997;0.035;0.942;0.986;0.942;0.972;0.998;0.035;0.994;0.035;0.016;0.021;0.035;0.035;0.998;0.035;0.992;0.011;0.035;0.035;0.996;0.035;0.027;0.052;0.003;0.985 D 0.96169 0.9121 10 0.42905 T 0.14 . 8.063800 0.306480 0.0:0.1531:0.0:0.8469 . 302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302 Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11 .;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;. H 302 ENSP00000353990:Y302H;ENSP00000339302:Y302H;ENSP00000392390:Y302H;ENSP00000347078:Y302H;ENSP00000409759:Y302H;ENSP00000425522:Y302H;ENSP00000426261:Y302H;ENSP00000425451:Y302H;ENSP00000422407:Y302H;ENSP00000426814:Y302H;ENSP00000427238:Y302H;ENSP00000423112:Y302H;ENSP00000420918:Y302H;ENSP00000426172:Y302H;ENSP00000423045:Y302H;ENSP00000427173:Y302H;ENSP00000426098:Y302H;ENSP00000425698:Y302H;ENSP00000426232:Y302H;ENSP00000423317:Y302H;ENSP00000350979:Y302H;ENSP00000352011:Y302H;ENSP00000414388:Y302H;ENSP00000423155:Y302H;ENSP00000422268:Y302H;ENSP00000421518:Y302H ENSP00000339302:Y302H Y + 1 0 CACNA1G 46005071 1 0.714170 1 0.803570 5.230000e-01 0.344690 2.449000 0.449350 2.055000 0.611980 0.414000 0.278200 TAT TCGA-HV-AA8X-01A-11D-A397-08 CACNA1G-013 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000367895.1 1 0 1 37 78 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 1.000000 37 78 0 19 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.050067 0 0.630000 1.930000 0.630000 0.990000 7.600000e-01 1.000000 1.000000 0.957725 0.990000 1 0.880000 1.000000 TP53 7157 broad.mit.edu 37 17 7577505 7577505 + Missense_Mutation SNP T T A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 T A T T Valid Somatic Phase_I WXS targeted Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr17:7577505T>A ENST00000269305.4 - 7 965 c.776A>T c.(775-777)gAc>gTc p.D259V TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) TGACCTGGAGTCTTCCAGTGT 0.587000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 41 Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1) SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . T 14.780000 2.636906 0.470490 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690 D;D;D;D;D;D;D 0.99793 -6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77 4.520000 4.520000 0.553950 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.164918 0.53938 D 0.000053 D 0.99557 0.9841 M 0.82630 2.6 0.807220 D 1.000000 P;P;P;P;P 0.52842 0.482;0.483;0.537;0.815;0.956 P;B;P;P;P 0.57244 0.692;0.401;0.63;0.795;0.816 D 0.98404 1.0569 10 0.62326 D 0.03 -22.926 7.641600 0.282960 0.1888:0.0:0.0:0.8112 . 259;259;259;259;259 P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7 .;.;P53_HUMAN;.;. V 259;259;259;259;259;259;248;127 ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V ENSP00000269305:D259V D - 2 0 TP53 7518230 1 0.714170 1 0.803570 3.290000e-01 0.285390 2.616000 0.463760 2.036000 0.601810 0.379000 0.241790 GAC TCGA-HV-AA8X-01A-11D-A397-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 42 64 0 30 1 1 37 15 0 30 2 1 1 281 308 0 669 2 1 1.000000 41 64 0 30 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.422606 1 0.630000 1.930000 0.459854 0.830000 6.500000e-01 0.980000 0.850000 0.840095 0.830000 0 0.740000 0.930000 OSBPL1A 114876 broad.mit.edu 37 18 21894274 21894274 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr18:21894274C>T ENST00000319481.3 - 12 1114 c.908G>A c.(907-909)tGc>tAc p.C303Y OSBPL1A_ENST00000357041.4_5'Flank NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) GTCATCAAAGCATTTAATAAA 0.363000 0 SO:0001583 missense ENST00000319481.3 1 1 hg19 CCDS11884.1 . . . . . . . . . . C 22.700000 4.328865 0.816900 . . ENSG00000141447 ENST00000319481 T 0.43688 0.94 5.700000 5.700000 0.887880 Pleckstrin homology-type (1);Pleckstrin homology domain (2); 0.000000 0.85682 D 0.000000 T 0.65260 0.2674 M 0.68593 2.085 0.807220 D 1.000000 D;D 0.76494 0.999;0.995 D;D 0.83275 0.996;0.986 T 0.62676 -0.6804 10 0.45353 T 0.12 -16.9032 19.816100 0.965680 0.0:1.0:0.0:0.0 . 303;303 B0YJ56;Q9BXW6 .;OSBL1_HUMAN Y 303 ENSP00000320291:C303Y ENSP00000320291:C303Y C - 2 0 OSBPL1A 20148272 1 0.714170 1 0.803570 9.600000e-01 0.627990 6.709000 0.746650 2.680000 0.912920 0.585000 0.799380 TGC TCGA-HV-AA8X-01A-11D-A397-08 OSBPL1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254902.1 1 0 1 65 305 0 55 0 5.495974e-01 0 10 0 55 2 0 0 0 0 0 2 1 1.000000 64 304 0 55 2 0 0 0 0 0 2 -20.000000 1 0 0 0 1 0 0 0 2.029361 0 0.630000 1.930000 0.627654 0.550000 4.300000e-01 0.680000 0.550000 0.558792 0.550000 0 0.490000 0.620000 OSBPL1A 114876 broad.mit.edu 37 18 21897296 21897296 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr18:21897296C>T ENST00000319481.3 - 10 1007 c.801G>A c.(799-801)agG>agA p.R267R NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CTTACTGTTTCCTATACCATG 0.313000 0 SO:0001819 synonymous_variant ENST00000319481.3 1 1 hg19 CCDS11884.1 TCGA-HV-AA8X-01A-11D-A397-08 OSBPL1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254902.1 1 0 1 189 251 0 61 0 8.751383e-01 0 7 0 61 2 0 0 0 0 0 2 1 1.000000 188 249 0 61 2 0 0 0 0 0 2 -20.000000 1 1 121408 1 34 1 0 0 0 2.029361 0 0.630000 1.930000 0.627654 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 OSBPL1A 114876 broad.mit.edu 37 18 21898597 21898597 + Missense_Mutation SNP C C A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr18:21898597C>A ENST00000319481.3 - 9 906 c.700G>T c.(700-702)Gca>Tca p.A234S NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CGTTTCAATGCTTTGTAGATG 0.279000 0 SO:0001583 missense ENST00000319481.3 1 1 hg19 CCDS11884.1 . . . . . . . . . . C 4.909000 0.169002 0.093390 . . ENSG00000141447 ENST00000319481 T 0.44881 0.91 5.560000 1.490000 0.228780 Ankyrin repeat-containing domain (2); 0.491348 0.21599 N 0.071965 T 0.22551 0.0544 N 0.25647 0.755 0.584320 D 0.999998 B;B 0.12630 0.006;0.006 B;B 0.15870 0.014;0.014 T 0.07731 -1.0757 10 0.08599 T 0.76 -5.6116 6.442700 0.218590 0.1097:0.4683:0.3476:0.0743 . 234;234 B0YJ56;Q9BXW6 .;OSBL1_HUMAN S 234 ENSP00000320291:A234S ENSP00000320291:A234S A - 1 0 OSBPL1A 20152595 6.760000e-01 0.275670 8.510000e-01 0.335270 8.730000e-01 0.501930 0.364000 0.203250 0.284000 0.223050 0.650000 0.862430 GCA TCGA-HV-AA8X-01A-11D-A397-08 OSBPL1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254902.1 1 0 1 89 343 0 58 0 3.626491e-01 0 6 0 58 2 0 0 0 0 0 2 1 1.000000 89 341 0 58 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.029361 0 0.630000 1.930000 0.627654 0.640000 5.300000e-01 0.770000 0.650000 0.653284 0.640000 0 0.580000 0.710000 SMAD4 4089 broad.mit.edu 37 18 48575209 48575209 + Nonsense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr18:48575209C>T ENST00000342988.3 + 3 941 c.403C>T c.(403-405)Cga>Tga p.R135* SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.R135*(4)|p.?(4) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) TCACTACGAACGAGTTGTATC 0.328000 44 Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(4) GRCh37 CM064283 SMAD4 M SO:0001587 stop_gained ENST00000342988.3 0 1 hg19 CCDS11950.1 . . . . . . . . . . C 42.000000 9.183954 0.990920 . . ENSG00000141646 ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417 . . . 5.480000 4.570000 0.564350 . 0.000000 0.85682 D 0.000000 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.02654 T 1 . 14.592500 0.683780 0.1465:0.8535:0.0:0.0 . . . . X 135 . ENSP00000341551:R135X R + 1 2 SMAD4 46829207 9.990000e-01 0.422020 1 0.803570 9.960000e-01 0.888480 0.732000 0.260720 2.540000 0.856660 0.585000 0.799380 CGA TCGA-HV-AA8X-01A-11D-A397-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 0 9 120 0 39 1 4.705243e-01 3 18 0 39 2 1 9.999691e-01 20 292 0 342 2 1 0.994360 9 118 0 39 2 0 0 0 0 0 2 -13.213000 1 1 0 0 1 0 1 1 1.390667 1 0.630000 1.930000 0.459854 0.150000 7.000000e-02 0.270000 0.150000 0.164494 0.150000 0 0.100000 0.210000 ALPK2 115701 broad.mit.edu 37 18 56204451 56204451 + Missense_Mutation SNP T T C TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr18:56204451T>C ENST00000361673.3 - 5 3181 c.2968A>G c.(2968-2970)Aca>Gca p.T990A RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 84 GTTAATGTTGTTGGCTTCTCC 0.488000 0 SO:0001583 missense ENST00000361673.3 0 1 hg19 CCDS11966.2 . . . . . . . . . . T 9.351000 1.065556 0.200670 . . ENSG00000198796 ENST00000361673 T 0.52295 0.67 5.410000 -6.330000 0.019880 . 1.692290 0.03097 N 0.160562 T 0.28234 0.0697 L 0.31926 0.97 0.093100 N 1.000000 B;B 0.22909 0.077;0.046 B;B 0.19391 0.025;0.011 T 0.07986 -1.0744 10 0.22109 T 0.4 0.3807 0.858100 0.011870 0.2972:0.1997:0.0999:0.4031 . 990;990 Q86TB3-2;Q86TB3 .;ALPK2_HUMAN A 990 ENSP00000354991:T990A ENSP00000354991:T990A T - 1 0 ALPK2 54355431 0 0.058580 0 0.037020 3.000000e-03 0.035180 -0.379000 0.074370 -1.405000 0.020480 -2.480000 0.001980 ACA TCGA-HV-AA8X-01A-11D-A397-08 ALPK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256126.1 0 0 0 4 229 0 70 0 0 0 0 70 2 0 0 0 0 0 2 1 0.885993 4 224 0 69 2 0 0 0 0 0 2 -3.396322 1 1 0 0 1 0 1 1 1.390667 1 0.630000 1.930000 0.459854 0.030000 0 0.090000 0.040000 0.046016 0.030000 0 0.020000 0.070000 IL4I1 259307 broad.mit.edu 37 19 50399114 50399114 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr19:50399114G>A ENST00000391826.2 - 3 352 c.210C>T c.(208-210)gcC>gcT p.A70A IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000595948.1_Silent_p.A92A NM_152899.1 NP_690863.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) Flavin adenine dinucleotide(DB03147) CCACCAGCCCGGCCACACCAG 0.627000 0 SO:0001819 synonymous_variant ENST00000391826.2 1 1 hg19 CCDS12787.1 TCGA-HV-AA8X-01A-11D-A397-08 IL4I1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466413.1 1 0 0 32 660 0 146 0 2.095457e-02 0 5 0 146 2 0 0 0 0 0 2 1 1.000000 32 655 0 146 2 0 0 0 0 0 2 -4.599387 1 1 121410 1 36 1 1 2 3 2.058099 0 0.630000 1.930000 0.631162 0.140000 9.000000e-02 0.210000 0.140000 0.151300 0.140000 0 0.110000 0.180000 SIGLEC7 27036 broad.mit.edu 37 19 51647834 51647834 + Missense_Mutation SNP T T C TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr19:51647834T>C ENST00000317643.6 + 2 674 c.605T>C c.(604-606)cTc>cCc p.L202P SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 29 all_neural(266;0.0199) TCCTCAGTGCTCACCCTCATC 0.657000 0 SO:0001583 missense ENST00000317643.6 0 1 hg19 CCDS12826.1 . . . . . . . . . . . 14.000000 2.404089 0.426130 . . ENSG00000168995 ENST00000317643 T 0.09630 2.96 2.900000 2.900000 0.337430 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.35555 N 0.003139 T 0.34600 0.0903 M 0.90483 3.12 0.436620 D 0.996083 D 0.89917 1.0 D 0.97110 1.0 T 0.16335 -1.0406 10 0.66056 D 0.02 . 7.642400 0.283000 0.0:0.0:0.0:1.0 . 202 Q9Y286 SIGL7_HUMAN P 202 ENSP00000323328:L202P ENSP00000323328:L202P L + 2 0 SIGLEC7 56339646 5.800000e-02 0.207350 6.470000e-01 0.295070 1.700000e-02 0.094130 3.019000 0.496350 1.360000 0.459600 0.432000 0.286060 CTC TCGA-HV-AA8X-01A-11D-A397-08 SIGLEC7-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464226.2 0 0 0 6 362 0 59 0 4.079551e-04 0 2 0 59 2 0 0 0 0 0 2 1 0.962842 5 355 0 58 2 0 0 0 0 0 2 -6.404988 1 1 0 0 1 1 2 3 2.058099 0 0.630000 1.930000 0.631162 0.050000 1.000000e-02 0.110000 0.060000 0.060179 0.050000 0 0.030000 0.080000 TSEN34 79042 broad.mit.edu 37 19 54696142 54696142 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr19:54696142C>T ENST00000396383.1 + 4 974 c.663C>T c.(661-663)taC>taT p.Y221Y MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000302937.4_Silent_p.Y221Y|MBOAT7_ENST00000338624.6_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000474910.1_5'Flank Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGCTGCGCTACAGTATCTACA 0.642000 Esophageal Squamous(37;841 964 4869 42824) 0 SO:0001819 synonymous_variant ENST00000396383.1 1 1 hg19 CCDS42609.1 TCGA-HV-AA8X-01A-11D-A397-08 TSEN34-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142200.1 1 0 1 51 245 0 57 1 1 32 140 0 57 2 0 0 0 0 0 2 1 1.000000 51 240 0 54 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.069353 0 0.630000 1.930000 0.632316 0.540000 4.200000e-01 0.720000 0.550000 0.560702 0.540000 0 0.480000 0.630000 LILRB1 10859 broad.mit.edu 37 19 55144146 55144146 + Missense_Mutation SNP A A C TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr19:55144146A>C ENST00000396331.1 + 7 1250 c.893A>C c.(892-894)tAc>tCc p.Y298S LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 74 TACAGATGCTACGGTGCACAC 0.672000 HNSCC(37;0.09) 0 SO:0001583 missense ENST00000396331.1 0 1 hg19 CCDS42617.1 . . . . . . . . . . A 5.091000 0.202429 0.096520 . . ENSG00000104972 ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315 T;T;T;T;T;T;T;T;T;T;T 0.11604 2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76 2.030000 0.938000 0.195000 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 0.252811 0.20873 N 0.084132 T 0.16557 0.0398 M 0.74467 2.265 0.093100 N 0.999994 B;B;P;B;B 0.37233 0.34;0.004;0.588;0.01;0.005 B;B;P;B;B 0.45506 0.261;0.031;0.483;0.031;0.052 T 0.08848 -1.0702 10 0.48119 T 0.1 . 5.333400 0.159450 0.7111:0.2889:0.0:0.0 . 298;298;298;298;298 A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6 .;.;.;.;LIRB1_HUMAN S 298;298;298;298;298;298;298;298;334;298;298 ENSP00000379614:Y298S;ENSP00000391514:Y298S;ENSP00000409968:Y298S;ENSP00000379622:Y298S;ENSP00000379618:Y298S;ENSP00000315997:Y298S;ENSP00000405243:Y298S;ENSP00000379623:Y298S;ENSP00000395004:Y334S;ENSP00000379610:Y298S;ENSP00000379608:Y298S ENSP00000315997:Y298S Y + 2 0 LILRB1 59835958 0 0.058580 2.170000e-01 0.237590 9.000000e-03 0.068530 -0.248000 0.088540 0.015000 0.149710 -1.341000 0.012490 TAC TCGA-HV-AA8X-01A-11D-A397-08 LILRB1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000140796.4 0 0 0 5 276 0 53 0 0 0 1 0 53 2 0 0 0 0 0 2 1 0.931307 4 266 0 57 2 0 0 0 0 0 2 -2.586779 1 1 121412 35 46 1 0 0 0 2.046403 0 0.630000 1.930000 0.630000 0.050000 1.000000e-02 0.130000 0.060000 0.067131 0.050000 0 0.030000 0.090000 KIR3DL2 3812 broad.mit.edu 37 19 55378105 55378105 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr19:55378105G>A ENST00000326321.3 + 9 1320 c.1287G>A c.(1285-1287)acG>acA p.T429T KIR3DL2_ENST00000270442.5_Silent_p.T412T|KIR3DL1_ENST00000402254.2_Silent_p.T429T|RNU6-222P_ENST00000362438.1_RNA NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 23 GCGTGTACACGGAACTTCCAA 0.522000 0 SO:0001819 synonymous_variant ENST00000326321.3 1 1 hg19 CCDS12906.1 TCGA-HV-AA8X-01A-11D-A397-08 KIR3DL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000141241.1 1 0 0 288 599 0 186 0 0 0 0 186 2 0 0 0 0 0 2 1 1.000000 285 593 0 185 2 0 0 0 0 0 2 -19.883200 1 1 0 0 1 0 0 0 2.046403 0 0.630000 1.930000 0.630000 0.990000 9.200000e-01 1.000000 1.000000 0.991880 0.990000 1 0.970000 1.000000 ZNF266 10781 broad.mit.edu 37 19 9526402 9526402 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr19:9526402C>T ENST00000592904.1 - 4 2208 c.132G>A c.(130-132)gtG>gtA p.V44V ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000590306.1_Silent_p.V44V Q14584 ZN266_HUMAN zinc finger protein 266 28 TTTTAAGTTGCACTTTCCATT 0.418000 0 SO:0001819 synonymous_variant ENST00000592904.1 1 1 hg19 CCDS12213.1 TCGA-HV-AA8X-01A-11D-A397-08 ZNF266-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449033.1 0 0 0 9 232 0 46 1 6.444420e-02 2 8 0 46 2 0 0 0 0 0 2 1 0.994143 8 230 0 45 2 0 0 0 0 0 2 -10.564710 1 1 121412 2 31 1 0 0 0 2.022215 0 0.630000 1.930000 0.627654 0.120000 5.000000e-02 0.210000 0.120000 0.129499 0.120000 0 0.080000 0.170000 TMEM63A 9725 broad.mit.edu 37 1 226037743 226037743 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr1:226037743C>T ENST00000366835.3 - 21 2211 c.1941G>A c.(1939-1941)cgG>cgA p.R647R NM_014698.2 NP_055513.2 O94886 CSCL1_HUMAN transmembrane protein 63A 24 Breast(184;0.197) AGAGGTTGTGCCGGTCCACCA 0.602000 0 SO:0001819 synonymous_variant ENST00000366835.3 0 1 hg19 CCDS31042.1 TCGA-HV-AA8X-01A-11D-A397-08 TMEM63A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000091154.2 0 0 0 6 470 0 77 0 9.782602e-01 1 549 0 77 2 0 0 0 0 0 2 1 0.964027 6 465 0 77 2 0 0 0 0 0 2 -1.924587 0 1 0 0 1 1 2 3 2.645449 1 0.630000 1.930000 0.715220 0.050000 0 1.000000 0.060000 0.095629 0.050000 0 0.020000 0.090000 C1orf101 257044 broad.mit.edu 37 1 244724041 244724041 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr1:244724041G>A ENST00000366534.4 + 10 1155 c.1101G>A c.(1099-1101)aaG>aaA p.K367K C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.K367K NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 p.K367N(1) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TTCTTCTTAAGTTTGCCAGAT 0.408000 1 Substitution - Missense(1) SO:0001819 synonymous_variant ENST00000366534.4 1 1 hg19 CCDS44340.1 TCGA-HV-AA8X-01A-11D-A397-08 C1orf101-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096701.1 0 0 0 11 386 0 51 0 2.864080e-03 0 3 0 51 2 0 0 0 0 0 2 1 0.998316 11 383 0 50 2 0 0 0 0 0 2 -10.870750 1 1 0 0 1 1 2 3 2.645449 1 0.630000 1.930000 0.715220 0.110000 5.000000e-02 1.000000 0.120000 0.157187 0.110000 0 0.080000 0.170000 RAD54L 8438 broad.mit.edu 37 1 46726266 46726266 + Missense_Mutation SNP C C T rs149141765 TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr1:46726266C>T ENST00000371975.4 + 6 1134 c.460C>T c.(460-462)Cgg>Tgg p.R154W RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) p.R154W(1) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) TAAGGTTTTGCGGCCTCATCA 0.537000 Direct reversal of damage;Homologous recombination 1 Substitution - Missense(1) SO:0001583 missense ENST00000371975.4 0 1 hg19 CCDS532.1 . . . . . . . . . . C 18.390000 3.614125 0.666720 4.54E-4 0.0 ENSG00000085999 ENST00000442598;ENST00000371975 D;D 0.95205 -3.64;-3.64 5.750000 3.800000 0.437150 DEAD-like helicase (1); 0.000000 0.85682 D 0.000000 D 0.98327 0.9445 H 0.98446 4.235 0.807220 D 1.000000 D 0.89917 1.0 D 0.91635 0.999 D 0.98550 1.0636 10 0.87932 D 0 -18.6346 13.734800 0.628110 0.4359:0.5641:0.0:0.0 . 154 Q92698 RAD54_HUMAN W 154 ENSP00000396113:R154W;ENSP00000361043:R154W ENSP00000361043:R154W R + 1 2 RAD54L 46498853 9.990000e-01 0.422020 9.960000e-01 0.522420 9.980000e-01 0.957120 1.055000 0.304670 0.698000 0.317390 0.655000 0.942530 CGG TCGA-HV-AA8X-01A-11D-A397-08 RAD54L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000021272.1 0 0 0 5 346 0 63 0 2.560576e-02 0 14 0 63 2 0 0 0 0 0 2 1 0.934116 5 338 0 61 2 0 0 0 0 0 2 -1.705155 0 1 121412 2 39 1 0 0 0 2.046825 0 0.630000 1.930000 0.630000 0.040000 0 0.100000 0.040000 0.053756 0.040000 0 0.020000 0.080000 PER3 8863 broad.mit.edu 37 1 7887612 7887612 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr1:7887612C>T ENST00000361923.2 + 17 2774 c.2599C>T c.(2599-2601)Cca>Tca p.P867S RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P875S NM_016831.1 NP_058515.1 P56645 PER3_HUMAN period circadian clock 3 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) ATCGTTTTTGCCATGTCCATT 0.537000 0 SO:0001583 missense ENST00000361923.2 0 1 hg19 CCDS89.1 . . . . . . . . . . C 13.430000 2.234770 0.394980 . . ENSG00000049246 ENST00000377532;ENST00000361923;ENST00000539773 T;T 0.13196 2.61;2.65 4.320000 4.320000 0.515710 . 0.845655 0.10846 N 0.627733 T 0.12178 0.0296 L 0.41573 1.285 0.093100 N 0.999997 P;P;P;P 0.46784 0.816;0.816;0.884;0.816 B;B;B;B 0.39152 0.152;0.152;0.292;0.152 T 0.13176 -1.0519 10 0.46703 T 0.11 . 9.484300 0.389190 0.0:0.892:0.0:0.108 . 867;875;875;867 A2I2N5;A6H8X0;P56645-2;P56645 .;.;.;PER3_HUMAN S 875;867;78 ENSP00000366755:P875S;ENSP00000355031:P867S ENSP00000355031:P867S P + 1 0 PER3 7810199 1.000000e-03 0.127200 4.900000e-02 0.190190 5.700000e-02 0.155080 0.675000 0.252320 2.240000 0.736410 0.555000 0.697020 CCA TCGA-HV-AA8X-01A-11D-A397-08 PER3-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000003607.1 0 0 0 7 765 0 149 0 9.266273e-02 0 48 0 149 2 0 0 0 0 0 2 1 0.979723 7 755 0 146 2 0 0 0 0 0 2 -1.879840 0 1 0 0 1 0 0 0 2.047870 0 0.630000 1.930000 0.630000 0.020000 0 0.060000 0.030000 0.031841 0.020000 0 0.010000 0.050000 RERE 473 broad.mit.edu 37 1 8418382 8418382 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr1:8418382G>A ENST00000337907.3 - 21 4847 c.4213C>T c.(4213-4215)Cgc>Tgc p.R1405C RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) GATGCCATGCGCTCTGCGTGG 0.642000 0 SO:0001583 missense ENST00000337907.3 0 1 hg19 CCDS95.1 . . . . . . . . . . G 22.900000 4.347872 0.820220 0.0 1.16E-4 ENSG00000142599 ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908 T;T;T 0.60548 0.18;0.2;0.18 5.610000 5.610000 0.854770 . . . . . T 0.78065 0.4225 M 0.78637 2.42 0.807220 D 1.000000 D 0.89917 1.0 D 0.91635 0.999 T 0.79732 -0.1680 9 0.87932 D 0 -28.4026 18.989600 0.927860 0.0:0.0:1.0:0.0 . 1405 Q9P2R6 RERE_HUMAN C 1405;1137;851;1405 ENSP00000338629:R1405C;ENSP00000366684:R1137C;ENSP00000383700:R1405C ENSP00000338629:R1405C R - 1 0 RERE 8340969 1 0.714170 1 0.803570 9.680000e-01 0.652780 4.049000 0.573970 2.793000 0.961210 0.655000 0.942530 CGC TCGA-HV-AA8X-01A-11D-A397-08 RERE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000004916.1 1 0 1 11 86 0 19 1 9.978381e-01 12 78 0 19 2 0 0 0 0 0 2 1 0.998658 11 86 0 19 2 0 0 0 0 0 2 -17.733590 1 0 121310 1 21 1 0 0 0 2.047870 0 0.630000 1.930000 0.630000 0.360000 1.900000e-01 0.590000 0.360000 0.382482 0.360000 0 0.270000 0.480000 KIF16B 55614 broad.mit.edu 37 20 16360059 16360059 + Missense_Mutation SNP C C G TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr20:16360059C>G ENST00000354981.2 - 19 2745 c.2588G>C c.(2587-2589)tGt>tCt p.C863S KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 74 ACATTTTAAACACTCTAGGAT 0.403000 0 SO:0001583 missense ENST00000354981.2 0 1 hg19 CCDS13122.1 . . . . . . . . . . C 0.484000 -0.878412 0.025500 . . ENSG00000089177 ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042 T;T;T;T 0.15603 2.41;2.41;2.41;2.41 5.600000 -10.400000 0.003180 . 0.880733 0.10214 N 0.701715 T 0.04952 0.0133 N 0.08118 0 0.093100 N 1.000000 B;B;B;B 0.12013 0.001;0.005;0.001;0.001 B;B;B;B 0.13407 0.006;0.009;0.009;0.003 T 0.26780 -1.0093 10 0.17832 T 0.49 . 5.157200 0.150400 0.1466:0.2449:0.073:0.5355 . 863;863;863;863 Q96L93-4;Q96L93-2;Q96L93-6;Q96L93 .;.;.;KI16B_HUMAN S 863;863;707;89;863 ENSP00000347076:C863S;ENSP00000347995:C863S;ENSP00000367242:C89S;ENSP00000384164:C863S ENSP00000347076:C863S C - 2 0 KIF16B 16308059 0 0.058580 0 0.037020 1.000000e-03 0.015030 -0.795000 0.045800 -2.085000 0.008640 -0.781000 0.033640 TGT TCGA-HV-AA8X-01A-11D-A397-08 KIF16B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078104.2 0 0 0 9 485 0 92 0 2.911041e-02 0 13 0 92 2 0 0 0 0 0 2 1 0.994141 9 482 0 92 2 0 0 0 0 0 2 -7.927780 1 1 0 0 1 0 0 0 2.039696 0 0.630000 1.930000 0.630000 0.050000 2.000000e-02 0.110000 0.060000 0.063919 0.050000 0 0.030000 0.080000 MCM5 4174 broad.mit.edu 37 22 35796511 35796511 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr22:35796511G>A ENST00000216122.4 + 2 234 c.80G>A c.(79-81)cGc>cAc p.R27H MCM5_ENST00000382011.5_Missense_Mutation_p.R27H NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 29 GGGCAGGCCCGCAAATCGCAG 0.647000 0 SO:0001583 missense ENST00000216122.4 0 1 hg19 CCDS13915.1 . . . . . . . . . . G 19.690000 3.874705 0.721800 . . ENSG00000100297 ENST00000216122;ENST00000382011;ENST00000416905 T;T;T 0.31247 4.19;3.84;1.5 5.080000 5.080000 0.687300 . 0.420814 0.26563 N 0.023669 T 0.14787 0.0357 N 0.03608 -0.345 0.416280 D 0.989009 B;B 0.11235 0.004;0.004 B;B 0.04013 0.001;0.001 T 0.07195 -1.0785 10 0.41790 T 0.15 -21.2565 11.579700 0.508830 0.0832:0.0:0.9168:0.0 . 27;27 B1AHB1;P33992 .;MCM5_HUMAN H 27 ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H ENSP00000216122:R27H R + 2 0 MCM5 34126511 1 0.714170 1 0.803570 9.920000e-01 0.810270 6.291000 0.727190 2.342000 0.796320 0.455000 0.322230 CGC TCGA-HV-AA8X-01A-11D-A397-08 MCM5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320661.3 0 0 0 5 282 0 57 0 4.178626e-01 0 71 0 57 2 0 0 0 0 0 2 1 0.936926 6 279 0 57 2 0 0 0 0 0 2 -2.686801 1 1 0 0 1 0 0 0 2.026077 0 0.630000 1.930000 0.627654 0.050000 1.000000e-02 0.120000 0.060000 0.065343 0.050000 0 0.030000 0.090000 DPP10 57628 broad.mit.edu 37 2 116066832 116066832 + Missense_Mutation SNP C C A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:116066832C>A ENST00000410059.1 + 2 558 c.78C>A c.(76-78)agC>agA p.S26R DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 101 GAAGTAACAGCCCTCCACAGA 0.403000 0 SO:0001583 missense ENST00000410059.1 1 1 hg19 CCDS46400.1 . . . . . . . . . . C 12.680000 2.011923 0.355110 . . ENSG00000175497 ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323 T;T;T;T 0.42513 0.97;0.97;0.97;0.97 5.600000 2.800000 0.328190 . 0.000000 0.85682 D 0.000000 T 0.39306 0.1073 M 0.66939 2.045 0.493890 D 0.999782 B;B;B;B 0.34103 0.331;0.437;0.113;0.192 B;B;B;B 0.32342 0.144;0.117;0.046;0.046 T 0.48139 -0.9061 10 0.87932 D 0 -1.0384 10.657200 0.456820 0.0:0.7958:0.0:0.2042 . 19;30;22;26 Q8N608-2;Q0GLB8;Q0GLB9;Q8N608 .;.;.;DPP10_HUMAN R 26;22;30;19 ENSP00000386565:S26R;ENSP00000376854:S22R;ENSP00000376855:S30R;ENSP00000309066:S19R ENSP00000309066:S19R S + 3 2 DPP10 115783302 9.990000e-01 0.422020 1 0.803570 9.980000e-01 0.957120 0.653000 0.249020 1.369000 0.461340 0.655000 0.942530 AGC TCGA-HV-AA8X-01A-11D-A397-08 DPP10-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000330580.4 1 0 1 48 130 0 19 1 5.156707e-01 5 1 0 19 2 0 0 0 0 0 2 1 1.000000 48 126 0 19 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.039531 0 0.630000 1.930000 0.630000 0.850000 6.500000e-01 1.000000 1.000000 0.856236 0.850000 1 0.750000 0.960000 NEB 4703 broad.mit.edu 37 2 152420121 152420121 + Splice_Site SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:152420121G>A ENST00000172853.10 - 91 13736 c.13589C>T c.(13588-13590)gCg>gTg p.A4530V NEB_ENST00000603639.1_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V|NEB_ENST00000427231.2_Splice_Site_p.A6231V|NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000397345.3_Splice_Site_p.A6231V P20929 NEBU_HUMAN nebulin p.A4530E(1)|p.A6231E(1) 301 TTTACTTACCGCACTCCTCAT 0.473000 2 Substitution - Missense(2) SO:0001630 splice_region_variant ENST00000172853.10 1 0 hg19 . . . . . . . . . . G 13.400000 2.225906 0.393000 2.53E-4 0.0 ENSG00000183091 ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853 T;T;T;T;T 0.32515 1.45;1.45;1.45;1.45;1.45 5.540000 -4.980000 0.030190 . 0.604415 0.18713 N 0.133230 T 0.22859 0.0552 L 0.44542 1.39 0.807220 D 1.000000 B;B 0.11235 0.001;0.004 B;B 0.11329 0.003;0.006 T 0.01805 -1.1270 10 0.39692 T 0.17 . 14.000500 0.644310 0.6299:0.0:0.3701:0.0 . 4530;961 P20929;Q14215 NEBU_HUMAN;. V 4530;6231;6231;579;961;4530 ENSP00000386259:A4530V;ENSP00000380505:A6231V;ENSP00000416578:A6231V;ENSP00000410961:A961V;ENSP00000172853:A4530V ENSP00000172853:A4530V A - 2 0 NEB 152128367 8.760000e-01 0.301320 5.370000e-01 0.280520 8.600000e-01 0.491310 0.075000 0.146860 -1.451000 0.019330 -0.259000 0.107100 GCG TCGA-HV-AA8X-01A-11D-A397-08 NEB-201 KNOWN basic protein_coding protein_coding 1 0 1 193 596 0 110 1 2.540230e-01 2 2 0 110 2 0 0 0 0 0 2 1 1.000000 193 593 0 110 2 0 0 0 0 0 2 -20.000000 1 1 120904 5 43 1 1 2 3 2.468950 1 0.630000 1.930000 0.703727 0.980000 8.500000e-01 1.000000 1.000000 0.965202 0.980000 1 0.910000 1.000000 TTN 7273 broad.mit.edu 37 2 179438185 179438185 + Missense_Mutation SNP G G A rs55992239 TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:179438185G>A ENST00000591111.1 - 276 67975 c.67751C>T c.(67750-67752)cCg>cTg p.P22584L TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P24225L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTTTGGGCGGATCAGGGGG 0.438000 0 SO:0001583 missense ENST00000591111.1 0 1 hg19 . . . . . . . . . . G 15.340000 2.804563 0.503150 0.0 3.63E-4 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.59772 0.24;0.24;0.24;0.24 6.080000 6.080000 0.989890 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.84656 0.5520 H 0.95402 3.665 0.807220 D 1.000000 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.999;0.999;0.999 D 0.87855 0.2660 9 0.87932 D 0 . 20.663400 0.996620 0.0:0.0:1.0:0.0 rs55992239 15160;15285;15352;22584 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN L 21657;15160;15352;15285;15158 ENSP00000343764:P21657L;ENSP00000434586:P15160L;ENSP00000340554:P15352L;ENSP00000352154:P15285L ENSP00000340554:P15352L P - 2 0 TTN 179146431 1 0.714170 1 0.803570 9.960000e-01 0.888480 9.807000 0.991710 2.894000 0.992530 0.655000 0.942530 CCG TCGA-HV-AA8X-01A-11D-A397-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 5 477 0 54 0 0 0 0 54 2 0 0 0 0 0 2 1 0.934700 5 468 0 54 2 0 0 0 0 0 2 -2.303879 0 1 118970 8 44 1 1 2 3 2.468950 1 0.630000 1.930000 0.703727 0.040000 0 1.000000 0.050000 0.198145 0.040000 0 0.020000 0.130000 TTN 7273 broad.mit.edu 37 2 179635138 179635138 + Splice_Site SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:179635138C>T ENST00000591111.1 - 35 8605 c.e35+1 TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000584485.1_RNA Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATCAACTTACTCTCCACGTG 0.433000 0 SO:0001630 splice_region_variant ENST00000591111.1 1 1 hg19 . . . . . . . . . . C 21.000000 4.080897 0.765280 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870 . . . 6.060000 6.060000 0.983530 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 20.628200 0.995210 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . TTN 179343383 1 0.714170 1 0.803570 7.020000e-01 0.406080 7.814000 0.861540 2.871000 0.984540 0.655000 0.942530 . TCGA-HV-AA8X-01A-11D-A397-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 11 364 0 62 0 0 0 0 62 2 0 0 0 1 0 0 2 1 0.998367 11 363 0 62 2 0 0 0 0 0 2 -11.311390 1 1 0 0 1 1 2 3 2.468950 1 0.630000 1.930000 0.703727 0.120000 5.000000e-02 1.000000 0.110000 0.263749 0.120000 0 0.080000 0.250000 FN1 2335 broad.mit.edu 37 2 216274779 216274779 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:216274779G>A ENST00000359671.1 - 14 2265 c.2000C>T c.(1999-2001)aCc>aTc p.T667I FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000354785.4_Missense_Mutation_p.T667I P02751 FINC_HUMAN fibronectin 1 FN1/ALK(2) 109 Renal(323;0.127) Ocriplasmin(DB08888) GCCTTTGATGGTGTAGGAGTT 0.488000 0 SO:0001583 missense ENST00000359671.1 1 1 hg19 . . . . . . . . . . G 21.700000 4.187476 0.787890 . . ENSG00000115414 ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005 T;T;T;T;T;T;T;T;T;T;T;T;T 0.60920 0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15 5.650000 2.880000 0.335530 . 0.312951 0.30969 N 0.008503 T 0.67711 0.2922 L 0.55990 1.75 0.807220 D 1.000000 D;D;P;P;P;D;D;P;P;D 0.89917 1.0;0.999;0.85;0.894;0.913;1.0;1.0;0.894;0.894;1.0 D;D;P;P;P;D;D;P;P;D 0.91635 0.999;0.995;0.521;0.701;0.711;0.989;0.999;0.701;0.701;0.999 T 0.65429 -0.6170 10 0.41790 T 0.15 . 10.478400 0.446780 0.2083:0.0:0.7917:0.0 . 667;667;667;667;667;667;667;667;667;667 P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15 .;.;.;.;.;.;.;.;.;. I 667 ENSP00000394423:T667I;ENSP00000323534:T667I;ENSP00000338200:T667I;ENSP00000350534:T667I;ENSP00000346839:T667I;ENSP00000352696:T667I;ENSP00000265312:T667I;ENSP00000273049:T667I;ENSP00000349509:T667I;ENSP00000410422:T667I;ENSP00000415018:T667I;ENSP00000399538:T667I;ENSP00000348285:T667I ENSP00000265313:T667I T - 2 0 FN1 215983024 1 0.714170 9.980000e-01 0.565050 9.990000e-01 0.989320 5.754000 0.687430 0.870000 0.357260 0.655000 0.942530 ACC TCGA-HV-AA8X-01A-11D-A397-08 FN1-204 KNOWN basic protein_coding protein_coding 1 0 0 107 103 0 31 0 1 0 180 0 31 2 0 0 0 0 0 2 1 1.000000 106 102 0 31 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.468950 1 0.630000 1.930000 0.703727 0.990000 9.900000e-01 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 C2orf71 388939 broad.mit.edu 37 2 29296840 29296840 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:29296840G>A ENST00000331664.5 - 1 287 c.288C>T c.(286-288)acC>acT p.T96T NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 60 AAGAGGTTTTGGTTCCTGGGA 0.483000 0 SO:0001819 synonymous_variant ENST00000331664.5 1 1 hg19 CCDS42669.1 TCGA-HV-AA8X-01A-11D-A397-08 C2orf71-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000324924.3 1 0 1 184 392 0 123 0 0 0 1 0 123 2 0 0 0 0 0 2 1 1.000000 183 390 0 123 2 0 0 0 0 0 2 -14.444490 1 1 0 0 1 0 0 0 2.039820 0 0.630000 1.930000 0.630000 0.990000 8.900000e-01 1.000000 1.000000 0.982143 0.990000 1 0.940000 1.000000 SOX11 6664 broad.mit.edu 37 2 5833606 5833606 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:5833606G>A ENST00000322002.3 + 1 808 c.753G>A c.(751-753)ccG>ccA p.P251P AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) AGGAACCACCGCACCAGCAGC 0.657000 0 SO:0001819 synonymous_variant ENST00000322002.3 0 1 hg19 CCDS1654.1 TCGA-HV-AA8X-01A-11D-A397-08 SOX11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206698.1 1 0 0 10 28 0 10 0 8.048780e-02 0 2 0 10 2 0 0 0 0 0 2 1 0.997875 9 28 0 10 2 0 0 0 0 0 2 -19.987300 1 1 0 0 1 0 0 0 2.039820 0 0.630000 1.930000 0.630000 0.840000 4.600000e-01 1.000000 1.000000 0.823198 0.840000 0 0.630000 1.000000 VWA3B 200403 broad.mit.edu 37 2 98928694 98928694 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr2:98928694G>A ENST00000477737.1 + 28 3971 c.3767G>A c.(3766-3768)cGt>cAt p.R1256H VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 70 GCGGCCGGGCGTCTAGGACTC 0.607000 0 SO:0001583 missense ENST00000477737.1 1 1 hg19 CCDS42718.1 . . . . . . . . . . G 9.632000 1.136653 0.211230 . . ENSG00000168658 ENST00000477737;ENST00000473149;ENST00000358269 T 0.07216 3.21 4.090000 -2.350000 0.066840 . . . . . T 0.03136 0.0092 N 0.08118 0 0.093100 N 1.000000 B 0.21452 0.056 B 0.13407 0.009 T 0.41466 -0.9507 9 0.39692 T 0.17 . 1.152600 0.017890 0.3414:0.1436:0.3684:0.1466 . 1256 Q502W6 VWA3B_HUMAN H 1256;722;378 ENSP00000417955:R1256H ENSP00000351009:R378H R + 2 0 VWA3B 98295126 0 0.058580 0 0.037020 0 0.004340 -0.062000 0.116740 -0.480000 0.068030 -1.121000 0.020130 CGT TCGA-HV-AA8X-01A-11D-A397-08 VWA3B-020 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353469.2 1 0 1 69 112 0 46 0 0 0 1 0 46 2 0 0 0 0 0 2 1 1.000000 69 111 0 46 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.039820 0 0.630000 1.930000 0.630000 0.990000 9.800000e-01 1.000000 1.000000 0.998782 0.990000 1 0.990000 1.000000 CAND2 23066 broad.mit.edu 37 3 12856671 12856671 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr3:12856671C>T ENST00000456430.2 + 8 1079 c.1038C>T c.(1036-1038)gaC>gaT p.D346D CAND2_ENST00000295989.5_Silent_p.D253D NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 37 ATGACGATGACATGAGCTGGA 0.617000 GBM(43;676 868 1633 6395 37496) 0 SO:0001819 synonymous_variant ENST00000456430.2 1 1 hg19 CCDS54554.1 TCGA-HV-AA8X-01A-11D-A397-08 CAND2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339856.4 1 0 1 66 74 0 50 0 2.243672e-01 0 2 0 50 2 0 0 0 0 0 2 1 1.000000 65 74 0 50 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.411057 1 0.630000 1.930000 0.459854 0.940000 8.000000e-01 1.000000 0.990000 0.937121 0.940000 1 0.880000 0.990000 GPR171 29909 broad.mit.edu 37 3 150916417 150916417 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr3:150916417C>T ENST00000309180.5 - 3 987 c.757G>A c.(757-759)Gtc>Atc p.V253I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCAGTTATGACTTCTGTCTGG 0.458000 0 SO:0001583 missense ENST00000309180.5 0 1 hg19 CCDS3155.1 . . . . . . . . . . C 12.700000 2.016594 0.356060 . . ENSG00000174946 ENST00000309180 T 0.20738 2.05 5.610000 2.710000 0.320320 GPCR, rhodopsin-like superfamily (1); 0.245951 0.32028 N 0.006693 T 0.12944 0.0314 L 0.33485 1.01 0.310770 N 0.712308 B 0.10296 0.003 B 0.13407 0.009 T 0.22730 -1.0208 10 0.19147 T 0.46 -10.4765 6.008000 0.195570 0.2855:0.5747:0.0:0.1398 . 253 O14626 GP171_HUMAN I 253 ENSP00000308479:V253I ENSP00000308479:V253I V - 1 0 GPR171 152399107 3.500000e-02 0.197360 2.070000e-01 0.235840 9.870000e-01 0.754690 0.419000 0.212470 0.241000 0.212830 0.650000 0.862430 GTC TCGA-HV-AA8X-01A-11D-A397-08 GPR171-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357793.1 0 0 0 4 241 0 46 0 4.897479e-04 0 2 0 46 2 0 0 0 0 0 2 1 0.890149 4 240 0 46 2 0 0 0 0 0 2 -5.252497 1 1 0 0 1 0 1 1 2.037829 0 0.630000 1.930000 0.628831 0.050000 1.000000e-02 0.130000 0.060000 0.063813 0.050000 0 0.030000 0.090000 NEK10 152110 broad.mit.edu 37 3 27385769 27385769 + Missense_Mutation SNP A A T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr3:27385769A>T ENST00000429845.2 - 6 718 c.356T>A c.(355-357)aTa>aAa p.I119K NEK10_ENST00000341435.5_Missense_Mutation_p.I119K Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 41 TTACCTGCTTATGAGTCTATT 0.368000 0 SO:0001583 missense ENST00000429845.2 1 1 hg19 . . . . . . . . . . A 14.380000 2.516764 0.447630 . . ENSG00000163491 ENST00000341435;ENST00000396636;ENST00000435750 T;T 0.69806 -0.43;1.43 5.770000 4.600000 0.570740 . 0.321330 0.34362 N 0.004032 T 0.43322 0.1242 N 0.08118 0 0.807220 D 1.000000 B 0.27068 0.167 B 0.23275 0.045 T 0.39165 -0.9627 10 0.59425 D 0.04 . 7.836100 0.293710 0.7204:0.1429:0.0:0.1367 . 119 Q6ZWH5 NEK10_HUMAN K 119 ENSP00000343847:I119K;ENSP00000395338:I119K ENSP00000343847:I119K I - 2 0 NEK10 27360773 1 0.714170 1 0.803570 9.400000e-01 0.583320 1.392000 0.344860 1.093000 0.413770 0.533000 0.621200 ATA TCGA-HV-AA8X-01A-11D-A397-08 NEK10-016 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000438156.1 1 0 1 61 68 0 24 0 0 0 0 24 2 0 0 0 0 0 2 1 1.000000 61 67 0 24 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.411057 1 0.630000 1.930000 0.459854 0.940000 8.000000e-01 1.000000 0.990000 0.935054 0.940000 1 0.870000 0.990000 STAB1 23166 broad.mit.edu 37 3 52554552 52554552 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr3:52554552G>A ENST00000321725.6 + 53 5712 c.5636G>A c.(5635-5637)cGg>cAg p.R1879Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 76 TTTGAGACCCGGCCCCTGCGA 0.652000 0 SO:0001583 missense ENST00000321725.6 1 1 hg19 CCDS33768.1 . . . . . . . . . . G 7.127000 0.579134 0.136860 . . ENSG00000010327 ENST00000321725 D 0.84442 -1.85 5.580000 -3.300000 0.050030 . 0.623306 0.16047 N 0.232123 T 0.56863 0.2014 N 0.03608 -0.345 0.093100 N 1.000000 B 0.14012 0.009 B 0.06405 0.002 T 0.48603 -0.9021 10 0.25751 T 0.34 . 1.102400 0.016870 0.4049:0.1113:0.1451:0.3386 . 1879 Q9NY15 STAB1_HUMAN Q 1879 ENSP00000312946:R1879Q ENSP00000312946:R1879Q R + 2 0 STAB1 52529592 0 0.058580 1.000000e-03 0.086480 2.200000e-02 0.105750 0.111000 0.154580 -0.269000 0.092980 -0.136000 0.146810 CGG TCGA-HV-AA8X-01A-11D-A397-08 STAB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351380.2 1 0 1 45 72 0 31 0 9.376665e-01 0 10 0 31 2 0 0 0 0 0 2 1 1.000000 43 72 0 30 2 0 0 0 0 0 2 -20.000000 1 1 121274 1 32 1 0 1 1 1.411057 1 0.630000 1.930000 0.459854 0.820000 6.400000e-01 0.970000 0.830000 0.823216 0.820000 0 0.720000 0.910000 DMXL1 1657 broad.mit.edu 37 5 118484750 118484750 + Missense_Mutation SNP G G T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr5:118484750G>T ENST00000311085.8 + 18 3308 c.3228G>T c.(3226-3228)atG>atT p.M1076I DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) ACTTTGTGATGCATGTAAGTA 0.413000 0 SO:0001583 missense ENST00000311085.8 1 1 hg19 CCDS4125.1 . . . . . . . . . . G 13.780000 2.339688 0.413980 . . ENSG00000172869 ENST00000311085;ENST00000539542 T;T 0.30182 1.54;1.54 5.650000 5.650000 0.869990 . 0.039008 0.85682 D 0.000000 T 0.31949 0.0813 L 0.42581 1.335 0.510120 D 0.999902 B;B 0.21821 0.061;0.021 B;B 0.19946 0.027;0.012 T 0.03278 -1.1053 10 0.41790 T 0.15 -15.3466 20.096500 0.978490 0.0:0.0:1.0:0.0 . 1076;1076 F5H269;Q9Y485 .;DMXL1_HUMAN I 1076 ENSP00000309690:M1076I;ENSP00000439479:M1076I ENSP00000309690:M1076I M + 3 0 DMXL1 118512649 1 0.714170 1 0.803570 9.970000e-01 0.918780 4.545000 0.606980 2.824000 0.972090 0.655000 0.942530 ATG TCGA-HV-AA8X-01A-11D-A397-08 DMXL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250862.1 1 0 1 59 321 0 78 0 2.501606e-02 0 2 0 78 2 0 0 0 0 0 2 1 1.000000 59 317 0 78 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.049633 0 0.630000 1.930000 0.630000 0.490000 3.800000e-01 0.610000 0.490000 0.497850 0.490000 0 0.430000 0.550000 PCDHGA3 56112 broad.mit.edu 37 5 140725536 140725536 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr5:140725536G>A ENST00000253812.6 + 1 1936 c.1936G>A c.(1936-1938)Gtc>Atc p.V646I PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGTGGCCGTCCAGGACCA 0.711000 0 SO:0001583 missense ENST00000253812.6 0 1 hg19 CCDS47290.1 . . . . . . . . . . . 19.310000 3.802551 0.706820 . . ENSG00000254245 ENST00000253812 T 0.61510 0.1 5.120000 5.120000 0.697940 Cadherin (4);Cadherin-like (1); 0.000000 0.30329 U 0.009862 T 0.69566 0.3125 M 0.85462 2.755 0.306170 N 0.758850 D;P 0.53619 0.961;0.861 P;P 0.51324 0.666;0.458 T 0.75789 -0.3194 10 0.72032 D 0.01 . 12.057700 0.535440 0.0807:0.0:0.9193:0.0 . 646;646 Q9Y5H0-2;Q9Y5H0 .;PCDG3_HUMAN I 646 ENSP00000253812:V646I ENSP00000253812:V646I V + 1 0 PCDHGA3 140705720 1 0.714170 9.780000e-01 0.431390 9.980000e-01 0.957120 5.628000 0.677910 2.566000 0.865660 0.558000 0.716140 GTC TCGA-HV-AA8X-01A-11D-A397-08 PCDHGA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377017.1 0 0 0 19 331 0 73 0 0 0 0 73 2 0 0 0 0 0 2 1 0.524334 7 115 1 87 7 0 0 0 0 0 2 -19.982850 1 0 119154 22 35 1 0 0 0 2.049633 0 0.630000 1.930000 0.630000 0.170000 1.000000e-01 0.260000 0.180000 0.180057 0.170000 0 0.130000 0.220000 ADAMTS16 170690 broad.mit.edu 37 5 5303758 5303758 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr5:5303758C>T ENST00000274181.7 + 20 3203 c.3065C>T c.(3064-3066)gCg>gTg p.A1022V NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 107 TCGGCCAGAGCGCAGCTGCTG 0.627000 0 SO:0001583 missense ENST00000274181.7 0 1 hg19 CCDS43299.1 . . . . . . . . . . C 11.240000 1.580800 0.281800 . . ENSG00000145536 ENST00000274181 T 0.55234 0.53 4.790000 4.790000 0.613990 . 0.128592 0.52532 D 0.000076 T 0.43211 0.1237 L 0.33753 1.03 0.321020 N 0.590414 B;B 0.25719 0.132;0.101 B;B 0.23716 0.048;0.03 T 0.51671 -0.8676 10 0.36615 T 0.2 . 15.706800 0.775880 0.0:1.0:0.0:0.0 . 1022;1022 Q8TE57;Q8TE57-2 ATS16_HUMAN;. V 1022 ENSP00000274181:A1022V ENSP00000274181:A1022V A + 2 0 ADAMTS16 5356758 6.300000e-01 0.271550 4.000000e-02 0.184470 2.600000e-02 0.113680 3.024000 0.496740 2.359000 0.800040 0.650000 0.862430 GCG TCGA-HV-AA8X-01A-11D-A397-08 ADAMTS16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365657.1 0 0 0 5 166 0 34 0 0 0 1 0 34 2 0 0 0 0 0 2 1 0.934529 5 162 0 34 2 0 0 0 0 0 2 -3.703256 1 1 121168 3 34 1 1 2 3 2.058374 0 0.630000 1.930000 0.631162 0.090000 3.000000e-02 0.210000 0.100000 0.110077 0.090000 0 0.060000 0.150000 CCNO 10309 broad.mit.edu 37 5 54527370 54527370 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr5:54527370G>A ENST00000282572.4 - 3 1042 c.886C>T c.(886-888)Cgg>Tgg p.R296W RP11-506H20.1_ENST00000506435.1_RNA NM_021147.3 NP_066970.3 P22674 CCNO_HUMAN cyclin O 5 Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183) LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161) CGCGAGACCCGCAGCATGCGG 0.667000 0 SO:0001583 missense ENST00000282572.4 1 1 hg19 CCDS34157.1 . . . . . . . . . . G 14.460000 2.540955 0.452800 . . ENSG00000152669 ENST00000282572 T 0.44881 0.91 5.610000 -1.390000 0.089970 Cyclin, C-terminal (1);Cyclin-like (3); 1.557100 0.03904 N 0.280760 T 0.30823 0.0777 N 0.14661 0.345 0.093100 N 1.000000 D 0.58620 0.983 P 0.47376 0.545 T 0.28004 -1.0057 10 0.72032 D 0.01 . 5.156300 0.150360 0.0643:0.1857:0.3444:0.4056 . 296 P22674 CCNO_HUMAN W 296 ENSP00000282572:R296W ENSP00000282572:R296W R - 1 2 CCNO 54563127 3.000000e-02 0.194360 6.000000e-03 0.133840 4.300000e-01 0.316550 0.723000 0.259390 0.006000 0.147340 -0.500000 0.045770 CGG TCGA-HV-AA8X-01A-11D-A397-08 CCNO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369707.1 1 0 1 47 128 0 31 1 9.999363e-01 20 24 0 31 2 0 0 0 0 0 2 1 1.000000 47 124 0 31 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.058374 0 0.630000 1.930000 0.631162 0.850000 6.500000e-01 1.000000 1.000000 0.855491 0.850000 1 0.750000 0.970000 ZFYVE16 9765 broad.mit.edu 37 5 79745505 79745505 + Missense_Mutation SNP C C G TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr5:79745505C>G ENST00000338008.5 + 8 3379 c.3199C>G c.(3199-3201)Cta>Gta p.L1067V ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) AAATGCTAATCTACTCGTGAA 0.323000 Melanoma(150;1452 1854 16018 17851 37292) 0 SO:0001583 missense ENST00000338008.5 1 1 hg19 CCDS4050.1 . . . . . . . . . . C 17.290000 3.352893 0.612930 . . ENSG00000039319 ENST00000338008;ENST00000510158;ENST00000505560 T;T;T 0.66280 -0.2;-0.2;-0.2 5.910000 5.910000 0.952730 . 0.000000 0.49305 D 0.000142 T 0.75057 0.3798 M 0.71036 2.16 0.496870 D 0.999811 D 0.65815 0.995 D 0.64144 0.922 T 0.77099 -0.2713 10 0.87932 D 0 -8.6405 11.599100 0.509930 0.0:0.8886:0.0:0.1114 . 1067 Q7Z3T8 ZFY16_HUMAN V 1067 ENSP00000337159:L1067V;ENSP00000423663:L1067V;ENSP00000426848:L1067V ENSP00000337159:L1067V L + 1 2 ZFYVE16 79781261 1 0.714170 9.910000e-01 0.477400 4.590000e-01 0.325280 3.339000 0.521350 2.804000 0.964690 0.650000 0.862430 CTA TCGA-HV-AA8X-01A-11D-A397-08 ZFYVE16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226982.2 1 0 1 113 314 0 72 1 8.936050e-01 7 6 0 72 2 0 0 0 0 0 2 1 1.000000 113 312 0 72 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.049633 0 0.630000 1.930000 0.630000 0.830000 7.000000e-01 0.970000 0.840000 0.842133 0.830000 0 0.760000 0.910000 NR2F1 7025 broad.mit.edu 37 5 92924048 92924048 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr5:92924048G>A ENST00000327111.3 + 2 2576 c.889G>A c.(889-891)Gac>Aac p.D297N NR2F1-AS1_ENST00000513055.1_RNA NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) GGCCTTCATGGACCACATCCG 0.657000 0 SO:0001583 missense ENST00000327111.3 1 1 hg19 CCDS4068.1 . . . . . . . . . . G 35.000000 5.521082 0.964160 . . ENSG00000175745 ENST00000327111 D 0.96967 -4.19 4.300000 4.300000 0.512180 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.170267 0.49305 D 0.000157 D 0.97486 0.9177 M 0.62723 1.935 0.807220 D 1.000000 D 0.89917 1.0 D 0.79784 0.993 D 0.98117 1.0423 10 0.62326 D 0.03 . 16.543000 0.844070 0.0:0.0:1.0:0.0 . 297 P10589 COT1_HUMAN N 297 ENSP00000325819:D297N ENSP00000325819:D297N D + 1 0 NR2F1 92949804 1 0.714170 1 0.803570 9.840000e-01 0.730920 9.535000 0.980640 2.205000 0.710480 0.313000 0.208870 GAC TCGA-HV-AA8X-01A-11D-A397-08 NR2F1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239293.2 1 0 1 48 253 0 56 0 9.794424e-01 0 35 0 56 2 0 0 0 0 0 2 1 1.000000 48 249 0 55 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.049633 0 0.630000 1.930000 0.630000 0.500000 3.800000e-01 0.640000 0.500000 0.512377 0.500000 0 0.430000 0.580000 BEND3 57673 broad.mit.edu 37 6 107391144 107391144 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr6:107391144C>T ENST00000369042.1 - 4 1441 c.1251G>A c.(1249-1251)cgG>cgA p.R417R BEND3_ENST00000429433.2_Silent_p.R417R Q5T5X7 BEND3_HUMAN BEN domain containing 3 30 CGGGGAAGAGCCGGTGGAGGA 0.632000 0 SO:0001819 synonymous_variant ENST00000369042.1 0 1 hg19 CCDS34507.1 TCGA-HV-AA8X-01A-11D-A397-08 BEND3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041686.1 0 0 0 4 169 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 0.888569 4 167 0 52 2 0 0 0 0 0 2 -5.850452 1 0 0 0 1 0 1 1 1.402712 1 0.630000 1.930000 0.459854 0.050000 1.000000e-02 0.120000 0.050000 0.061701 0.050000 0 0.030000 0.090000 TMEM200A 114801 broad.mit.edu 37 6 130761706 130761706 + Missense_Mutation SNP G G T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G T G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr6:130761706G>T ENST00000296978.3 + 3 1010 c.139G>T c.(139-141)Gat>Tat p.D47Y TMEM200A_ENST00000392429.1_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y NM_001258276.1|NM_001258277.1|NM_001258278.1 NP_001245205.1|NP_001245206.1|NP_001245207.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 52 GCCCCGGGCAGATGTTGTGGT 0.507000 0 SO:0001583 missense ENST00000296978.3 1 1 hg19 CCDS5140.1 . . . . . . . . . . G 20.100000 3.935617 0.734420 . . ENSG00000164484 ENST00000296978;ENST00000545622;ENST00000392429 . . . 5.600000 5.600000 0.851300 . 0.000000 0.85682 D 0.000000 T 0.75620 0.3874 M 0.65498 2.005 0.807220 D 1.000000 D 0.89917 1.0 D 0.91635 0.999 T 0.77446 -0.2585 9 0.87932 D 0 . 19.608800 0.955940 0.0:0.0:1.0:0.0 . 47 Q86VY9 T200A_HUMAN Y 47 . ENSP00000296978:D47Y D + 1 0 TMEM200A 130803399 1 0.714170 6.570000e-01 0.296510 9.080000e-01 0.536900 9.668000 0.986190 2.623000 0.888460 0.650000 0.862430 GAT TCGA-HV-AA8X-01A-11D-A397-08 TMEM200A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042201.1 1 0 1 155 160 0 76 0 9.986552e-01 0 14 0 76 2 0 0 0 0 0 2 1 1.000000 151 157 0 75 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.402712 1 0.630000 1.930000 0.459854 0.970000 9.000000e-01 1.000000 0.990000 0.972677 0.970000 1 0.940000 1.000000 VPS52 6293 broad.mit.edu 37 6 33234430 33234430 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr6:33234430G>A ENST00000445902.2 - 12 1403 c.1185C>T c.(1183-1185)cgC>cgT p.R395R VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000482399.1_3'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 28 AAAGGTATTCGCGGCAGGAAT 0.512000 0 SO:0001819 synonymous_variant ENST00000445902.2 1 1 hg19 CCDS4770.2 TCGA-HV-AA8X-01A-11D-A397-08 VPS52-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076598.2 0 0 0 8 254 0 52 1 8.124794e-01 6 94 0 52 2 0 0 0 0 0 2 1 0.988467 8 247 0 50 2 0 0 0 0 0 2 -3.482629 1 1 118000 3 32 1 0 0 0 2.008919 0 0.630000 1.930000 0.625279 0.090000 4.000000e-02 0.180000 0.100000 0.106619 0.090000 0 0.060000 0.140000 UBR2 23304 broad.mit.edu 37 6 42571440 42571440 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr6:42571440G>A ENST00000372899.1 + 5 904 c.646G>A c.(646-648)Gca>Aca p.A216T UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 p.A216T(1) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TGAATTGCCAGCAGATTTAGA 0.313000 1 Substitution - Missense(1) SO:0001583 missense ENST00000372899.1 1 1 hg19 CCDS4870.1 . . . . . . . . . . G 12.410000 1.928522 0.340020 . . ENSG00000024048 ENST00000372903;ENST00000372899;ENST00000372901 T;T;T 0.73469 -0.75;0.21;0.21 5.580000 1.670000 0.240750 . 0.829390 0.10744 N 0.639102 T 0.30166 0.0756 N 0.08118 0 0.807220 D 1.000000 B;B 0.15473 0.004;0.013 B;B 0.25506 0.007;0.061 T 0.25187 -1.0139 10 0.12430 T 0.62 -7.2156 6.146600 0.202890 0.0821:0.3568:0.4611:0.1 . 216;216 Q8IWV8;Q8IWV8-2 UBR2_HUMAN;. T 216 ENSP00000361994:A216T;ENSP00000361990:A216T;ENSP00000361992:A216T ENSP00000361990:A216T A + 1 0 UBR2 42679418 9.960000e-01 0.388240 9.980000e-01 0.565050 9.880000e-01 0.763860 0.427000 0.213790 0.728000 0.323820 0.650000 0.862430 GCA TCGA-HV-AA8X-01A-11D-A397-08 UBR2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040558.2 1 0 1 110 259 0 76 1 9.096810e-01 7 5 0 76 2 0 0 0 0 0 2 1 1.000000 110 257 0 76 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.008919 0 0.630000 1.930000 0.625279 0.920000 7.800000e-01 1.000000 1.000000 0.927897 0.920000 1 0.850000 1.000000 MEP1A 4224 broad.mit.edu 37 6 46761185 46761185 + Missense_Mutation SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr6:46761185C>T ENST00000230588.4 + 1 59 c.50C>T c.(49-51)gCc>gTc p.A17V NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) p.A17V(1) 42 Lung(136;0.192) TTGCTTTTTGCCCACATAGCA 0.348000 1 Substitution - Missense(1) SO:0001583 missense ENST00000230588.4 0 1 hg19 CCDS4918.1 . . . . . . . . . . C 3.305000 -0.142020 0.066690 . . ENSG00000112818 ENST00000230588 T 0.24151 1.87 5.210000 -0.002690 0.140280 . 0.705821 0.14141 N 0.338738 T 0.04272 0.0118 N 0.25890 0.77 0.093100 N 0.999995 B;B 0.12013 0.004;0.005 B;B 0.10450 0.005;0.002 T 0.45673 -0.9245 10 0.11794 T 0.64 -3.8338 7.580800 0.279630 0.0:0.4834:0.0:0.5166 . 17;17 B7ZL91;Q16819 .;MEP1A_HUMAN V 17 ENSP00000230588:A17V ENSP00000230588:A17V A + 2 0 MEP1A 46869144 4.000000e-03 0.155600 7.830000e-01 0.318260 1.350000e-01 0.209900 -0.290000 0.083540 -0.016000 0.141270 0.655000 0.942530 GCC TCGA-HV-AA8X-01A-11D-A397-08 MEP1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040803.1 0 0 0 5 531 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 0.936260 5 526 0 101 2 0 0 0 0 0 2 -1.636543 0 1 0 0 1 0 0 0 2.008919 0 0.630000 1.930000 0.625279 0.020000 0 0.070000 0.030000 0.034290 0.020000 0 0.010000 0.050000 TSPAN12 23554 broad.mit.edu 37 7 120478922 120478922 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr7:120478922G>A ENST00000222747.3 - 4 801 c.194C>T c.(193-195)cCg>cTg p.P65L TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 p.P65Q(1) 10 all_neural(327;0.117) AATCATGACCGGATGAACCAC 0.373000 1 Substitution - Missense(1) SO:0001583 missense ENST00000222747.3 0 1 hg19 CCDS5777.1 . . . . . . . . . . G 21.300000 4.127309 0.775490 . . ENSG00000106025 ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985 T;T;T;T;T;T 0.75704 -0.96;-0.96;-0.96;-0.96;-0.96;-0.96 5.990000 5.990000 0.973160 . 0.052782 0.85682 D 0.000000 T 0.70500 0.3231 L 0.45581 1.43 0.807220 D 1.000000 B 0.32829 0.386 B 0.32465 0.146 T 0.65047 -0.6263 10 0.21540 T 0.41 -14.5881 20.537100 0.992320 0.0:0.0:1.0:0.0 . 65 O95859 TSN12_HUMAN L 65 ENSP00000222747:P65L;ENSP00000397699:P65L;ENSP00000411158:P65L;ENSP00000399059:P65L;ENSP00000404942:P65L;ENSP00000388819:P65L ENSP00000222747:P65L P - 2 0 TSPAN12 120266158 1 0.714170 1 0.803570 9.970000e-01 0.918780 8.398000 0.901950 2.857000 0.981240 0.650000 0.862430 CCG TCGA-HV-AA8X-01A-11D-A397-08 TSPAN12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346951.1 0 0 0 6 541 0 89 0 3.449631e-02 0 22 0 89 2 0 0 0 0 0 2 1 0.964745 6 539 0 88 2 0 0 0 0 0 2 -1.800648 0 1 0 0 1 1 2 3 2.053747 0 0.630000 1.930000 0.631162 0.030000 0 0.080000 0.040000 0.040245 0.030000 0 0.010000 0.060000 ASB15 142685 broad.mit.edu 37 7 123269120 123269120 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr7:123269120G>A ENST00000451558.1 + 12 1593 c.1072G>A c.(1072-1074)Gtt>Att p.V358I ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I|ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 p.V358I(1) 12 GTATTTTGGCGTTTCTAATAA 0.458000 1 Substitution - Missense(1) SO:0001583 missense ENST00000451558.1 1 1 hg19 CCDS34742.1 . . . . . . . . . . g 24.400000 4.523476 0.856000 2.27E-4 0.0 ENSG00000146809 ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699 T;T;T;T;T 0.64438 -0.1;-0.1;-0.1;-0.1;-0.1 6.170000 5.300000 0.749950 Ankyrin repeat-containing domain (4); 0.082444 0.50627 N 0.000109 T 0.73001 0.3531 L 0.45137 1.4 0.584320 D 0.999998 D 0.89917 1.0 D 0.73380 0.98 T 0.75938 -0.3141 10 0.72032 D 0.01 . 15.858500 0.790050 0.0644:0.0:0.9356:0.0 . 358 Q8WXK1 ASB15_HUMAN I 358;358;358;358;147;358 ENSP00000397655:V358I;ENSP00000390963:V358I;ENSP00000416433:V358I;ENSP00000438643:V358I;ENSP00000275699:V358I ENSP00000275699:V358I V + 1 0 ASB15 123056356 1 0.714170 9.500000e-01 0.388490 8.820000e-01 0.509910 7.633000 0.832600 1.644000 0.506030 -0.119000 0.150520 GTT TCGA-HV-AA8X-01A-11D-A397-08 ASB15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347493.1 1 0 1 95 250 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 1.000000 94 249 0 63 2 0 0 0 0 0 2 -6.701459 1 1 121412 4 40 1 1 2 3 2.053747 0 0.630000 1.930000 0.631162 0.870000 7.200000e-01 1.000000 1.000000 0.877417 0.870000 1 0.790000 0.960000 SSPO 23145 broad.mit.edu 37 7 149516508 149516508 + RNA SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr7:149516508C>T ENST00000378016.2 + 0 11911 A2VEC9 SSPO_HUMAN SCO-spondin Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCGCCGCCTGCGGGCATACCG 0.706000 0 ENST00000378016.2 0 1 hg19 TCGA-HV-AA8X-01A-11D-A397-08 SSPO-202 KNOWN basic processed_transcript processed_transcript 0 0 0 19 111 0 30 0 0 0 0 30 2 0 0 0 0 0 2 1 0.999991 19 105 0 29 2 0 0 0 0 0 2 -4.090216 1 1 120318 57 45 1 1 2 3 2.083494 0 0.630000 1.930000 0.632316 0.470000 2.900000e-01 0.720000 0.460000 0.486957 0.470000 0 0.370000 0.580000 HOXA5 3202 broad.mit.edu 37 7 27182747 27182747 + Silent SNP C C T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr7:27182747C>T ENST00000222726.3 - 1 540 c.480G>A c.(478-480)gcG>gcA p.A160A HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 p.A160A(2) 16 TCTGCGCACTCGCCTGCTCGC 0.692000 Colon(119;75 2200 7557 42868) 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000222726.3 1 1 hg19 CCDS5406.1 TCGA-HV-AA8X-01A-11D-A397-08 HOXA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358705.1 1 0 0 188 339 0 117 0 2.921013e-01 0 3 0 117 2 0 0 0 0 0 2 1 1.000000 184 328 0 111 2 0 0 0 0 0 2 -19.540590 1 1 120976 1 27 1 1 2 3 2.053747 0 0.630000 1.930000 0.631162 0.990000 9.900000e-01 1.000000 1.000000 0.999564 0.990000 1 0.990000 1.000000 MAPK15 225689 broad.mit.edu 37 8 144804265 144804265 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chr8:144804265G>A ENST00000338033.4 + 14 1598 c.1479G>A c.(1477-1479)ccG>ccA p.P493P NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGCTTCCTCCGGAGGCCCGGC 0.652000 0 SO:0001819 synonymous_variant ENST00000338033.4 1 1 hg19 CCDS6409.2 TCGA-HV-AA8X-01A-11D-A397-08 MAPK15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000300348.1 1 0 0 144 300 0 89 1 1 25 30 0 89 2 0 0 0 0 0 2 1 1.000000 139 298 0 86 2 0 0 0 0 0 2 -12.365830 1 1 120794 11 45 1 1 2 3 2.057093 0 0.630000 1.930000 0.631162 0.990000 8.900000e-01 1.000000 1.000000 0.985667 0.990000 1 0.950000 1.000000 DCAF12L2 340578 broad.mit.edu 37 X 125299404 125299404 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chrX:125299404G>A ENST00000360028.2 - 1 530 c.504C>T c.(502-504)ggC>ggT p.G168G DCAF12L2_ENST00000538699.1_Silent_p.G168G Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 64 TGGGGTTTTCGCCGCCGGTGG 0.672000 0 SO:0001819 synonymous_variant ENST00000360028.2 1 1 hg19 CCDS43991.1 TCGA-HV-AA8X-01A-11D-A397-08 DCAF12L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058181.1 1 0 1 82 226 0 58 0 0 0 0 58 2 0 0 0 0 0 2 1 1.000000 77 219 0 57 2 0 0 0 0 0 2 -3.222832 1 1 121400 47 49 1 0 1 1 0.630000 1.930000 0.630000 0.840000 6.900000e-01 1.000000 0.840000 0.847277 0.840000 0 0.760000 0.930000 DCAF12L1 139170 broad.mit.edu 37 X 125686253 125686253 + Silent SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chrX:125686253G>A ENST00000371126.1 - 1 581 c.339C>T c.(337-339)tgC>tgT p.C113C NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 68 ACTTGGTGCCGCACACCACCT 0.637000 0 SO:0001819 synonymous_variant ENST00000371126.1 0 1 hg19 CCDS14610.1 TCGA-HV-AA8X-01A-11D-A397-08 DCAF12L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058186.1 0 0 0 5 291 0 61 0 0 0 0 61 2 0 0 0 0 0 2 1 0.937504 5 290 0 60 2 0 0 0 0 0 2 -2.516897 1 1 0 0 1 0 1 1 0.630000 1.930000 0.630000 0.050000 1.000000e-02 0.120000 0.060000 0.063747 0.050000 0 0.030000 0.090000 GDI1 2664 broad.mit.edu 37 X 153665646 153665646 + Splice_Site SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chrX:153665646G>A ENST00000447750.2 + 1 380 c.e1+1 NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGTCTCACCGTAAGTGCGGC 0.697000 0 SO:0001630 splice_region_variant ENST00000447750.2 0 1 hg19 CCDS35452.1 . . . . . . . . . . G 14.220000 2.469539 0.438390 . . ENSG00000203879 ENST00000447750;ENST00000369741 . . . 3.710000 3.710000 0.425840 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 12.108300 0.538250 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . GDI1 153318840 1 0.714170 9.820000e-01 0.441460 2.360000e-01 0.253710 8.579000 0.907810 1.690000 0.510890 0.284000 0.194320 . TCGA-HV-AA8X-01A-11D-A397-08 GDI1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000081649.2 0 0 0 4 149 0 28 0 0 0 0 28 2 0 0 0 0 0 2 1 0.888297 2 149 0 28 2 0 0 0 0 0 2 -6.268873 1 0 0 0 1 0 1 1 0.630000 1.930000 0.630000 0.090000 2.000000e-02 0.200000 0.080000 0.101985 0.090000 0 0.050000 0.140000 BRWD3 254065 broad.mit.edu 37 X 79985487 79985487 + Missense_Mutation SNP G G A TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7182fcdb-756e-4594-b1db-a47c8efe035e 37f4dcba-087f-4744-994d-8921693c6c9e g.chrX:79985487G>A ENST00000373275.4 - 13 1376 c.1160C>T c.(1159-1161)aCg>aTg p.T387M NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 87 AATTCTTGCCGTTCCATCTCG 0.299000 0 SO:0001583 missense ENST00000373275.4 0 1 hg19 CCDS14447.1 . . . . . . . . . . G 22.000000 4.237206 0.798000 . . ENSG00000165288 ENST00000373275 T 0.69561 -0.41 4.370000 4.370000 0.524810 WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 D 0.82655 0.5084 M 0.83953 2.67 0.584320 D 0.999999 D 0.89917 1.0 D 0.87578 0.998 D 0.85220 0.1026 9 . . . -2.364 16.382600 0.834730 0.0:0.0:1.0:0.0 . 387 Q6RI45 BRWD3_HUMAN M 387 ENSP00000362372:T387M . T - 2 0 BRWD3 79872143 1 0.714170 1 0.803570 9.130000e-01 0.542940 7.207000 0.778990 2.035000 0.601310 0.513000 0.501650 ACG TCGA-HV-AA8X-01A-11D-A397-08 BRWD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057344.1 0 0 0 5 174 0 29 0 1.274968e-03 0 2 0 29 2 0 0 0 0 0 2 1 0.937510 5 173 0 29 2 0 0 0 0 0 2 -2.940823 1 1 0 0 1 0 1 1 0.630000 1.930000 0.630000 0.090000 3.000000e-02 0.190000 0.090000 0.104876 0.090000 0 0.050000 0.140000