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 SFXN3 81855 broad.mit.edu 37 10 102795364 102795364 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr10:102795364G>A ENST00000224807.5 + 4 740 c.284G>A c.(283-285)cGc>cAc p.R95H SFXN3_ENST00000393459.1_Missense_Mutation_p.R91H NM_030971.3 NP_112233.2 Q9BWM7 SFXN3_HUMAN sideroflexin 3 p.R95H(1) 9 Colorectal(252;0.234) CTGATTGGCCGCATGTCAGCC 0.587000 1 Substitution - Missense(1) SO:0001583 missense ENST00000224807.5 0 1 hg19 CCDS7508.2 . . . . . . . . . . G 31 5.093229 0.94149 . . ENSG00000107819 ENST00000393459;ENST00000224807 T;T 0.57595 0.39;0.39 5.11 4.19 0.49359 . 0.103262 0.64402 D 0.000005 T 0.80237 0.4586 H 0.96080 3.765 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.85130 0.997;0.995;0.995 D 0.86037 0.1517 10 0.87932 D 0 -15.974 14.1571 0.65424 0.0737:0.0:0.9262:0.0 . 95;95;95 B4DRS6;A6NCZ6;Q9BWM7 .;.;SFXN3_HUMAN H 91;95 ENSP00000377103:R91H;ENSP00000224807:R95H ENSP00000224807:R95H R + 2 0 SFXN3 102785354 1.000000 0.71417 0.999000 0.59377 0.998000 0.95712 7.802000 0.85969 2.652000 0.90054 0.561000 0.74099 CGC TCGA-3A-A9IH-01A-12D-A397-08 SFXN3-201 KNOWN basic|CCDS protein_coding protein_coding 0 0 0 4 176 0 45 0 9.298228e-01 0 217 0 45 2 0 0 0 0 0 2 1 0.887304 4 173 0 45 2 0 0 0 0 0 2 -2.814175 1 1 121412 2 30 1 1 2 3 2.133133 0 0.510000 1.830000 0.514948 0.090000 2.000000e-02 1.000000 0.090000 0.133924 0.090000 0 5.000000e-02 1.600000e-01 LRRC27 80313 broad.mit.edu 37 10 134155718 134155718 + Splice_Site SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr10:134155718C>T ENST00000368614.3 + 4 448 c.343C>T c.(343-345)Cat>Tat p.H115Y LRRC27_ENST00000368610.3_Splice_Site_p.H53Y|LRRC27_ENST00000356571.4_Intron|LRRC27_ENST00000432555.2_5'UTR|LRRC27_ENST00000368615.3_Splice_Site_p.H115Y|LRRC27_ENST00000368612.1_Splice_Site_p.H53Y|LRRC27_ENST00000344079.5_Splice_Site_p.H115Y|LRRC27_ENST00000392638.2_Splice_Site_p.H115Y|LRRC27_ENST00000368613.4_Splice_Site_p.H115Y NM_030626.2 NP_085129.1 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) GCTTTAAAGGCATTTGAAAAC 0.264000 0 SO:0001630 splice_region_variant ENST00000368614.3 0 0 hg19 CCDS31316.1 . . . . . . . . . . C 12.14 1.848731 0.32699 . . ENSG00000148814 ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610 T;T;T;T;T;T;T 0.58506 0.33;0.33;0.33;0.33;0.33;0.33;0.33 4.76 2.75 0.32379 . 0.153086 0.30999 N 0.008452 T 0.41050 0.1142 L 0.39326 1.205 0.80722 D 1 B;B;B;B 0.32350 0.113;0.166;0.263;0.366 B;B;B;B 0.27796 0.031;0.063;0.052;0.083 T 0.32025 -0.9922 10 0.44086 T 0.13 -13.2043 5.8781 0.18840 0.0:0.7451:0.0:0.2549 . 115;53;115;115 Q9C0I9-4;Q9C0I9-2;Q9C0I9;Q9C0I9-3 .;.;LRC27_HUMAN;. Y 115;115;115;115;115;53;53 ENSP00000357604:H115Y;ENSP00000376413:H115Y;ENSP00000342641:H115Y;ENSP00000357603:H115Y;ENSP00000357602:H115Y;ENSP00000357601:H53Y;ENSP00000357599:H53Y ENSP00000342641:H115Y H + 1 0 LRRC27 134005708 1.000000 0.71417 1.000000 0.80357 0.958000 0.62258 0.824000 0.27379 1.177000 0.42855 0.655000 0.94253 CAT TCGA-3A-A9IH-01A-12D-A397-08 LRRC27-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000051058.2 1 0 1 22 66 0 9 0 5.618123e-01 1 6 0 9 2 0 0 0 0 0 2 1 1.000000 22 65 0 9 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.109540 0 0.510000 1.830000 0.512486 0.980000 6.600000e-01 1.000000 1.000000 0.927726 0.980000 1 8.100000e-01 1 ABCC8 6833 broad.mit.edu 37 11 17415843 17415843 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:17415843G>A ENST00000389817.3 - 37 4583 c.4515C>T c.(4513-4515)gaC>gaT p.D1505D ABCC8_ENST00000302539.4_Silent_p.D1506D Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 67 Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124) CCGTGGCCTCGTCCATGATGA 0.577000 0 SO:0001819 synonymous_variant ENST00000389817.3 1 1 hg19 CCDS31437.1 TCGA-3A-A9IH-01A-12D-A397-08 ABCC8-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000389093.1 1 0 1 99 443 0 127 0 1 0 147 0 127 2 0 0 0 0 0 2 1 1.000000 99 441 0 127 2 0 0 0 0 0 2 -20.000000 1 1 121412 5 41 1 1 2 3 2.127426 0 0.510000 1.830000 0.514948 0.720000 5.900000e-01 1.000000 0.720000 0.734824 0.720000 0 6.500000e-01 8.000000e-01 OR51T1 401665 broad.mit.edu 37 11 4903766 4903766 + Missense_Mutation SNP G G A rs139706082 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:4903766G>A ENST00000322049.1 + 1 637 c.637G>A c.(637-639)Gta>Ata p.V213I MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.V240I|MMP26_ENST00000380390.1_Intron Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) TGGCACTGACGTATTGTTTAT 0.438000 0 SO:0001583 missense ENST00000322049.1 1 0 hg19 11 0.005036630036630037 11 0.022357723577235773 0 0.0 0 0.0 0 0.0 G 0.081 -1.183413 0.01620 0.006815 2.33E-4 ENSG00000176900 ENST00000380378;ENST00000322049 T;T 0.37752 1.18;1.18 4.99 2.58 0.30949 GPCR, rhodopsin-like superfamily (1); 0.230017 0.22233 N 0.062799 T 0.08846 0.0219 N 0.12831 0.26 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.15378 -1.0439 10 0.27785 T 0.31 . 6.7962 0.23727 0.0:0.08:0.2905:0.6295 . 213 Q8NGJ9 O51T1_HUMAN I 240;213 ENSP00000369738:V240I;ENSP00000322679:V213I ENSP00000322679:V213I V + 1 0 OR51T1 4860342 0.000000 0.05858 0.685000 0.30070 0.043000 0.13939 -0.071000 0.11505 0.363000 0.24346 -0.749000 0.03505 GTA TCGA-3A-A9IH-01A-12D-A397-08 OR51T1-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000142180.1 1 0 1 88 296 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 1.000000 88 291 0 49 2 0 0 0 0 0 2 -2.749776 1 1 121408 94 53 1 1 2 3 2.127426 0 0.510000 1.830000 0.514948 0.900000 7.400000e-01 1.000000 1.000000 0.907027 0.900000 1 8.200000e-01 1 OR52A4 390053 broad.mit.edu 37 11 5142557 5142557 + RNA SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:5142557C>A ENST00000498233.1 - 0 841 A6NMU1 O52A4_HUMAN olfactory receptor, family 52, subfamily A, member 4 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) TATCAAGCATCTTGGGCACAA 0.438000 0 ENST00000498233.1 1 1 hg19 . . . . . . . . . . C 13.16 2.154681 0.38021 . . ENSG00000248953 ENST00000380369 . . . 4.18 1.36 0.22044 GPCR, rhodopsin-like superfamily (1); . . . . T 0.32133 0.0819 . . . 0.23056 N 0.998369 B 0.34290 0.447 B 0.38921 0.285 T 0.38714 -0.9648 6 0.51188 T 0.08 . 3.4013 0.07324 0.0:0.378:0.2029:0.4191 . 84 A6NMU1 O52A4_HUMAN N 84 . ENSP00000369727:K84N K - 3 2 OR52A4 5099133 0.000000 0.05858 0.999000 0.59377 0.987000 0.75469 -3.743000 0.00378 0.647000 0.30713 0.650000 0.86243 AAG TCGA-3A-A9IH-01A-12D-A397-08 OR52A4-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000268565.1 0 0 0 70 196 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 1.000000 69 196 0 27 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.127426 0 0.510000 1.830000 0.514948 0.990000 8.400000e-01 1.000000 1.000000 0.977580 0.990000 1 9.300000e-01 1 XRRA1 143570 broad.mit.edu 37 11 74559225 74559225 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:74559225G>A ENST00000340360.6 - 15 1970 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.R460C|XRRA1_ENST00000321448.8_Missense_Mutation_p.R272C NM_182969.2 NP_892014.1 X-ray radiation resistance associated 1 20 GGGCTGAGGCGGACAGTTGTG 0.592000 0 SO:0001583 missense ENST00000340360.6 1 1 hg19 CCDS44680.1 . . . . . . . . . . G 18.22 3.575885 0.65878 . . ENSG00000166435 ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087 T;T;T 0.52526 0.66;1.41;0.67 4.29 4.29 0.51040 . 1.095810 0.06941 N 0.812752 T 0.58779 0.2146 L 0.51422 1.61 0.09310 N 0.999993 D;D;D;D;D;D;D 0.71674 0.968;0.998;0.995;0.987;0.995;0.994;0.995 B;P;P;P;P;P;P 0.56700 0.232;0.804;0.629;0.534;0.528;0.502;0.528 T 0.49184 -0.8966 10 0.42905 T 0.14 0.0617 12.5443 0.56190 0.0:0.0:1.0:0.0 . 547;149;103;460;491;157;533 Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3 XRRA1_HUMAN;.;.;.;.;.;. C 547;272;533;491;460 ENSP00000339918:R547C;ENSP00000319303:R272C;ENSP00000435838:R460C ENSP00000319303:R272C R - 1 0 XRRA1 74236873 0.009000 0.17119 0.162000 0.22713 0.094000 0.18550 1.762000 0.38451 2.678000 0.91216 0.591000 0.81541 CGC TCGA-3A-A9IH-01A-12D-A397-08 XRRA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384715.1 1 0 1 43 128 0 26 1 9.886444e-01 12 12 0 26 2 0 0 0 0 0 2 1 1.000000 43 126 0 26 2 0 0 0 0 0 2 -4.671137 1 1 121190 4 37 1 1 2 3 2.127426 0 0.510000 1.830000 0.514948 0.990000 7.500000e-01 1.000000 1.000000 0.950526 0.990000 1 8.600000e-01 1 FAT3 120114 broad.mit.edu 37 11 92538476 92538476 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr11:92538476C>T ENST00000298047.6 + 10 9071 c.9054C>T c.(9052-9054)agC>agT p.S3018S FAT3_ENST00000525166.1_Silent_p.S2868S|FAT3_ENST00000409404.2_Silent_p.S3018S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGAAGTGAGCGTCAGTGATG 0.438000 TCGA Ovarian(4;0.039) 0 SO:0001819 synonymous_variant ENST00000298047.6 0 1 hg19 TCGA-3A-A9IH-01A-12D-A397-08 FAT3-201 KNOWN basic protein_coding protein_coding 1 0 0 10 101 0 21 0 0 0 0 21 2 0 0 0 0 0 2 1 0.997053 10 99 0 21 2 0 0 0 0 0 2 -5.763831 1 1 120870 1 31 1 1 2 3 2.127426 0 0.510000 1.830000 0.514948 0.370000 1.900000e-01 1.000000 0.350000 0.400173 0.370000 0 2.700000e-01 5.000000e-01 ABCC9 10060 broad.mit.edu 37 12 22063212 22063212 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:22063212G>A ENST00000261201.4 - 8 1198 c.1199C>T c.(1198-1200)aCg>aTg p.T400M ABCC9_ENST00000345162.2_Missense_Mutation_p.T400M|ABCC9_ENST00000261200.4_Missense_Mutation_p.T400M NM_005691.2 NP_005682.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 118 Adenosine triphosphate(DB00171)|Glyburide(DB01016) TAAGTTAGACGTAGAGAGCCT 0.348000 0 SO:0001583 missense ENST00000261201.4 1 1 hg19 CCDS8694.1 . . . . . . . . . . G 25.5 4.642321 0.87859 . . ENSG00000069431 ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162 D;D;D;D 0.87571 -2.27;-2.27;-2.27;-2.27 5.66 5.66 0.87406 ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1); 0.000000 0.85682 D 0.000000 D 0.93413 0.7899 M 0.76574 2.34 0.80722 D 1 D;D 0.89917 1.0;0.999 D;P 0.70016 0.967;0.897 D 0.93643 0.6966 10 0.87932 D 0 -17.543 19.7509 0.96268 0.0:0.0:1.0:0.0 . 400;400 O60706;O60706-2 ABCC9_HUMAN;. M 400;63;400;400 ENSP00000261200:T400M;ENSP00000440521:T63M;ENSP00000261201:T400M;ENSP00000261202:T400M ENSP00000261200:T400M T - 2 0 ABCC9 21954479 1.000000 0.71417 0.975000 0.42487 0.954000 0.61252 9.852000 0.99516 2.664000 0.90586 0.650000 0.86243 ACG TCGA-3A-A9IH-01A-12D-A397-08 ABCC9-002 KNOWN not_organism_supported|basic|CCDS protein_coding protein_coding OTTHUMT00000402230.1 1 0 1 106 266 0 63 0 0 0 1 0 63 2 0 0 0 0 0 2 1 1.000000 103 265 0 62 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.838630 1 0.510000 1.830000 0.416215 0.930000 7.800000e-01 1.000000 1.000000 0.928792 0.930000 1 8.500000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 C G C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:25398285C>G ENST00000256078.4 - 2 97 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 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 5144 Substitution - Missense(5142)|Insertion - In frame(2) GRCh37 CM076251 KRAS M rs121913530 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 28.6 4.930538 0.92389 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78246 -1.16;-1.16;-1.16;-1.16 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.84893 0.5573 M 0.84082 2.675 0.80722 D 1 P;P 0.43287 0.802;0.741 B;P 0.47941 0.36;0.562 D 0.86658 0.1902 10 0.66056 D 0.02 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN R 12 ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R ENSP00000256078:G12R G - 1 0 KRAS 25289552 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-3A-A9IH-01A-12D-A397-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 46 237 0 64 1 9.674765e-01 16 15 0 64 2 1 1 42 203 0 223 2 1 1.000000 44 236 0 64 2 1 1 2550 5470 5 8002 21 -19.999920 1 1 0 0 1 0.510000 1.830000 0 0 RACGAP1 29127 broad.mit.edu 37 12 50410450 50410450 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:50410450G>A ENST00000427314.2 - 4 272 c.49C>T c.(49-51)Cgc>Tgc p.R17C RACGAP1_ENST00000547905.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R17C|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R17C|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R17C|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R17C NM_013277.3 NP_037409.2 Rac GTPase activating protein 1 14 TCCACCCGGCGCACAAGCTGC 0.438000 0 SO:0001583 missense ENST00000427314.2 0 1 hg19 CCDS8795.1 . . . . . . . . . . G 21.1 4.099325 0.76983 . . ENSG00000161800 ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004 T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.70516 -0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49 5.7 4.81 0.61882 . 0.320727 0.37715 N 0.001971 T 0.76535 0.4001 M 0.64997 1.995 0.80722 D 1 D 0.76494 0.999 P 0.52957 0.714 T 0.79923 -0.1598 10 0.87932 D 0 -2.9543 14.6535 0.68814 0.0695:0.0:0.9304:0.0 . 17 Q9H0H5 RGAP1_HUMAN C 17;17;17;17;17;17;17;17;29;17;17;17;17;17;17;17 ENSP00000404190:R17C;ENSP00000309871:R17C;ENSP00000413241:R17C;ENSP00000404808:R17C;ENSP00000449374:R17C;ENSP00000449370:R17C;ENSP00000448697:R17C;ENSP00000449170:R17C;ENSP00000449620:R29C;ENSP00000449669:R17C;ENSP00000447393:R17C;ENSP00000447177:R17C;ENSP00000449186:R17C;ENSP00000448707:R17C;ENSP00000449959:R17C;ENSP00000448136:R17C ENSP00000309871:R17C R - 1 0 RACGAP1 48696717 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 6.287000 0.72671 1.411000 0.46957 0.650000 0.86243 CGC TCGA-3A-A9IH-01A-12D-A397-08 RACGAP1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405997.1 0 0 0 5 573 0 134 0 7.510071e-03 0 12 0 134 2 0 0 0 0 0 2 1 0.936640 5 569 0 130 2 0 0 0 0 0 2 -1.797173 0 1 0 0 1 0 1 1 1.805806 1 0.510000 1.830000 0.412646 0.020000 0 0.060000 0.030000 0.033684 0.020000 0 1.000000e-02 5.000000e-02 SRGAP1 57522 broad.mit.edu 37 12 64377799 64377799 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:64377799A>G ENST00000355086.3 + 2 664 c.140A>G c.(139-141)cAg>cGg p.Q47R SRGAP1_ENST00000357825.3_Missense_Mutation_p.Q47R|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Q7R NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) CAGCTTCTCCAGGATCTGCAA 0.433000 0 SO:0001583 missense ENST00000355086.3 1 1 hg19 CCDS8967.1 . . . . . . . . . . A 25.9 4.686291 0.88639 . . ENSG00000196935 ENST00000355086;ENST00000357825;ENST00000543397 T;T;T 0.42513 0.97;0.97;2.57 5.1 5.1 0.69264 Fps/Fes/Fer/CIP4 homology (3); 0.000000 0.33691 U 0.004654 T 0.55625 0.1932 M 0.69358 2.11 0.80722 D 1 P;B;B 0.38020 0.615;0.096;0.185 P;B;B 0.50270 0.636;0.106;0.14 T 0.54111 -0.8342 9 . . . . 15.199 0.73120 1.0:0.0:0.0:0.0 . 47;7;47 Q7Z6B7;G5EA48;Q7Z6B7-2 SRGP1_HUMAN;.;. R 47;47;7 ENSP00000347198:Q47R;ENSP00000350480:Q47R;ENSP00000437948:Q7R . Q + 2 0 SRGAP1 62664066 1.000000 0.71417 1.000000 0.80357 0.897000 0.52465 9.262000 0.95591 2.060000 0.61445 0.477000 0.44152 CAG TCGA-3A-A9IH-01A-12D-A397-08 SRGAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000400896.1 1 0 0 33 488 0 81 0 1.357240e-01 0 10 0 81 2 0 0 0 0 0 2 1 1.000000 33 486 0 81 2 0 0 0 0 0 2 -7.617048 1 1 0 0 1 1 2 3 2.456226 1 0.510000 1.830000 0.569306 0.300000 2.000000e-01 1.000000 0.280000 0.460742 0.300000 0 2.400000e-01 1 SYT1 6857 broad.mit.edu 37 12 79679566 79679566 + Splice_Site SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr12:79679566G>A ENST00000261205.4 + 5 823 c.e5-1 SYT1_ENST00000552744.1_Splice_Site|SYT1_ENST00000393240.3_Splice_Site|SYT1_ENST00000457153.2_Splice_Site NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 25 GTTTCTTTCAGTGCCACCGTG 0.368000 0 SO:0001630 splice_region_variant ENST00000261205.4 1 1 hg19 CCDS9017.1 . . . . . . . . . . G 29.3 4.994229 0.93167 . . ENSG00000067715 ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242 . . . 5.93 5.93 0.95920 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 20.3539 0.98825 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . SYT1 78203697 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 9.869000 0.99810 2.826000 0.97356 0.655000 0.94253 . TCGA-3A-A9IH-01A-12D-A397-08 SYT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000259415.1 1 0 1 45 245 0 49 0 0 0 0 49 2 0 0 0 0 0 2 1 1.000000 45 241 0 49 2 0 0 0 0 0 2 -19.998250 1 1 0 0 1 2 2 4 2.267788 1 0.510000 1.830000 0.549094 0.670000 5.000000e-01 1.000000 0.660000 0.713237 0.670000 0 5.800000e-01 8.500000e-01 TUBGCP3 10426 broad.mit.edu 37 13 113140311 113140311 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr13:113140311G>A ENST00000261965.3 - 22 2906 c.2720C>T c.(2719-2721)aCg>aTg p.T907M NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CGAGCTTCACGTGTGGGAGCT 0.597000 0 SO:0001583 missense ENST00000261965.3 1 1 hg19 CCDS9525.1 . . . . . . . . . . G 13.15 2.152609 0.38021 . . ENSG00000126216 ENST00000261965 T 0.24350 1.86 4.64 1.7 0.24286 . 0.391386 0.28618 N 0.014706 T 0.11324 0.0276 N 0.08118 0 0.80722 D 1 B;B 0.10296 0.003;0.001 B;B 0.04013 0.001;0.001 T 0.09465 -1.0673 10 0.41790 T 0.15 . 6.8525 0.24022 0.5149:0.0:0.4851:0.0 . 897;907 B4DYP7;Q96CW5 .;GCP3_HUMAN M 907 ENSP00000261965:T907M ENSP00000261965:T907M T - 2 0 TUBGCP3 112188312 1.000000 0.71417 0.566000 0.28421 0.740000 0.42216 3.101000 0.50283 0.420000 0.25954 0.655000 0.94253 ACG TCGA-3A-A9IH-01A-12D-A397-08 TUBGCP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045825.2 1 0 0 33 99 0 33 1 9.843918e-01 6 17 0 33 2 0 0 0 0 0 2 1 1.000000 33 91 0 44 2 0 0 0 0 0 2 -20.000000 1 1 120998 6 32 1 1 2 3 2.115587 0 0.510000 1.830000 0.512486 0.980000 7.100000e-01 1.000000 1.000000 0.938381 0.980000 1 8.400000e-01 1 FRY 10129 broad.mit.edu 37 13 32759255 32759255 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr13:32759255A>G ENST00000380250.3 + 26 3785 c.3289A>G c.(3289-3291)Atg>Gtg p.M1097V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 132 Lung SC(185;0.0271) TTTTAGTGCAATGGTGGCCAA 0.413000 0 SO:0001583 missense ENST00000380250.3 1 1 hg19 CCDS41875.1 . . . . . . . . . . A 15.18 2.755504 0.49362 . . ENSG00000073910 ENST00000380250 T 0.22134 1.97 5.37 5.37 0.77165 . 0.000000 0.85682 D 0.000000 T 0.17959 0.0431 L 0.36672 1.1 0.80722 D 1 B 0.29716 0.255 B 0.26969 0.075 T 0.04242 -1.0966 10 0.24483 T 0.36 . 15.6626 0.77199 1.0:0.0:0.0:0.0 . 1097 Q5TBA9 FRY_HUMAN V 1097 ENSP00000369600:M1097V ENSP00000369600:M1097V M + 1 0 FRY 31657255 1.000000 0.71417 0.991000 0.47740 0.993000 0.82548 7.191000 0.77763 2.161000 0.67846 0.528000 0.53228 ATG TCGA-3A-A9IH-01A-12D-A397-08 FRY-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044405.1 1 0 1 81 322 0 71 1 6.814830e-01 5 6 0 71 2 0 0 0 0 0 2 1 1.000000 81 320 0 69 2 0 0 0 0 0 2 -20.000000 1 1 120866 3 36 1 1 2 3 2.115587 0 0.510000 1.830000 0.512486 0.790000 6.400000e-01 0.970000 0.790000 0.797971 0.790000 0 7.100000e-01 8.800000e-01 DHRS4 10901 broad.mit.edu 37 14 24429144 24429144 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr14:24429144G>C ENST00000313250.5 + 3 543 c.340G>C c.(340-342)Gtc>Ctc p.V114L DHRS4_ENST00000397075.3_Missense_Mutation_p.V114L|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Intron|DHRS4_ENST00000382761.3_Missense_Mutation_p.V96L|DHRS4_ENST00000558263.1_Missense_Mutation_p.V114L|DHRS4_ENST00000421831.1_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Missense_Mutation_p.V114L|DHRS4_ENST00000308178.8_Intron NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 14 Vitamin A(DB00162) CGATATCCTAGTCTCCAATGC 0.522000 0 SO:0001583 missense ENST00000313250.5 1 1 hg19 CCDS9605.1 . . . . . . . . . . . 12.86 2.065559 0.36470 . . ENSG00000157326 ENST00000313250;ENST00000382761;ENST00000397075;ENST00000543741 T;T;D;T 0.90444 0.62;1.22;-2.67;1.22 3.1 1.21 0.21127 NAD(P)-binding domain (1); 0.130045 0.51477 D 0.000095 D 0.93595 0.7955 M 0.88979 2.995 0.45452 D 0.998421 P;P;P;P 0.41569 0.514;0.59;0.663;0.755 B;P;B;P 0.54544 0.329;0.51;0.346;0.755 D 0.91433 0.5167 10 0.66056 D 0.02 . 7.0353 0.24991 0.2376:0.0:0.7624:0.0 . 114;114;114;114 F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2 .;.;.;DHRS4_HUMAN L 114;96;114;114 ENSP00000326219:V114L;ENSP00000372209:V96L;ENSP00000380265:V114L;ENSP00000440508:V114L ENSP00000326219:V114L V + 1 0 DHRS4 23498984 1.000000 0.71417 0.999000 0.59377 0.737000 0.42083 3.267000 0.51577 0.166000 0.19597 0.555000 0.69702 GTC TCGA-3A-A9IH-01A-12D-A397-08 DHRS4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071857.3 1 0 0 62 1442 0 406 1 4.171046e-01 3 31 0 406 2 0 0 0 0 0 2 1 1.000000 56 1382 0 412 2 0 0 0 0 0 2 -5.131537 1 1 0 0 1 0 1 1 1.616651 1 0.510000 1.830000 0.344525 0.110000 8.000000e-02 0.150000 0.120000 0.122475 0.110000 0 1.000000e-01 1.400000e-01 GABRB3 2562 broad.mit.edu 37 15 26866539 26866539 + Missense_Mutation SNP T T A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:26866539T>A ENST00000311550.5 - 4 494 c.383A>T c.(382-384)aAg>aTg p.K128M GABRB3_ENST00000541819.2_Missense_Mutation_p.K184M|GABRB3_ENST00000299267.4_Missense_Mutation_p.K128M|GABRB3_ENST00000545868.1_Missense_Mutation_p.K43M|GABRB3_ENST00000400188.3_Missense_Mutation_p.K57M NM_000814.5|NM_001278631.1 NP_000805.1|NP_001265560.1 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) CACAAATGACTTTTTGTCATT 0.502000 0 SO:0001583 missense ENST00000311550.5 1 1 hg19 CCDS10019.1 . . . . . . . . . . T 31 5.063482 0.93898 . . ENSG00000166206 ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094 T;T;T;T;T;T 0.78816 -1.21;-1.21;-1.21;-1.21;-1.21;-1.21 5.77 5.77 0.91146 Neurotransmitter-gated ion-channel ligand-binding (3); 0.000000 0.85682 D 0.000000 D 0.88786 0.6531 M 0.85542 2.76 0.80722 D 1 P;D;D 0.71674 0.717;0.998;0.998 P;D;D 0.70016 0.454;0.917;0.967 D 0.90410 0.4409 10 0.72032 D 0.01 . 15.3309 0.74208 0.0:0.0:0.0:1.0 . 184;128;128 F5H7N0;P28472-2;P28472 .;.;GBRB3_HUMAN M 128;184;128;57;43;43 ENSP00000308725:K128M;ENSP00000442408:K184M;ENSP00000299267:K128M;ENSP00000383049:K57M;ENSP00000439169:K43M;ENSP00000452272:K43M ENSP00000299267:K128M K - 2 0 GABRB3 24417632 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.880000 0.87243 2.218000 0.71995 0.378000 0.23410 AAG TCGA-3A-A9IH-01A-12D-A397-08 GABRB3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251352.2 1 0 1 130 334 0 82 0 9.328887e-01 0 14 0 82 2 0 0 0 0 0 2 1 1.000000 130 330 0 80 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.109746 0 0.510000 1.830000 0.512486 0.990000 9.400000e-01 1.000000 1.000000 0.996472 0.990000 1 9.900000e-01 1 PPIP5K1 9677 broad.mit.edu 37 15 43851071 43851071 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:43851071G>C ENST00000396923.3 - 28 3428 c.3307C>G c.(3307-3309)Ctt>Gtt p.L1103V PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L1099V|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.L1103V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L1036V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L1078V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L1079V Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1 CGTAGGGAAAGGGCATTATGC 0.478000 0 SO:0001583 missense ENST00000396923.3 1 1 hg19 CCDS45252.1 . . . . . . . . . . G 22.4 4.284077 0.80803 . . ENSG00000168781 ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092 T;T;T;T;T;T;T;T 0.58060 0.56;0.36;2.25;0.36;0.56;0.56;0.52;2.25 6.06 6.06 0.98353 . 0.000000 0.85682 D 0.000000 T 0.74458 0.3719 M 0.76170 2.325 0.37898 D 0.930941 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.998;0.999;0.999 T 0.76410 -0.2969 10 0.59425 D 0.04 -13.5751 19.609 0.95594 0.0:0.0:1.0:0.0 . 1036;1103;1100;1078 Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3 .;VIP1_HUMAN;.;. V 1099;1078;1036;1078;1103;1103;1078;1103;1079;1036;999 ENSP00000371309:L1099V;ENSP00000353446:L1078V;ENSP00000353253:L1036V;ENSP00000334779:L1078V;ENSP00000380129:L1103V;ENSP00000400887:L1103V;ENSP00000371303:L1079V;ENSP00000308773:L1036V ENSP00000304750:L1103V L - 1 0 PPIP5K1 41638363 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.430000 0.97488 2.882000 0.98803 0.655000 0.94253 CTT TCGA-3A-A9IH-01A-12D-A397-08 PPIP5K1-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000132907.1 1 0 1 64 324 0 81 1 9.210175e-01 8 16 0 81 2 0 0 0 0 0 2 1 1.000000 64 321 0 81 2 0 0 0 0 0 2 -2.860975 1 1 0 0 1 0.510000 1.830000 0 0 ZNF280D 54816 broad.mit.edu 37 15 56958635 56958635 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:56958635T>C ENST00000267807.7 - 16 2168 c.1952A>G c.(1951-1953)tAc>tGc p.Y651C ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y638C|ZNF280D_ENST00000396245.1_Missense_Mutation_p.Y355C|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y638C NM_017661.2 NP_060131.2 Q6N043 Z280D_HUMAN zinc finger protein 280D 30 GCTAGTGTTGTATCTGCAAAA 0.358000 0 SO:0001583 missense ENST00000267807.7 1 1 hg19 CCDS32245.1 . . . . . . . . . . T 16.74 3.205782 0.58234 . . ENSG00000137871 ENST00000267807;ENST00000455329;ENST00000396245 T;T 0.16324 2.35;3.21 4.96 4.96 0.65561 Zinc finger, C2H2-like (1); 0.660622 0.11753 U 0.532867 T 0.41511 0.1162 M 0.76574 2.34 0.39244 D 0.963911 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.99 T 0.27971 -1.0058 10 0.87932 D 0 -20.1193 9.5114 0.39078 0.1573:0.0:0.0:0.8427 . 714;651 B4DHL1;Q6N043 .;Z280D_HUMAN C 651;638;355 ENSP00000267807:Y651C;ENSP00000379545:Y355C ENSP00000267807:Y651C Y - 2 0 ZNF280D 54745927 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 5.396000 0.66297 1.983000 0.57843 0.383000 0.25322 TAC TCGA-3A-A9IH-01A-12D-A397-08 ZNF280D-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000418891.2 1 0 1 64 323 0 51 1 7.967381e-01 4 13 0 51 2 0 0 0 0 0 2 1 1.000000 64 323 0 51 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.113356 0 0.510000 1.830000 0.512486 0.650000 5.100000e-01 0.830000 0.650000 0.660362 0.650000 0 5.700000e-01 7.300000e-01 HERC1 8925 broad.mit.edu 37 15 63908760 63908760 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:63908760C>A ENST00000443617.2 - 75 13897 c.13810G>T c.(13810-13812)Gtg>Ttg p.V4604L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 132 TGCTTCCACACCAGAGGGGCC 0.502000 0 SO:0001583 missense ENST00000443617.2 1 1 hg19 CCDS45277.1 . . . . . . . . . . C 31 5.104026 0.94245 . . ENSG00000103657 ENST00000443617 T 0.56776 0.44 5.04 5.04 0.67666 HECT (4); 0.000000 0.64402 D 0.000003 T 0.65228 0.2671 L 0.36672 1.1 0.80722 D 1 D 0.63046 0.992 D 0.77004 0.989 T 0.66392 -0.5935 10 0.52906 T 0.07 . 18.7804 0.91930 0.0:1.0:0.0:0.0 . 4604 Q15751 HERC1_HUMAN L 4604 ENSP00000390158:V4604L ENSP00000390158:V4604L V - 1 0 HERC1 61695813 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.776000 0.85560 2.491000 0.84063 0.555000 0.69702 GTG TCGA-3A-A9IH-01A-12D-A397-08 HERC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000418523.1 1 0 1 54 181 0 38 1 9.999894e-01 18 43 0 38 2 0 0 0 0 0 2 1 1.000000 53 180 0 38 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.113356 0 0.510000 1.830000 0.512486 0.900000 7.000000e-01 1.000000 1.000000 0.899006 0.900000 1 7.900000e-01 1 IDH2 3418 broad.mit.edu 37 15 90630770 90630770 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr15:90630770G>A ENST00000330062.3 - 6 829 c.716C>T c.(715-717)gCc>gTc p.A239V IDH2_ENST00000539790.1_Missense_Mutation_p.A109V|IDH2_ENST00000540499.2_Missense_Mutation_p.A187V|IDH2_ENST00000559482.1_Missense_Mutation_p.A130V NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) CTTCTGGATGGCATACTGGAA 0.562000 M GBM OREG0023466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Dom yes 15 15q26.1 3418 socitrate dehydrogenase 2 (NADP+), mitochondrial M 0 SO:0001583 missense ENST00000330062.3 0 1 hg19 CCDS10359.1 . . . . . . . . . . G 18.14 3.556943 0.65425 . . ENSG00000182054 ENST00000330062;ENST00000539790;ENST00000540499 D;D;D 0.89485 -2.52;-2.52;-2.52 5.74 5.74 0.90152 Isopropylmalate dehydrogenase-like domain (2); 0.101003 0.64402 D 0.000002 D 0.96738 0.8935 H 0.98005 4.125 0.49582 D 0.9998 D;D 0.76494 0.999;0.999 D;D 0.70716 0.97;0.943 D 0.97950 1.0331 10 0.87932 D 0 . 17.4143 0.87495 0.0:0.0:1.0:0.0 . 239;239 Q53GL5;P48735 .;IDHP_HUMAN V 239;109;187 ENSP00000331897:A239V;ENSP00000438457:A109V;ENSP00000446147:A187V ENSP00000331897:A239V A - 2 0 IDH2 88431774 1.000000 0.71417 0.978000 0.43139 0.002000 0.02628 7.797000 0.85911 2.721000 0.93114 0.491000 0.48974 GCC TCGA-3A-A9IH-01A-12D-A397-08 IDH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313426.1 0 0 0 6 656 0 161 0 7.881844e-01 0 315 0 161 2 0 0 0 0 0 2 1 0.963920 6 649 0 161 2 0 0 0 0 0 2 -1.951001 0 1 0 0 1 1 2 3 2.113356 0 0.510000 1.830000 0.512486 0.030000 0 0.090000 0.040000 0.050606 0.030000 0 1.000000e-02 6.000000e-02 UMOD 7369 broad.mit.edu 37 16 20357449 20357449 + Splice_Site SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:20357449G>A ENST00000570689.1 - 5 1327 c.1181C>T c.(1180-1182)aCg>aTg p.T394M UMOD_ENST00000396134.2_Splice_Site_p.T427M|UMOD_ENST00000396142.2_Splice_Site_p.T394M|UMOD_ENST00000396138.4_Splice_Site_p.T443M|UMOD_ENST00000424589.1_Splice_Site_p.T427M|UMOD_ENST00000302509.4_Splice_Site_p.T394M P07911 UROM_HUMAN uromodulin p.T394M(1) 41 AGGACGTACCGTCAACACTGT 0.567000 1 Substitution - Missense(1) SO:0001630 splice_region_variant ENST00000570689.1 1 0 hg19 CCDS10583.1 . . . . . . . . . . G 11.03 1.520286 0.27211 . . ENSG00000169344 ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142 D;D;D;D 0.82344 -1.6;-1.6;-1.6;-1.6 4.85 1.14 0.20703 Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3); 0.386132 0.22253 N 0.062527 T 0.64461 0.2600 N 0.19112 0.55 0.26258 N 0.978613 B;B 0.30511 0.282;0.153 B;B 0.21546 0.035;0.028 T 0.55496 -0.8132 10 0.48119 T 0.1 -8.2654 4.7982 0.13282 0.2971:0.1786:0.5244:0.0 . 427;394 E9PEA4;P07911 .;UROM_HUMAN M 394;427;427;394;372;394 ENSP00000379438:T427M;ENSP00000416346:T427M;ENSP00000306279:T394M;ENSP00000379446:T394M ENSP00000306279:T394M T - 2 0 UMOD 20264950 0.970000 0.33590 1.000000 0.80357 0.841000 0.47740 -0.116000 0.10724 0.409000 0.25649 0.491000 0.48974 ACG TCGA-3A-A9IH-01A-12D-A397-08 UMOD-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000436862.1 1 0 1 27 133 0 42 0 0 0 0 42 2 0 0 0 0 0 2 1 1.000000 27 128 0 42 2 0 0 0 0 0 2 -20.000000 1 1 121412 5 39 1 1 2 3 2.125779 0 0.510000 1.830000 0.514948 0.670000 4.600000e-01 1.000000 0.670000 0.689629 0.670000 0 5.600000e-01 8.100000e-01 ZNF423 23090 broad.mit.edu 37 16 49672109 49672109 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:49672109G>A ENST00000561648.1 - 4 1007 c.954C>T c.(952-954)caC>caT p.H318H ZNF423_ENST00000562871.1_Silent_p.H258H|ZNF423_ENST00000562520.1_Silent_p.H258H|ZNF423_ENST00000567169.1_Silent_p.H201H|ZNF423_ENST00000262383.2_Silent_p.H318H|ZNF423_ENST00000563137.2_Silent_p.H258H|ZNF423_ENST00000535559.1_Silent_p.H201H NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 89 all_cancers(37;0.0155) TCTGGTTGGCGTGGGCTTGGT 0.617000 0 SO:0001819 synonymous_variant ENST00000561648.1 1 1 hg19 CCDS32445.1 TCGA-3A-A9IH-01A-12D-A397-08 ZNF423-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000423258.1 0 0 1 77 205 1 71 1 8.772596e-01 3 9 1 71 2 0 0 0 0 0 2 1 1.000000 77 205 1 71 14 0 0 0 0 0 2 -20.000000 1 1 121412 5 36 1 1 2 3 2.125779 0 0.510000 1.830000 0.514948 0.990000 8.800000e-01 1.000000 1.000000 0.988403 0.990000 1 9.700000e-01 1 KCTD19 146212 broad.mit.edu 37 16 67333434 67333434 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:67333434T>C ENST00000304372.5 - 6 873 c.818A>G c.(817-819)aAg>aGg p.K273R KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 23 Ovarian(137;0.192) GCGGGCCCCCTTCCCGGGGCT 0.642000 0 SO:0001583 missense ENST00000304372.5 0 1 hg19 CCDS42179.1 . . . . . . . . . . T 14.59 2.579355 0.46006 . . ENSG00000168676 ENST00000304372 T 0.58940 0.3 5.77 5.77 0.91146 . 0.173060 0.41396 D 0.000893 T 0.40670 0.1126 N 0.14661 0.345 0.30590 N 0.761602 B 0.21753 0.06 B 0.19946 0.027 T 0.41466 -0.9507 10 0.34782 T 0.22 -27.9066 12.7641 0.57383 0.0:0.0:0.0:1.0 . 273 Q17RG1 KCD19_HUMAN R 273 ENSP00000305702:K273R ENSP00000305702:K273R K - 2 0 KCTD19 65890935 0.994000 0.37717 0.982000 0.44146 0.313000 0.28021 3.595000 0.54016 2.326000 0.78906 0.533000 0.62120 AAG TCGA-3A-A9IH-01A-12D-A397-08 KCTD19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000422061.1 0 0 0 5 589 0 139 0 0 0 0 139 2 0 0 0 0 0 2 1 0.936382 5 584 0 139 2 0 0 0 0 0 2 -3.119022 1 1 0 0 1 1 2 3 2.125779 0 0.510000 1.830000 0.514948 0.030000 0 1.000000 0.040000 0.066975 0.030000 0 1.000000e-02 6.000000e-02 LRRC36 55282 broad.mit.edu 37 16 67397524 67397524 + Silent SNP C C G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:67397524C>G ENST00000329956.6 + 6 628 c.609C>G c.(607-609)ccC>ccG p.P203P LRRC36_ENST00000563189.1_Silent_p.P82P|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Silent_p.P82P|LRRC36_ENST00000290940.7_5'UTR NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 24 Ovarian(137;0.192) TTCCCTTCCCCAACCGGGAAA 0.428000 0 SO:0001819 synonymous_variant ENST00000329956.6 1 1 hg19 CCDS32467.1 TCGA-3A-A9IH-01A-12D-A397-08 LRRC36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000421770.1 0 0 0 16 420 0 66 0 0 0 1 0 66 2 0 0 0 0 0 2 1 0.999932 16 417 0 66 2 0 0 0 0 0 2 -3.153975 1 1 0 0 1 1 2 3 2.125779 0 0.510000 1.830000 0.514948 0.140000 8.000000e-02 1.000000 0.140000 0.177797 0.140000 0 1.100000e-01 1.900000e-01 HYDIN 54768 broad.mit.edu 37 16 70902514 70902514 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:70902514C>T ENST00000393567.2 - 66 11419 c.11269G>A c.(11269-11271)Gta>Ata p.V3757I SNORD112_ENST00000515891.1_RNA NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 43 Ovarian(137;0.0654) TTTCTGGGTACGTCCACCCAC 0.527000 0 SO:0001583 missense ENST00000393567.2 1 1 hg19 CCDS59269.1 . . . . . . . . . . C 15.98 2.992987 0.54041 0.0 7.3E-4 ENSG00000157423 ENST00000393567;ENST00000316490 T 0.00856 5.61 5.17 -7.53 0.01336 . 1.450790 0.06162 N 0.676024 T 0.00695 0.0023 L 0.45581 1.43 0.09310 N 1 D 0.57257 0.979 B 0.37047 0.24 T 0.46414 -0.9193 10 0.33940 T 0.23 . 1.2147 0.01912 0.2597:0.2713:0.0911:0.3779 . 3756 F8WD23 . I 3757;3756 ENSP00000377197:V3757I ENSP00000313052:V3756I V - 1 0 HYDIN 69460015 0.000000 0.05858 0.000000 0.03702 0.593000 0.36681 -2.004000 0.01461 -0.941000 0.03700 -0.294000 0.09567 GTA TCGA-3A-A9IH-01A-12D-A397-08 HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000398624.3 0 0 0 40 145 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 1.000000 37 135 0 47 2 0 0 0 0 0 2 -3.056823 1 1 120824 45 46 1 1 2 3 2.125779 0 0.510000 1.830000 0.514948 0.850000 6.300000e-01 1.000000 1.000000 0.859896 0.850000 1 7.400000e-01 1 SLC38A8 146167 broad.mit.edu 37 16 84056458 84056458 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr16:84056458G>A ENST00000299709.3 - 6 726 c.727C>T c.(727-729)Cgc>Tgc p.R243C NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 26 CTCCGTTTGCGCATGCTGCAG 0.597000 0 SO:0001583 missense ENST00000299709.3 1 1 hg19 CCDS32495.1 . . . . . . . . . . g 13.01 2.108896 0.37242 2.27E-4 1.16E-4 ENSG00000166558 ENST00000299709 T 0.02837 4.14 5.37 -3.06 0.05379 . 0.766355 0.13025 N 0.419743 T 0.05318 0.0141 L 0.59436 1.845 0.21105 N 0.999789 D 0.71674 0.998 P 0.53185 0.72 T 0.16897 -1.0387 10 0.54805 T 0.06 -11.8938 5.2133 0.15329 0.2249:0.0:0.3705:0.4045 . 243 A6NNN8 S38A8_HUMAN C 243 ENSP00000299709:R243C ENSP00000299709:R243C R - 1 0 SLC38A8 82613959 0.704000 0.27836 0.017000 0.16124 0.002000 0.02628 0.515000 0.22801 -0.448000 0.07128 -0.233000 0.12211 CGC TCGA-3A-A9IH-01A-12D-A397-08 SLC38A8-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000432623.1 1 0 1 27 107 0 23 0 4.358094e-02 0 2 0 23 2 0 0 0 0 0 2 1 1.000000 27 107 0 23 2 0 0 0 0 0 2 -3.569890 1 1 121410 12 38 1 1 2 3 2.127413 0 0.510000 1.830000 0.514948 0.800000 5.500000e-01 1.000000 1.000000 0.809432 0.800000 0 6.700000e-01 9.600000e-01 MYH1 4619 broad.mit.edu 37 17 10398336 10398336 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:10398336G>A ENST00000226207.5 - 37 5472 c.5378C>T c.(5377-5379)aCg>aTg p.T1793M RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 176 GTCCTTCACCGTCTGTTCCAG 0.557000 0 SO:0001583 missense ENST00000226207.5 1 1 hg19 CCDS11155.1 . . . . . . . . . . G 21.3 4.126300 0.77549 . . ENSG00000109061 ENST00000226207 T 0.78126 -1.15 5.26 5.26 0.73747 Myosin tail (1); 0.000000 0.44483 U 0.000455 D 0.86280 0.5895 H 0.95745 3.715 0.58432 D 0.999997 B 0.29037 0.231 B 0.31869 0.137 D 0.87462 0.2408 10 0.72032 D 0.01 . 19.2282 0.93825 0.0:0.0:1.0:0.0 . 1793 P12882 MYH1_HUMAN M 1793 ENSP00000226207:T1793M ENSP00000226207:T1793M T - 2 0 MYH1 10339061 1.000000 0.71417 0.998000 0.56505 0.824000 0.46624 9.809000 0.99208 2.616000 0.88540 0.561000 0.74099 ACG TCGA-3A-A9IH-01A-12D-A397-08 MYH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252725.1 1 0 0 165 328 0 152 0 0 0 0 152 2 0 0 0 0 0 2 1 1.000000 162 325 0 149 2 0 0 0 0 0 2 -20.000000 1 1 121412 10 44 1 0 1 1 1.616215 1 0.510000 1.830000 0.342282 0.940000 8.400000e-01 1.000000 0.970000 0.943084 0.940000 1 8.900000e-01 9.900000e-01 GAS2L2 246176 broad.mit.edu 37 17 34074090 34074090 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:34074090G>A ENST00000254466.6 - 5 1057 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C GAS2L2_ENST00000587565.1_Missense_Mutation_p.R328C NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 35 Ovarian(249;0.17) CGTTCCCTGCGGGGTCTGGGG 0.627000 0 SO:0001583 missense ENST00000254466.6 1 1 hg19 CCDS11298.1 . . . . . . . . . . G 8.982 0.975671 0.18736 0.0 1.16E-4 ENSG00000132139 ENST00000254466 T 0.20069 2.1 4.8 -4.68 0.03309 . 1.579220 0.03355 N 0.196716 T 0.20170 0.0485 L 0.46157 1.445 0.09310 N 1 B 0.09022 0.002 B 0.04013 0.001 T 0.35226 -0.9797 10 0.45353 T 0.12 2.3467 11.3093 0.49353 0.6232:0.0:0.3768:0.0 . 344 Q8NHY3 GA2L2_HUMAN C 344 ENSP00000254466:R344C ENSP00000254466:R344C R - 1 0 GAS2L2 31098203 0.001000 0.12720 0.000000 0.03702 0.002000 0.02628 0.031000 0.13710 -1.053000 0.03218 -0.258000 0.10820 CGC TCGA-3A-A9IH-01A-12D-A397-08 GAS2L2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256497.1 1 0 0 105 233 0 60 0 0 0 1 0 60 2 0 0 0 0 0 2 1 1.000000 105 232 1 55 20 0 0 0 0 0 2 -8.695949 1 1 121330 3 34 1 0 0 0 2.076819 0 0.510000 1.830000 0.507488 0.990000 9.900000e-01 1.000000 1.000000 0.999608 0.990000 1 9.900000e-01 1 TADA2A 6871 broad.mit.edu 37 17 35830625 35830625 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:35830625G>A ENST00000394395.2 + 13 1190 c.1017G>A c.(1015-1017)cgG>cgA p.R339R TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.R339R NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 13 GGCTCCGCCGGCAAGCTGACA 0.507000 0 SO:0001819 synonymous_variant ENST00000394395.2 0 1 hg19 CCDS11319.1 TCGA-3A-A9IH-01A-12D-A397-08 TADA2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256677.3 0 0 0 5 356 0 64 0 4.673532e-02 0 20 0 64 2 0 0 0 0 0 2 1 0.937503 5 355 0 62 2 0 0 0 0 0 2 -2.583425 1 1 0 0 1 0 0 0 2.076819 0 0.510000 1.830000 0.507488 0.050000 1.000000e-02 0.120000 0.060000 0.064297 0.050000 0 3.000000e-02 9.000000e-02 FBXO47 494188 broad.mit.edu 37 17 37099973 37099973 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:37099973C>T ENST00000378079.2 - 8 1009 c.810G>A c.(808-810)caG>caA p.Q270Q NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 20 CTATCATTTCCTGCCAAACCA 0.388000 0 SO:0001819 synonymous_variant ENST00000378079.2 1 1 hg19 CCDS32639.1 TCGA-3A-A9IH-01A-12D-A397-08 FBXO47-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444073.1 1 0 1 89 343 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 1.000000 89 342 0 85 2 0 0 0 0 0 2 -3.762688 1 1 0 0 1 0 0 0 2.076819 0 0.510000 1.830000 0.507488 0.790000 6.500000e-01 0.950000 0.810000 0.807056 0.790000 0 7.200000e-01 8.800000e-01 WFIKKN2 124857 broad.mit.edu 37 17 48917431 48917431 + Missense_Mutation SNP G G A rs146708003 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:48917431G>A ENST00000311378.4 + 2 1310 c.782G>A c.(781-783)cGt>cAt p.R261H WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R168H|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AACCATGTGCGTGGCAACGTG 0.617000 0 SO:0001583 missense ENST00000311378.4 0 1 hg19 CCDS11575.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 18.24 3.580087 0.65992 2.27E-4 0.0 ENSG00000173714 ENST00000426127;ENST00000311378 T;T 0.69806 -0.43;-0.43 5.44 4.41 0.53225 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.360711 0.29126 N 0.013070 T 0.63803 0.2542 N 0.21448 0.665 0.43930 D 0.996584 D 0.54772 0.968 P 0.55871 0.786 T 0.57522 -0.7797 10 0.15952 T 0.53 . 15.6499 0.77084 0.0:0.1374:0.8626:0.0 . 261 Q8TEU8 WFKN2_HUMAN H 168;261 ENSP00000405889:R168H;ENSP00000311184:R261H ENSP00000311184:R261H R + 2 0 WFIKKN2 46272430 0.157000 0.22836 0.977000 0.42913 0.991000 0.79684 1.787000 0.38704 2.533000 0.85409 0.651000 0.88453 CGT TCGA-3A-A9IH-01A-12D-A397-08 WFIKKN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368358.1 0 0 0 4 251 0 68 0 0 0 0 68 2 0 0 0 0 0 2 1 0.886384 4 246 0 66 2 0 0 0 0 0 2 -5.189908 1 1 121412 2 35 1 0 0 0 2.062199 0 0.510000 1.830000 0.504950 0.060000 1.000000e-02 0.150000 0.060000 0.075182 0.060000 0 3.000000e-02 1.100000e-01 PRKCA 5578 broad.mit.edu 37 17 64770147 64770147 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:64770147G>A ENST00000413366.3 + 14 1593 c.1567G>A c.(1567-1569)Gcc>Acc p.A523T NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163) GGACTGGTGGGCCTATGGCGT 0.418000 0 SO:0001583 missense ENST00000413366.3 1 0 hg19 CCDS11664.1 . . . . . . . . . . G 36 5.975659 0.97162 . . ENSG00000154229 ENST00000413366;ENST00000284384 T 0.31769 1.48 5.61 5.61 0.85477 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 U 0.000000 T 0.56731 0.2005 M 0.71296 2.17 0.80722 D 1 D;D 0.65815 0.995;0.995 D;D 0.70487 0.969;0.969 T 0.58624 -0.7604 10 0.87932 D 0 . 18.4403 0.90664 0.0:0.0:1.0:0.0 . 523;434 P17252;Q59FI5 KPCA_HUMAN;. T 523;430 ENSP00000408695:A523T ENSP00000284384:A430T A + 1 0 PRKCA 62200609 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 6.932000 0.75869 2.643000 0.89663 0.643000 0.83706 GCC TCGA-3A-A9IH-01A-12D-A397-08 PRKCA-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446976.1 1 0 1 89 385 0 75 0 9.996456e-01 0 53 0 75 2 0 0 0 0 0 2 1 1.000000 89 380 0 74 2 0 0 0 0 0 2 -2.693634 1 1 0 0 1 0 0 0 2.045659 0 0.510000 1.830000 0.494533 0.700000 5.800000e-01 0.850000 0.710000 0.717233 0.700000 0 6.400000e-01 7.800000e-01 TP53 7157 broad.mit.edu 37 17 7578502 7578502 + Missense_Mutation SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 A T A A Valid Somatic Phase_I WXS targeted Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr17:7578502A>T ENST00000269305.4 - 5 617 c.428T>A c.(427-429)gTg>gAg p.V143E TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V143E|TP53_ENST00000420246.2_Missense_Mutation_p.V143E|TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000413465.2_Missense_Mutation_p.V143E 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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CCACAGCTGCACAGGGCAGGT 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 42 Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2) 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 . . . . . . . . . . A 13.76 2.333767 0.41297 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793 D;D;D;D;D;D;D;D;D 0.99840 -7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08 5.48 1.94 0.25998 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.343688 0.28219 N 0.016151 D 0.99697 0.9885 M 0.87381 2.88 0.48975 D 0.99973 D;D;D;D;D;D;D 0.89917 0.999;0.999;0.997;1.0;0.999;1.0;1.0 D;D;D;D;D;D;D 0.91635 0.998;0.996;0.993;0.996;0.999;0.999;0.996 D 0.99035 1.0822 10 0.87932 D 0 -32.0412 3.2523 0.06819 0.6411:0.1439:0.0771:0.1378 . 104;143;143;50;143;143;143 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. E 143;143;143;143;143;143;132;50;11;50;11;143 ENSP00000410739:V143E;ENSP00000352610:V143E;ENSP00000269305:V143E;ENSP00000398846:V143E;ENSP00000391127:V143E;ENSP00000391478:V143E;ENSP00000425104:V11E;ENSP00000423862:V50E;ENSP00000424104:V143E ENSP00000269305:V143E V - 2 0 TP53 7519227 1.000000 0.71417 0.664000 0.29753 0.012000 0.07955 9.264000 0.95635 0.097000 0.17492 -0.336000 0.08194 GTG TCGA-3A-A9IH-01A-12D-A397-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 70 149 0 58 1 9.999991e-01 28 21 0 58 2 1 1 372 784 0 1365 2 1 1.000000 67 147 0 56 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.616215 1 0.510000 1.830000 0.342282 0.890000 7.400000e-01 1.000000 0.930000 0.896766 0.890000 1 8.200000e-01 9.700000e-01 MIB1 57534 broad.mit.edu 37 18 19429284 19429284 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:19429284T>C ENST00000261537.6 + 17 2785 c.2521T>C c.(2521-2523)Tct>Cct p.S841P MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 27 STAD - Stomach adenocarcinoma(5;0.212) TGCTACCTGTTCTTTATGTTC 0.343000 0 SO:0001583 missense ENST00000261537.6 1 1 hg19 CCDS11871.1 . . . . . . . . . . T 18.12 3.554016 0.65425 . . ENSG00000101752 ENST00000261537 T 0.79554 -1.28 5.33 5.33 0.75918 Zinc finger, RING-type (2); 0.000000 0.85682 D 0.000000 D 0.88422 0.6432 M 0.77103 2.36 0.80722 D 1 P 0.49961 0.93 P 0.62184 0.899 D 0.88191 0.2877 10 0.40728 T 0.16 -11.9712 15.3214 0.74124 0.0:0.0:0.0:1.0 . 841 Q86YT6 MIB1_HUMAN P 841 ENSP00000261537:S841P ENSP00000261537:S841P S + 1 0 MIB1 17683282 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 8.040000 0.89188 2.019000 0.59389 0.477000 0.44152 TCT TCGA-3A-A9IH-01A-12D-A397-08 MIB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254675.1 1 0 1 68 388 0 102 1 4.555024e-01 3 7 0 102 2 0 0 0 0 0 2 1 1.000000 67 387 0 102 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 1.748838 1 0.510000 1.830000 0.414436 0.480000 3.800000e-01 0.600000 0.490000 0.492857 0.480000 0 4.300000e-01 5.500000e-01 SMAD4 4089 broad.mit.edu 37 18 48575093 48575093 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:48575093C>A ENST00000342988.3 + 3 825 c.287C>A c.(286-288)gCc>gAc p.A96D SMAD4_ENST00000452201.2_Missense_Mutation_p.A96D|SMAD4_ENST00000588745.1_Missense_Mutation_p.A96D|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.A96D NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.?(4) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) GTGATCTATGCCCGTCTCTGG 0.368000 40 Whole gene deletion(36)|Unknown(4) SO:0001583 missense ENST00000342988.3 1 1 hg19 CCDS11950.1 . . . . . . . . . . C 32 5.107210 0.94292 . . ENSG00000141646 ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417 T;T;T 0.78246 -1.16;-1.16;-1.16 5.32 5.32 0.75619 MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2); 0.000000 0.85682 D 0.000000 D 0.86973 0.6062 M 0.70595 2.14 0.80722 D 1 D 0.71674 0.998 D 0.66497 0.944 D 0.88383 0.3003 10 0.87932 D 0 . 17.7655 0.88476 0.0:1.0:0.0:0.0 . 96 Q13485 SMAD4_HUMAN D 96 ENSP00000409551:A96D;ENSP00000341551:A96D;ENSP00000381452:A96D ENSP00000341551:A96D A + 2 0 SMAD4 46829091 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.064000 0.71169 2.463000 0.83235 0.585000 0.79938 GCC TCGA-3A-A9IH-01A-12D-A397-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 1 35 154 0 57 1 9.714005e-01 8 20 0 57 2 1 1 57 193 0 286 2 1 1.000000 35 151 0 57 2 0 0 0 0 0 2 -19.884910 1 1 0 0 1 0 1 1 1.509155 1 0.510000 1.830000 0.344525 0.530000 3.900000e-01 0.700000 0.540000 0.547014 0.530000 0 4.600000e-01 6.300000e-01 DCC 1630 broad.mit.edu 37 18 50450207 50450207 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr18:50450207C>T ENST00000442544.2 + 4 1444 c.828C>T c.(826-828)ggC>ggT p.G276G DCC_ENST00000412726.1_Silent_p.G124G NM_005215.3 NP_005206.2 P43146 DCC_HUMAN DCC netrin 1 receptor 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) GGTTACGAGGCGAGGAAGTCA 0.373000 0 SO:0001819 synonymous_variant ENST00000442544.2 1 1 hg19 CCDS11952.1 TCGA-3A-A9IH-01A-12D-A397-08 DCC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255996.3 1 0 1 85 232 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 1.000000 85 231 0 55 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.509155 1 0.510000 1.830000 0.344525 0.770000 6.400000e-01 0.920000 0.780000 0.785232 0.770000 0 7.000000e-01 8.500000e-01 ZNF569 148266 broad.mit.edu 37 19 37905084 37905084 + Missense_Mutation SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:37905084A>T ENST00000316950.6 - 6 1033 c.476T>A c.(475-477)cTt>cAt p.L159H ZNF569_ENST00000392150.2_5'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.L159H NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTTTCTCATAAGGCATTTCAC 0.333000 0 SO:0001583 missense ENST00000316950.6 1 1 hg19 CCDS12503.1 . . . . . . . . . . A 0.031 -1.332860 0.01298 . . ENSG00000196437 ENST00000316950 T 0.07688 3.17 3.37 1.09 0.20402 . 1.309050 0.05886 N 0.627427 T 0.04588 0.0125 N 0.24115 0.695 0.09310 N 0.999992 B 0.02656 0.0 B 0.01281 0.0 T 0.39272 -0.9622 10 0.02654 T 1 . 2.6069 0.04880 0.4596:0.0:0.1298:0.4106 . 159 Q5MCW4 ZN569_HUMAN H 159 ENSP00000325018:L159H ENSP00000325018:L159H L - 2 0 ZNF569 42596924 0.000000 0.05858 0.000000 0.03702 0.834000 0.47266 0.045000 0.14013 0.060000 0.16281 0.482000 0.46254 CTT TCGA-3A-A9IH-01A-12D-A397-08 ZNF569-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109594.2 1 0 1 42 240 0 46 0 6.277014e-02 0 3 0 46 2 0 0 0 0 0 2 1 1.000000 42 240 0 46 2 0 0 0 0 0 2 -19.857770 1 1 0 0 1 0 0 0 1.993156 0 0.510000 1.830000 0.486427 0.550000 4.100000e-01 0.720000 0.560000 0.564391 0.550000 0 4.700000e-01 6.400000e-01 ZNF175 7728 broad.mit.edu 37 19 52091537 52091537 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:52091537G>A ENST00000262259.2 + 5 2311 c.1953G>A c.(1951-1953)tcG>tcA p.S651S ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 24 all_neural(266;0.0299) GTGGGAAATCGTTCAGTAAGA 0.438000 0 SO:0001819 synonymous_variant ENST00000262259.2 1 1 hg19 CCDS12837.1 TCGA-3A-A9IH-01A-12D-A397-08 ZNF175-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396205.1 1 0 1 71 259 0 49 1 6.690577e-01 2 8 0 49 2 0 0 0 0 0 2 1 1.000000 70 257 0 49 2 0 0 0 0 0 2 -20.000000 1 1 121412 4 40 1 0 0 0 2.074281 0 0.510000 1.830000 0.507488 0.830000 6.700000e-01 1.000000 1.000000 0.841983 0.830000 0 7.500000e-01 9.300000e-01 PEG3 5178 broad.mit.edu 37 19 57328017 57328017 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr19:57328017C>T ENST00000326441.9 - 10 2156 c.1793G>A c.(1792-1794)cGt>cAt p.R598H PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 p.R598H(2) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) ttcacgttcacgttcatgttc 0.458000 2 Substitution - Missense(2) SO:0001583 missense ENST00000326441.9 0 1 hg19 CCDS12948.1 . . . . . . . . . . C 0.743 -0.775804 0.02951 . . ENSG00000198300 ENST00000326441;ENST00000423103 T;T 0.02863 4.13;4.13 1.08 -0.0769 0.13721 . . . . . T 0.02193 0.0068 L 0.50333 1.59 . . . B;B;P 0.40107 0.055;0.291;0.703 B;B;B 0.23150 0.001;0.013;0.044 T 0.41251 -0.9519 8 0.56958 D 0.05 . 3.4582 0.07523 0.0:0.7126:0.0:0.2874 . 474;598;533 A7E2B8;Q9GZU2;Q96Q96 .;PEG3_HUMAN;. H 598 ENSP00000326581:R598H;ENSP00000403051:R598H ENSP00000326581:R598H R - 2 0 ZIM2 62019829 0.000000 0.05858 0.010000 0.14722 0.165000 0.22458 -0.044000 0.12023 0.063000 0.16370 0.525000 0.51046 CGT TCGA-3A-A9IH-01A-12D-A397-08 PEG3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000416099.2 0 0 0 5 211 0 40 0 0 0 0 40 2 0 0 0 0 0 2 1 0.935956 5 208 0 39 2 0 0 0 0 0 2 -3.214203 1 1 0 0 1 0 0 0 2.056173 0 0.510000 1.830000 0.504950 0.090000 3.000000e-02 0.200000 0.090000 0.106352 0.090000 0 5.000000e-02 1.500000e-01 CTSS 1520 broad.mit.edu 37 1 150722622 150722622 + Missense_Mutation SNP T T G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:150722622T>G ENST00000368985.3 - 6 913 c.653A>C c.(652-654)aAa>aCa p.K218T CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.K168T NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) AGCACGATATTTTGAGTCATA 0.393000 0 SO:0001583 missense ENST00000368985.3 1 1 hg19 CCDS968.1 . . . . . . . . . . T 5.005 0.186606 0.09547 . . ENSG00000163131 ENST00000448301;ENST00000368985 D;T 0.97598 -4.45;1.98 5.45 3.18 0.36537 Peptidase C1A, papain C-terminal (2); 0.409268 0.29668 N 0.011514 T 0.78534 0.4298 N 0.02213 -0.635 0.09310 N 1 B;B 0.09022 0.002;0.002 B;B 0.14023 0.005;0.01 T 0.73107 -0.4087 10 0.20046 T 0.44 . 6.2497 0.20839 0.0:0.0981:0.3428:0.5592 . 168;218 B4DWC9;P25774 .;CATS_HUMAN T 168;218 ENSP00000408414:K168T;ENSP00000357981:K218T ENSP00000357981:K218T K - 2 0 CTSS 148989246 0.000000 0.05858 0.088000 0.20740 0.438000 0.31896 0.260000 0.18424 0.910000 0.36722 0.383000 0.25322 AAA TCGA-3A-A9IH-01A-12D-A397-08 CTSS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084737.1 1 0 1 82 257 0 56 1 1 291 360 0 56 2 0 0 0 0 0 2 1 1.000000 82 254 0 54 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.139769 0 0.510000 1.830000 0.517384 0.960000 7.800000e-01 1.000000 1.000000 0.946323 0.960000 1 8.700000e-01 1 ASH1L 55870 broad.mit.edu 37 1 155449582 155449582 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:155449582C>T ENST00000368346.3 - 3 3718 c.3079G>A c.(3079-3081)Gcc>Acc p.A1027T ASH1L_ENST00000392403.3_Missense_Mutation_p.A1027T Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CCAAATGTGGCAGCAAGACTT 0.368000 0 SO:0001583 missense ENST00000368346.3 1 1 hg19 . . . . . . . . . . C 18.95 3.732582 0.69189 . . ENSG00000116539 ENST00000368346;ENST00000392403 D;D 0.91464 -2.85;-2.85 5.32 5.32 0.75619 . 0.000000 0.85682 D 0.000000 D 0.88760 0.6524 N 0.11560 0.145 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.996;0.998 D 0.89864 0.4018 10 0.41790 T 0.15 . 18.7909 0.91974 0.0:1.0:0.0:0.0 . 1027;1027 Q9NR48;Q9NR48-2 ASH1L_HUMAN;. T 1027 ENSP00000357330:A1027T;ENSP00000376204:A1027T ENSP00000357330:A1027T A - 1 0 ASH1L 153716206 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.651000 0.83577 2.773000 0.95371 0.655000 0.94253 GCC TCGA-3A-A9IH-01A-12D-A397-08 ASH1L-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000039400.1 1 0 1 104 298 0 54 0 5.777290e-01 1 6 0 54 2 0 0 0 0 0 2 1 1.000000 102 294 0 54 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.145639 0 0.510000 1.830000 0.517384 0.990000 8.600000e-01 1.000000 1.000000 0.980335 0.990000 1 9.400000e-01 1 OR2G2 81470 broad.mit.edu 37 1 247751947 247751947 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:247751947G>A ENST00000320065.1 + 1 286 c.286G>A c.(286-288)Gcc>Acc p.A96T RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GAAAACTATCGCCTATGGTGG 0.527000 0 SO:0001583 missense ENST00000320065.1 1 1 hg19 CCDS31092.1 . . . . . . . . . . A 3.757 -0.050345 0.07407 0.0 1.16E-4 ENSG00000177489 ENST00000320065 T 0.01084 5.36 4.29 -1.92 0.07618 GPCR, rhodopsin-like superfamily (1); 0.226724 0.21845 N 0.068280 T 0.00384 0.0012 N 0.00303 -1.675 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.45760 -0.9239 10 0.33141 T 0.24 . 6.2696 0.20947 0.29:0.0:0.086:0.624 . 96 Q8NGZ5 OR2G2_HUMAN T 96 ENSP00000326349:A96T ENSP00000326349:A96T A + 1 0 OR2G2 245818570 0.000000 0.05858 0.761000 0.31378 0.087000 0.18053 0.484000 0.22308 -0.476000 0.06842 -0.333000 0.08304 GCC TCGA-3A-A9IH-01A-12D-A397-08 OR2G2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097623.1 1 0 1 81 424 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 1.000000 81 419 0 50 2 0 0 0 0 0 2 -20.000000 1 1 121412 2 41 1 1 2 3 2.131603 0 0.510000 1.830000 0.514948 0.630000 5.100000e-01 1.000000 0.630000 0.649909 0.630000 0 5.700000e-01 7.100000e-01 EPB41 2035 broad.mit.edu 37 1 29314224 29314224 + Missense_Mutation SNP C C A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr1:29314224C>A ENST00000343067.4 + 2 402 c.275C>A c.(274-276)tCt>tAt p.S92Y EPB41_ENST00000398863.2_Missense_Mutation_p.S92Y|EPB41_ENST00000373797.1_Missense_Mutation_p.S92Y|EPB41_ENST00000349460.4_5'UTR|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000356093.2_Missense_Mutation_p.S92Y|EPB41_ENST00000347529.3_Missense_Mutation_p.S92Y|EPB41_ENST00000373798.1_Missense_Mutation_p.S92Y|EPB41_ENST00000373800.3_5'UTR NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) AGGCCCAAATCTCAGGTGTCC 0.443000 0 SO:0001583 missense ENST00000343067.4 1 1 hg19 CCDS53288.1 . . . . . . . . . . C 19.39 3.817592 0.70912 . . ENSG00000159023 ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797 D;D;D;D;D;D 0.89270 -2.39;-2.35;-2.23;-2.49;-2.39;-2.4 5.6 4.69 0.59074 . 0.246899 0.35646 N 0.003068 D 0.91181 0.7222 L 0.32530 0.975 0.41562 D 0.988632 D;D;D;D;D 0.89917 0.999;0.997;0.999;1.0;1.0 D;D;D;D;D 0.91635 0.996;0.983;0.998;0.999;0.998 D 0.92387 0.5918 10 0.72032 D 0.01 . 15.2268 0.73357 0.1417:0.8583:0.0:0.0 . 92;92;92;92;92 C9JTS2;P11171;P11171-2;P11171-7;P11171-5 .;41_HUMAN;.;.;. Y 109;92;92;92;92;92;92;92;92 ENSP00000345259:S92Y;ENSP00000348397:S92Y;ENSP00000381839:S92Y;ENSP00000290100:S92Y;ENSP00000362904:S92Y;ENSP00000362903:S92Y ENSP00000345259:S92Y S + 2 0 EPB41 29186811 1.000000 0.71417 0.999000 0.59377 0.984000 0.73092 3.161000 0.50747 1.375000 0.46248 -0.133000 0.14855 TCT TCGA-3A-A9IH-01A-12D-A397-08 EPB41-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000010312.1 1 0 1 134 383 0 79 1 9.789110e-01 9 11 0 79 2 0 0 0 0 0 2 1 1.000000 131 377 0 76 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.131992 0 0.510000 1.830000 0.514948 0.990000 8.700000e-01 1.000000 1.000000 0.982372 0.990000 1 9.400000e-01 1 PAX1 5075 broad.mit.edu 37 20 21687488 21687488 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:21687488G>A ENST00000398485.2 + 2 753 c.699G>A c.(697-699)ccG>ccA p.P233P PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.P209P NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 38 AGCCCGGACCGTACGAGGCAA 0.642000 0 SO:0001819 synonymous_variant ENST00000398485.2 0 1 hg19 CCDS13146.2 TCGA-3A-A9IH-01A-12D-A397-08 PAX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078282.3 0 0 0 5 288 0 77 0 0 0 0 77 2 0 0 0 0 0 2 1 0.937504 5 287 0 72 2 0 0 0 0 0 2 -3.089679 1 1 0 0 1 0 2 2 2.139153 1 0.510000 1.830000 0.510000 0.070000 2.000000e-02 1.000000 0.060000 0.229816 0.070000 0 4.000000e-02 1 BCAS1 8537 broad.mit.edu 37 20 52570062 52570062 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr20:52570062G>A ENST00000395961.3 - 11 1755 c.1589C>T c.(1588-1590)aCg>aTg p.T530M BCAS1_ENST00000371435.2_Missense_Mutation_p.T452M|BCAS1_ENST00000434986.2_Missense_Mutation_p.T196M|BCAS1_ENST00000371440.3_Missense_Mutation_p.T539M NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CGTGTCCACCGTGGCCTGCTC 0.562000 0 SO:0001583 missense ENST00000395961.3 0 1 hg19 CCDS13444.1 3|3 0.0013736263736263737|0.0013736263736263737 0|0 0.0|0.0 0|0 0.0|0.0 3|3 0.005244755244755245|0.005244755244755245 0|0 0.0|0.0 G|G 13.51|13.51 2.259581|2.259581 0.39995|0.39995 .|. .|. ENSG00000064787|ENSG00000064787 ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986 .|T;T;T;T;T .|0.32515 .|2.15;2.41;2.45;2.41;1.45 5.17|5.17 -10.3|-10.3 0.00346|0.00346 .|. .|1.843200 .|0.02444 .|N .|0.084842 T|T 0.16685|0.16685 0.0401|0.0401 N|N 0.22421|0.22421 0.69|0.69 0.09310|0.09310 N|N 1|1 .|B;B;B;B;D;D .|0.64830 .|0.067;0.209;0.067;0.239;0.994;0.994 .|B;B;B;B;P;P .|0.51833 .|0.016;0.055;0.016;0.057;0.681;0.681 T|T 0.50448|0.50448 -0.8827|-0.8827 5|10 .|0.44086 .|T .|0.13 2.3235|2.3235 4.623|4.623 0.12465|0.12465 0.5131:0.2359:0.1717:0.0793|0.5131:0.2359:0.1717:0.0793 .|. .|530;196;539;452;530;530 .|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363 .|.;.;.;.;.;BCAS1_HUMAN W|M 193|401;539;330;530;452;196 .|ENSP00000396361:T401M;ENSP00000360495:T539M;ENSP00000379290:T530M;ENSP00000360490:T452M;ENSP00000409956:T196M .|ENSP00000360490:T452M R|T -|- 1|2 2|0 BCAS1|BCAS1 52003469|52003469 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.022000|0.022000 0.10575|0.10575 -1.697000|-1.697000 0.01910|0.01910 -2.036000|-2.036000 0.00922|0.00922 -0.228000|-0.228000 0.12330|0.12330 CGG|ACG TCGA-3A-A9IH-01A-12D-A397-08 BCAS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079766.2 0 0 0 5 377 0 48 0 9.116354e-01 0 332 0 48 2 0 0 0 0 0 2 1 0.937069 5 375 0 47 2 0 0 0 0 0 2 -2.780121 1 1 121410 51 50 1 1 2 3 2.097570 0 0.510000 1.830000 0.511246 0.050000 1.000000e-02 0.120000 0.060000 0.061241 0.050000 0 3.000000e-02 9.000000e-02 CABIN1 23523 broad.mit.edu 37 22 24447387 24447387 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:24447387C>T ENST00000398319.2 + 8 1142 c.757C>T c.(757-759)Cgg>Tgg p.R253W CABIN1_ENST00000263119.5_Missense_Mutation_p.R253W|CABIN1_ENST00000405822.2_Intron NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 65 GCTGATTGTGCGGGAGAAGGA 0.552000 0 SO:0001583 missense ENST00000398319.2 0 1 hg19 CCDS13823.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 17.86 3.492173 0.64074 . . ENSG00000099991 ENST00000454754;ENST00000263119;ENST00000445422;ENST00000398319;ENST00000536026 T;T;T;T 0.62364 0.38;0.03;0.38;0.03 5.32 3.11 0.35812 . 0.176588 0.51477 D 0.000099 T 0.65396 0.2687 L 0.50333 1.59 0.80722 D 1 D;D;D 0.65815 0.995;0.994;0.987 P;P;B 0.51945 0.685;0.606;0.394 T 0.68526 -0.5385 10 0.72032 D 0.01 . 13.6165 0.62110 0.2825:0.7175:0.0:0.0 . 208;253;253 C9J068;F5H5W5;Q9Y6J0 .;.;CABIN_HUMAN W 208;253;208;253;253 ENSP00000394209:R208W;ENSP00000263119:R253W;ENSP00000412389:R208W;ENSP00000381364:R253W ENSP00000263119:R253W R + 1 2 CABIN1 22777387 1.000000 0.71417 0.517000 0.27799 0.631000 0.37964 2.925000 0.48884 0.672000 0.31204 0.551000 0.68910 CGG TCGA-3A-A9IH-01A-12D-A397-08 CABIN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320161.2 0 0 0 5 289 0 61 0 1.774236e-01 0 37 0 61 2 0 0 0 0 0 2 1 0.936940 5 287 0 61 2 0 0 0 0 0 2 -2.616011 1 1 121412 23 44 1 0 1 1 2.005203 1 0.510000 1.830000 0.344525 0.050000 1.000000e-02 0.110000 0.050000 0.059045 0.050000 0 3.000000e-02 8.000000e-02 MYO18B 84700 broad.mit.edu 37 22 26173732 26173732 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:26173732G>A ENST00000407587.2 + 8 2221 c.2052G>A c.(2050-2052)gtG>gtA p.V684V MYO18B_ENST00000335473.7_Silent_p.V684V|MYO18B_ENST00000536101.1_Silent_p.V684V Q8IUG5 MY18B_HUMAN myosin XVIIIB 146 CAGGCAGTGTGGATGGCAGGG 0.592000 0 SO:0001819 synonymous_variant ENST00000407587.2 1 1 hg19 TCGA-3A-A9IH-01A-12D-A397-08 MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 1 0 1 57 345 0 114 0 0 0 0 114 2 0 0 0 0 0 2 1 1.000000 55 338 0 111 2 0 0 0 0 0 2 -3.143323 1 1 0 0 1 0.510000 1.830000 0 0 MYO18B 84700 broad.mit.edu 37 22 26173733 26173733 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr22:26173733G>C ENST00000407587.2 + 8 2222 c.2053G>C c.(2053-2055)Gat>Cat p.D685H MYO18B_ENST00000335473.7_Missense_Mutation_p.D685H|MYO18B_ENST00000536101.1_Missense_Mutation_p.D685H Q8IUG5 MY18B_HUMAN myosin XVIIIB 146 AGGCAGTGTGGATGGCAGGGT 0.587000 0 SO:0001583 missense ENST00000407587.2 1 1 hg19 . . . . . . . . . . G 13.04 2.117718 0.37339 . . ENSG00000133454 ENST00000536101;ENST00000335473;ENST00000407587 D;D;D 0.87491 -2.26;-2.26;-2.26 5.41 4.39 0.52855 Myosin head, motor domain (2); 0.199793 0.41938 D 0.000795 D 0.91355 0.7273 L 0.58101 1.795 0.40199 D 0.977491 D;D;D;D 0.89917 0.999;1.0;1.0;1.0 D;D;D;D 0.75484 0.962;0.986;0.976;0.976 D 0.91923 0.5549 10 0.59425 D 0.04 . 13.2306 0.59941 0.0762:0.0:0.9238:0.0 . 198;685;685;685 Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7 .;MY18B_HUMAN;.;. H 685 ENSP00000441229:D685H;ENSP00000334563:D685H;ENSP00000386096:D685H ENSP00000334563:D685H D + 1 0 MYO18B 24503733 1.000000 0.71417 0.993000 0.49108 0.145000 0.21501 3.357000 0.52277 1.282000 0.44496 0.655000 0.94253 GAT TCGA-3A-A9IH-01A-12D-A397-08 MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000400691.1 1 0 1 57 339 0 115 0 0 0 0 115 2 0 0 0 0 0 2 1 1.000000 55 332 0 112 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0.510000 1.830000 0 0 STAT1 6772 broad.mit.edu 37 2 191859900 191859900 + Silent SNP A A T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:191859900A>T ENST00000361099.3 - 10 1218 c.831T>A c.(829-831)ctT>ctA p.L277L STAT1_ENST00000392322.3_Silent_p.L277L|STAT1_ENST00000409465.1_Silent_p.L277L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L279L NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) CCAACTTTTTAAGCTGCTGCC 0.458000 0 SO:0001819 synonymous_variant ENST00000361099.3 0 1 hg19 CCDS2309.1 TCGA-3A-A9IH-01A-12D-A397-08 STAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255997.3 0 0 0 5 344 0 53 0 9.142193e-01 0 307 0 53 2 0 0 0 0 0 2 0 0.934595 0 342 0 53 2 0 0 0 0 0 2 -5.865498 1 0 0 0 1 0 0 0 2.030307 0 0.510000 1.830000 0.494533 0.050000 1.000000e-02 0.120000 0.060000 0.064798 0.050000 0 3.000000e-02 9.000000e-02 BIRC6 57448 broad.mit.edu 37 2 32582309 32582309 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:32582309G>A ENST00000421745.2 + 1 214 c.80G>A c.(79-81)cGg>cAg p.R27Q NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 172 Acute lymphoblastic leukemia(172;0.155) AGCGCAGGCCGGAAGATGGCG 0.746000 Pancreas(94;175 1509 16028 18060 45422) 0 SO:0001583 missense ENST00000421745.2 0 1 hg19 CCDS33175.2 . . . . . . . . . . G 25.6 4.653258 0.88056 . . ENSG00000115760 ENST00000421745 T 0.74947 -0.89 3.94 3.94 0.45596 . . . . . T 0.58623 0.2135 N 0.08118 0 0.30688 N 0.75164 D 0.63880 0.993 B 0.44108 0.441 T 0.63839 -0.6546 9 0.62326 D 0.03 . 13.3635 0.60669 0.0:0.0:1.0:0.0 . 27 Q9NR09 BIRC6_HUMAN Q 27 ENSP00000393596:R27Q ENSP00000393596:R27Q R + 2 0 BIRC6 32435813 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.268000 0.51585 2.198000 0.70561 0.563000 0.77884 CGG TCGA-3A-A9IH-01A-12D-A397-08 BIRC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318769.3 1 0 0 11 18 0 8 0 0 0 1 0 8 2 0 0 0 0 0 2 1 0.999351 11 18 0 8 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.047096 0 0.510000 1.830000 0.499796 0.990000 8.300000e-01 1.000000 1.000000 0.989252 0.990000 1 9.900000e-01 1 RETSAT 54884 broad.mit.edu 37 2 85571747 85571747 + Missense_Mutation SNP T T C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:85571747T>C ENST00000295802.4 - 7 1338 c.1226A>G c.(1225-1227)tAt>tGt p.Y409C RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.Y348C|RETSAT_ENST00000263854.6_Missense_Mutation_p.Y409C NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 30 Vitamin A(DB00162) ATAGTAAACATAGTAGTTGGT 0.567000 0 SO:0001583 missense ENST00000295802.4 1 1 hg19 CCDS1972.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 16.11|16.11 3.031158|3.031158 0.54790|0.54790 .|. .|. ENSG00000042445|ENSG00000042445 ENST00000449375|ENST00000295802;ENST00000263854;ENST00000457495 .|T;T .|0.23754 .|1.92;1.89 4.62|4.62 0.301|0.301 0.15781|0.15781 .|. .|0.505894 .|0.23504 .|N .|0.047471 T|T 0.35189|0.35189 0.0923|0.0923 L|L 0.60455|0.60455 1.87|1.87 0.31918|0.31918 N|N 0.613849|0.613849 .|D;D;D .|0.62365 .|0.991;0.967;0.985 .|P;P;P .|0.57324 .|0.818;0.818;0.571 T|T 0.43393|0.43393 -0.9394|-0.9394 5|10 .|0.52906 .|T .|0.07 -5.281|-5.281 8.9397|8.9397 0.35722|0.35722 0.5511:0.0:0.0:0.4489|0.5511:0.0:0.0:0.4489 .|. .|348;348;409 .|G5E9N3;B4DKE1;Q6NUM9 .|.;.;RETST_HUMAN V|C 198|409;409;348 .|ENSP00000295802:Y409C;ENSP00000405040:Y348C .|ENSP00000263854:Y409C M|Y -|- 1|2 0|0 RETSAT|RETSAT 85425258|85425258 0.005000|0.005000 0.15991|0.15991 0.987000|0.987000 0.45799|0.45799 0.861000|0.861000 0.49209|0.49209 0.074000|0.074000 0.14662|0.14662 0.197000|0.197000 0.20387|0.20387 0.459000|0.459000 0.35465|0.35465 ATG|TAT TCGA-3A-A9IH-01A-12D-A397-08 RETSAT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252489.1 1 0 1 57 214 0 74 1 1 116 182 0 74 2 0 0 0 0 0 2 1 1.000000 57 211 0 72 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.047096 0 0.510000 1.830000 0.499796 0.800000 6.200000e-01 0.990000 0.810000 0.811984 0.800000 0 7.100000e-01 9.000000e-01 INPP4A 3631 broad.mit.edu 37 2 99163121 99163121 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr2:99163121G>A ENST00000523221.1 + 11 1127 c.1127G>A c.(1126-1128)cGc>cAc p.R376H INPP4A_ENST00000545415.1_Missense_Mutation_p.R376H|INPP4A_ENST00000409851.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409540.3_Missense_Mutation_p.R376H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.R376H|INPP4A_ENST00000074304.5_Missense_Mutation_p.R376H Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 43 GGAGGTCTCCGCAAAAAGCTG 0.458000 0 SO:0001583 missense ENST00000523221.1 0 1 hg19 CCDS46369.1 . . . . . . . . . . G 35 5.523740 0.96431 . . ENSG00000040933 ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221 T;T;T;T;T;T 0.37915 1.17;1.17;1.17;1.17;1.17;1.17 5.3 5.3 0.74995 . 0.000000 0.85682 D 0.000000 T 0.55768 0.1941 L 0.61387 1.9 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.997;0.997;0.999;0.999 T 0.43637 -0.9379 10 0.12430 T 0.62 -21.0946 18.117 0.89559 0.0:0.0:1.0:0.0 . 376;376;376;376 Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3 .;.;INP4A_HUMAN;. H 376 ENSP00000386704:R376H;ENSP00000386777:R376H;ENSP00000074304:R376H;ENSP00000442149:R376H;ENSP00000387294:R376H;ENSP00000427722:R376H ENSP00000074304:R376H R + 2 0 INPP4A 98529553 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.592000 0.98245 2.757000 0.94681 0.655000 0.94253 CGC TCGA-3A-A9IH-01A-12D-A397-08 INPP4A-009 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000376095.1 0 0 0 4 186 0 36 0 6.273457e-02 0 15 0 36 2 0 0 0 0 0 2 1 0.888755 4 184 0 35 2 0 0 0 0 0 2 -2.712395 1 1 120826 1 27 1 0 0 0 2.030307 0 0.510000 1.830000 0.494533 0.080000 2.000000e-02 0.190000 0.080000 0.098463 0.080000 0 5.000000e-02 1.400000e-01 GHRL 51738 broad.mit.edu 37 3 10331548 10331548 + Silent SNP C C T rs146899970 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:10331548C>T ENST00000335542.8 - 4 993 c.123G>A c.(121-123)tcG>tcA p.S41S GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449238.2_Silent_p.S28S|GHRL_ENST00000422159.1_Silent_p.S41S|GHRL_ENST00000450603.1_Silent_p.S41S|GHRL_ENST00000437422.2_Silent_p.S29S|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000457360.1_Silent_p.S41S|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000430179.1_Silent_p.S40S|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000429122.1_Silent_p.S41S|GHRL_ENST00000287656.7_Silent_p.S40S|GHRL_ENST00000449554.2_Silent_p.S40S Q9UBU3 GHRL_HUMAN ghrelin/obestatin prepropeptide 5 GTGGCTTCTTCGACTCCTTTC 0.572000 0 SO:0001819 synonymous_variant ENST00000335542.8 1 1 hg19 CCDS33700.1 TCGA-3A-A9IH-01A-12D-A397-08 GHRL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000339625.1 1 0 1 126 549 0 141 0 9.973731e-01 0 41 0 141 2 0 0 0 0 0 2 1 1.000000 126 542 1 138 17 0 0 0 0 0 2 -3.535820 1 1 121412 58 53 1 0 0 0 2.049854 0 0.510000 1.830000 0.499796 0.710000 6.000000e-01 0.830000 0.710000 0.719581 0.710000 0 6.500000e-01 7.800000e-01 EIF2B5 8893 broad.mit.edu 37 3 183860631 183860631 + Silent SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr3:183860631G>A ENST00000273783.3 + 11 1733 c.1611G>A c.(1609-1611)gaG>gaA p.E537E EIF2B5_ENST00000444495.1_Silent_p.E537E NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATTCTGAGGAGCCGGACAGCC 0.483000 0 SO:0001819 synonymous_variant ENST00000273783.3 1 1 hg19 CCDS3252.1 TCGA-3A-A9IH-01A-12D-A397-08 EIF2B5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346168.1 1 0 1 16 72 0 22 1 9.999949e-01 27 83 0 22 2 0 0 0 0 0 2 1 0.999962 16 72 0 22 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 0 0 2.049854 0 0.510000 1.830000 0.499796 0.700000 4.300000e-01 1.000000 1.000000 0.714134 0.700000 0 5.500000e-01 8.700000e-01 SPOCK3 50859 broad.mit.edu 37 4 167713399 167713399 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:167713399G>A ENST00000357154.3 - 8 777 c.640C>T c.(640-642)Cgg>Tgg p.R214W SPOCK3_ENST00000511269.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R118W|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R94W|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R163W|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R116W|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R214W|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R211W|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R211W|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R211W NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) AACCAGTCCCGCAATCTGTTT 0.393000 0 SO:0001583 missense ENST00000357154.3 1 1 hg19 CCDS54817.1 . . . . . . . . . . G 18.65 3.668665 0.67814 . . ENSG00000196104 ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403 T;T;T;T;T;T;T;T;T;T;T;T;T;D 0.88586 1.42;1.43;1.43;1.42;1.42;1.42;1.35;0.83;1.43;1.23;0.83;1.12;2.14;-2.4 5.33 3.57 0.40892 SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1); 0.124274 0.51477 N 0.000082 D 0.93501 0.7926 M 0.82193 2.58 0.50313 D 0.999869 D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D 0.87578 0.991;0.996;0.995;0.998;0.996;0.997;0.998 D 0.92483 0.5994 10 0.72032 D 0.01 -2.4622 8.3992 0.32574 0.0729:0.0:0.5389:0.3881 . 116;118;163;223;214;211;214 B4DGK5;F5H099;B4DHB4;B4DFW5;Q9BQ16-2;Q9BQ16-1;Q9BQ16 .;.;.;.;.;.;TICN3_HUMAN W 214;211;211;214;214;214;94;116;211;163;116;118;211;93 ENSP00000349677:R214W;ENSP00000350153:R211W;ENSP00000425570:R211W;ENSP00000420920:R214W;ENSP00000423421:R214W;ENSP00000423606:R214W;ENSP00000444789:R94W;ENSP00000426318:R116W;ENSP00000425502:R211W;ENSP00000411344:R163W;ENSP00000445430:R116W;ENSP00000438142:R118W;ENSP00000426177:R211W;ENSP00000423176:R93W ENSP00000349677:R214W R - 1 2 SPOCK3 167949974 0.995000 0.38212 0.833000 0.33012 0.952000 0.60782 1.388000 0.34442 0.714000 0.32081 0.563000 0.77884 CGG TCGA-3A-A9IH-01A-12D-A397-08 SPOCK3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364091.1 1 0 1 74 239 0 46 0 2.425404e-01 0 4 0 46 2 0 0 0 0 0 2 1 1.000000 73 238 0 46 2 0 0 0 0 0 2 -4.429371 1 1 121412 1 27 1 1 2 3 2.122969 0 0.510000 1.830000 0.512486 0.920000 7.500000e-01 1.000000 1.000000 0.922021 0.920000 1 8.300000e-01 1 HMGB2 3148 broad.mit.edu 37 4 174253329 174253329 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr4:174253329G>A ENST00000296503.5 - 5 1405 c.532C>T c.(532-534)Cca>Tca p.P178S RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Missense_Mutation_p.P178S|HMGB2_ENST00000438704.2_Missense_Mutation_p.P178S P26583 HMGB2_HUMAN high mobility group box 2 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) GAGCCTGTTGGCCTGCCAGGG 0.433000 0 SO:0001583 missense ENST00000296503.5 1 1 hg19 CCDS3816.1 . . . . . . . . . . G 12.47 1.946710 0.34377 . . ENSG00000164104 ENST00000296503;ENST00000446922;ENST00000438704 D;D;D 0.94758 -3.51;-3.51;-3.51 5.9 4.2 0.49525 . 0.105398 0.42682 N 0.000667 D 0.88340 0.6410 L 0.28192 0.835 0.54753 D 0.999982 B 0.12013 0.005 B 0.06405 0.002 T 0.81147 -0.1065 10 0.22109 T 0.4 . 9.8684 0.41160 0.2071:0.0:0.7929:0.0 . 178 P26583 HMGB2_HUMAN S 178 ENSP00000296503:P178S;ENSP00000393448:P178S;ENSP00000404912:P178S ENSP00000296503:P178S P - 1 0 HMGB2 174489904 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 5.668000 0.68074 0.841000 0.35020 -0.145000 0.13849 CCA TCGA-3A-A9IH-01A-12D-A397-08 HMGB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000362362.1 1 0 1 79 336 0 66 1 1 171 348 0 66 2 0 0 0 0 0 2 1 1.000000 78 334 0 64 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 1 2 3 2.122969 0 0.510000 1.830000 0.512486 0.740000 6.000000e-01 0.930000 0.750000 0.756823 0.740000 0 6.700000e-01 8.300000e-01 APC 324 broad.mit.edu 37 5 112170693 112170693 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:112170693G>A ENST00000457016.1 + 15 2169 c.1789G>A c.(1789-1791)Gca>Aca p.A597T APC_ENST00000508376.2_Missense_Mutation_p.A597T|APC_ENST00000257430.4_Missense_Mutation_p.A597T|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli p.?(1) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) GAATTTGTCAGCACATTGCAC 0.398000 12 D, Mis, N, F, S colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) yes Rec yes Adenomatous polyposis coli; Turcot syndrome 5 5q21 324 adenomatous polyposis of the colon gene E, M, O 1 Unknown(1) SO:0001583 missense Familial Cancer Database Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s, ENST00000457016.1 0 1 hg19 CCDS4107.1 . . . . . . . . . . G 36 5.859311 0.97036 . . ENSG00000134982 ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211 D;D;D;D;D 0.95171 -2.91;-3.63;-2.91;-2.91;-3.09 5.93 5.93 0.95920 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.97451 0.9166 M 0.81942 2.565 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.76071 0.987;0.987 D 0.97492 1.0054 10 0.87932 D 0 -19.1568 20.3409 0.98764 0.0:0.0:1.0:0.0 . 599;597 Q4LE70;P25054 .;APC_HUMAN T 597;579;597;597;597 ENSP00000413133:A597T;ENSP00000423224:A579T;ENSP00000257430:A597T;ENSP00000427089:A597T;ENSP00000423828:A597T ENSP00000257430:A597T A + 1 0 APC 112198592 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.476000 0.97823 2.814000 0.96858 0.655000 0.94253 GCA TCGA-3A-A9IH-01A-12D-A397-08 APC-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250738.2 0 0 0 5 410 0 58 0 3.434690e-03 0 6 0 58 2 0 0 0 0 0 2 1 0.937104 5 408 0 57 2 0 0 0 0 0 2 -2.916433 1 1 0 0 1 1 2 3 2.137110 0 0.510000 1.830000 0.516169 0.050000 1.000000e-02 1.000000 0.050000 0.092749 0.050000 0 2.000000e-02 9.000000e-02 PCDHGA2 56113 broad.mit.edu 37 5 140719009 140719009 + Silent SNP G G A rs151023570 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:140719009G>A ENST00000394576.2 + 1 471 c.471G>A c.(469-471)gcG>gcA p.A157A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAGAATGCGCATGATGCAG 0.498000 0 SO:0001819 synonymous_variant ENST00000394576.2 1 1 hg19 CCDS47289.1 TCGA-3A-A9IH-01A-12D-A397-08 PCDHGA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374738.1 0 0 0 13 482 0 119 0 4.856798e-03 0 4 0 119 2 0 0 0 0 0 2 1 0.999525 13 479 0 117 2 0 0 0 0 0 2 -2.800669 1 1 0 0 1 1 2 3 2.137110 0 0.510000 1.830000 0.516169 0.100000 5.000000e-02 1.000000 0.100000 0.145395 0.100000 0 7.000000e-02 1.500000e-01 ATG10 83734 broad.mit.edu 37 5 81474399 81474399 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr5:81474399C>T ENST00000282185.3 + 5 740 c.446C>T c.(445-447)aCg>aTg p.T149M ATG10_ENST00000458350.3_Missense_Mutation_p.T149M|ATG10_ENST00000513634.1_Missense_Mutation_p.T149M|ATG10_ENST00000514253.2_3'UTR NM_031482.4 NP_113670.1 Q9H0Y0 ATG10_HUMAN autophagy related 10 9 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) GACACTATTACGCAACAGGTT 0.433000 0 SO:0001583 missense ENST00000282185.3 0 1 hg19 CCDS4057.1 . . . . . . . . . . C 14.09 2.431692 0.43122 . . ENSG00000152348 ENST00000282185;ENST00000458350;ENST00000513634 T;T;T 0.55413 1.58;1.58;0.52 5.37 3.55 0.40652 Autophagy-related protein 3 (1); 0.159978 0.53938 D 0.000049 T 0.74481 0.3722 M 0.90145 3.09 0.42169 D 0.991636 D;D 0.89917 1.0;0.996 D;P 0.75484 0.986;0.863 T 0.77672 -0.2500 10 0.87932 D 0 -3.6582 10.2806 0.43537 0.0:0.7898:0.1361:0.0741 . 149;149 D6RDX3;Q9H0Y0 .;ATG10_HUMAN M 149 ENSP00000282185:T149M;ENSP00000404938:T149M;ENSP00000425225:T149M ENSP00000282185:T149M T + 2 0 ATG10 81510155 0.996000 0.38824 0.685000 0.30070 0.300000 0.27592 3.737000 0.55060 0.725000 0.32318 0.305000 0.20034 ACG TCGA-3A-A9IH-01A-12D-A397-08 ATG10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239252.2 0 0 0 7 243 0 36 0 2.138463e-01 0 27 0 36 2 0 0 0 0 0 2 1 0.980187 7 240 0 36 2 0 0 0 0 0 2 -3.539786 1 1 121412 11 43 1 1 2 3 2.137110 0 0.510000 1.830000 0.516169 0.110000 4.000000e-02 1.000000 0.110000 0.158813 0.110000 0 7.000000e-02 1.800000e-01 T 6862 broad.mit.edu 37 6 166572035 166572035 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:166572035G>A ENST00000296946.2 - 9 1544 c.1076C>T c.(1075-1077)aCc>aTc p.T359I T_ENST00000366871.3_Missense_Mutation_p.T301I NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) GGAGCCCGGGGTGACGGCGCC 0.687000 Chordoma, Familial Clustering of 0 SO:0001583 missense Familial Cancer Database ENST00000296946.2 1 1 hg19 CCDS5290.1 . . . . . . . . . . G 12.59 1.983254 0.35036 . . ENSG00000164458 ENST00000366876;ENST00000296946;ENST00000366871 D;D 0.83914 -1.78;-1.78 4.92 4.03 0.46877 . 0.368313 0.26109 N 0.026292 T 0.71736 0.3375 M 0.65975 2.015 0.48087 D 0.999585 P;B;P 0.36392 0.551;0.005;0.551 B;B;B 0.36885 0.235;0.017;0.235 T 0.71248 -0.4649 10 0.23891 T 0.37 . 12.083 0.53682 0.084:0.0:0.916:0.0 . 301;359;301 E7ERD6;O15178;Q4KMP4 .;BRAC_HUMAN;. I 359;359;301 ENSP00000296946:T359I;ENSP00000355836:T301I ENSP00000296946:T359I T - 2 0 T 166492025 1.000000 0.71417 0.002000 0.10522 0.387000 0.30353 5.408000 0.66368 2.406000 0.81754 0.655000 0.94253 ACC TCGA-3A-A9IH-01A-12D-A397-08 T-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043037.2 1 0 0 22 41 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 1.000000 22 41 0 19 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.613336 1 0.510000 1.830000 0.342282 0.880000 6.400000e-01 1.000000 0.990000 0.873415 0.880000 1 7.700000e-01 9.700000e-01 HIST1H2BE 8344 broad.mit.edu 37 6 26184241 26184241 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:26184241G>A ENST00000356530.3 + 1 284 c.218G>A c.(217-219)cGc>cAc p.R73H NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 4 ATCTTCGAGCGCATCGCCGGC 0.597000 0 SO:0001583 missense ENST00000356530.3 0 1 hg19 CCDS4588.1 . . . . . . . . . . . 14.91 2.676040 0.47886 . . ENSG00000197697 ENST00000356530 T 0.69561 -0.41 4.96 4.96 0.65561 . 0.000000 0.34555 U 0.003862 T 0.73560 0.3602 . . . 0.52501 D 0.999953 . . . . . . T 0.74734 -0.3565 7 0.49607 T 0.09 . 17.6163 0.88068 0.0:0.0:1.0:0.0 . . . . H 73 ENSP00000348924:R73H ENSP00000348924:R73H R + 2 0 HIST1H2BE 26292220 1.000000 0.71417 1.000000 0.80357 0.091000 0.18340 7.562000 0.82300 2.479000 0.83701 0.537000 0.68136 CGC TCGA-3A-A9IH-01A-12D-A397-08 HIST1H2BE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040090.1 0 0 0 5 547 1 175 0 1.361073e-04 0 2 1 175 2 0 0 0 0 0 2 0 0.065207 5 538 1 177 12 0 0 0 0 0 2 -1.789810 0 1 0 0 1 0 1 1 1.599230 1 0.510000 1.830000 0.344525 0.020000 0 0.060000 0.030000 0.031628 0.020000 0 1.000000e-02 4.000000e-02 NOTCH4 4855 broad.mit.edu 37 6 32171920 32171920 + Missense_Mutation SNP G G C TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr6:32171920G>C ENST00000375023.3 - 19 3250 c.3112C>G c.(3112-3114)Cac>Gac p.H1038D NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 100 TCACCTGTGTGTCCAGGCAGA 0.622000 0 SO:0001583 missense ENST00000375023.3 1 1 hg19 CCDS34420.1 . . . . . . . . . . G 13.85 2.359258 0.41801 . . ENSG00000204301 ENST00000375023 D 0.87334 -2.24 4.77 0.511 0.16989 EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1); 0.469254 0.18037 N 0.153753 T 0.65386 0.2686 L 0.41492 1.28 0.80722 D 1 B 0.31599 0.33 B 0.19148 0.024 T 0.62595 -0.6821 10 0.72032 D 0.01 . 6.776 0.23621 0.5687:0.0:0.4313:0.0 . 1038 Q99466 NOTC4_HUMAN D 1038 ENSP00000364163:H1038D ENSP00000364163:H1038D H - 1 0 NOTCH4 32279898 1.000000 0.71417 0.997000 0.53966 0.984000 0.73092 3.363000 0.52321 0.202000 0.20498 0.561000 0.74099 CAC TCGA-3A-A9IH-01A-12D-A397-08 NOTCH4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076045.2 1 0 1 32 62 0 27 0 6.621619e-01 0 6 0 27 2 0 0 0 0 0 2 1 1.000000 32 62 0 25 2 0 0 0 0 0 2 -20.000000 1 1 0 0 1 0 1 1 1.616394 1 0.510000 1.830000 0.344525 0.900000 6.900000e-01 1.000000 1.000000 0.894196 0.900000 1 8.000000e-01 9.800000e-01 IGF2BP3 10643 broad.mit.edu 37 7 23458413 23458413 + Silent SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:23458413C>T ENST00000258729.3 - 3 623 c.267G>A c.(265-267)ccG>ccA p.P89P IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 34 GTAAATGAGGCGGGATATTTC 0.313000 0 SO:0001819 synonymous_variant ENST00000258729.3 1 1 hg19 CCDS5382.1 TCGA-3A-A9IH-01A-12D-A397-08 IGF2BP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250243.2 1 0 1 19 112 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 0.999993 19 110 0 27 2 0 0 0 0 0 2 -11.813570 1 1 0 0 1 0 0 0 2.046661 0 0.510000 1.830000 0.499796 0.560000 3.500000e-01 0.800000 0.550000 0.573266 0.560000 0 4.500000e-01 6.900000e-01 ZNF804B 219578 broad.mit.edu 37 7 88965553 88965553 + Missense_Mutation SNP C C T rs141579525 byFrequency TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr7:88965553C>T ENST00000333190.4 + 4 3866 c.3257C>T c.(3256-3258)aCt>aTt p.T1086I NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B p.T1086N(1) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACTGGTGTGACTGATTCAACA 0.353000 HNSCC(36;0.09) 1 Substitution - Missense(1) SO:0001583 missense ENST00000333190.4 1 0 hg19 CCDS5613.1 . . . . . . . . . . C 5.703 0.314232 0.10789 0.001589 0.004303 ENSG00000182348 ENST00000333190 T 0.05025 3.51 4.77 1.94 0.25998 . 0.887861 0.09842 N 0.748721 T 0.03695 0.0105 N 0.14661 0.345 0.09310 N 1 B 0.21381 0.055 B 0.18263 0.021 T 0.43605 -0.9381 10 0.37606 T 0.19 0.0263 3.5384 0.07802 0.1322:0.5672:0.1461:0.1545 . 1086 A4D1E1 Z804B_HUMAN I 1086 ENSP00000329638:T1086I ENSP00000329638:T1086I T + 2 0 ZNF804B 88803489 0.102000 0.21896 0.038000 0.18304 0.675000 0.39556 0.870000 0.28010 0.702000 0.31825 0.655000 0.94253 ACT TCGA-3A-A9IH-01A-12D-A397-08 ZNF804B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253683.2 1 0 1 76 210 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 1.000000 75 208 0 31 2 0 0 0 0 0 2 -2.232032 0 1 121412 353 56 1 0 0 0 2.058970 0 0.510000 1.830000 0.504950 0.990000 8.300000e-01 1.000000 1.000000 0.974809 0.990000 1 9.200000e-01 1 ST18 9705 broad.mit.edu 37 8 53045690 53045690 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:53045690C>T ENST00000276480.7 - 21 3054 c.2371G>A c.(2371-2373)Gga>Aga p.G791R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18, zinc finger 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGAGGGCATCCGGACAAGCTG 0.463000 0 SO:0001583 missense ENST00000276480.7 1 1 hg19 CCDS6149.1 . . . . . . . . . . C 33 5.217661 0.95104 . . ENSG00000147488 ENST00000276480 T 0.69685 -0.42 5.91 5.91 0.95273 . 0.000000 0.85682 D 0.000000 D 0.86142 0.5862 M 0.90650 3.135 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.87848 0.2656 10 0.87932 D 0 -21.3142 20.2985 0.98592 0.0:1.0:0.0:0.0 . 791 O60284 ST18_HUMAN R 791 ENSP00000276480:G791R ENSP00000276480:G791R G - 1 0 ST18 53208243 1.000000 0.71417 0.992000 0.48379 0.777000 0.43975 7.818000 0.86416 2.793000 0.96121 0.655000 0.94253 GGA TCGA-3A-A9IH-01A-12D-A397-08 ST18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377867.1 1 0 1 128 419 0 104 0 0 0 1 0 104 2 0 0 0 0 0 2 1 1.000000 126 414 0 103 2 0 0 0 0 0 2 -4.171717 1 1 0 0 1 0 0 0 2.040484 0 0.510000 1.830000 0.497178 0.880000 7.500000e-01 1.000000 1.000000 0.894026 0.880000 1 8.200000e-01 9.600000e-01 KCNB2 9312 broad.mit.edu 37 8 73848252 73848252 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:73848252C>T ENST00000523207.1 + 3 1250 c.662C>T c.(661-663)aCg>aTg p.T221M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 85 Breast(64;0.137) Epithelial(68;0.105) Dalfampridine(DB06637) CTGCAGGAAACGGACGAATTT 0.473000 0 SO:0001583 missense ENST00000523207.1 0 1 hg19 CCDS6209.1 . . . . . . . . . . C 3.822 -0.037564 0.07497 . . ENSG00000182674 ENST00000523207 D 0.97480 -4.4 5.93 -10.1 0.00402 . 1.616920 0.03742 N 0.255128 D 0.90027 0.6886 N 0.11756 0.17 0.09310 N 1 B 0.09022 0.002 B 0.04013 0.001 T 0.81671 -0.0827 10 0.44086 T 0.13 . 7.1553 0.25635 0.2329:0.3187:0.0:0.4484 . 221 Q92953 KCNB2_HUMAN M 221 ENSP00000430846:T221M ENSP00000430846:T221M T + 2 0 KCNB2 74010806 0.000000 0.05858 0.000000 0.03702 0.063000 0.16089 -0.989000 0.03736 -1.915000 0.01077 -0.274000 0.10170 ACG TCGA-3A-A9IH-01A-12D-A397-08 KCNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378998.1 0 0 0 11 378 0 60 0 1.012619e-03 0 2 0 60 2 0 0 0 0 0 2 1 0.998292 11 374 0 60 2 0 0 0 0 0 2 -2.987159 1 1 121412 7 42 1 0 0 0 2.040484 0 0.510000 1.830000 0.497178 0.100000 5.000000e-02 0.190000 0.110000 0.116977 0.100000 0 7.000000e-02 1.500000e-01 CDH17 1015 broad.mit.edu 37 8 95178163 95178163 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr8:95178163C>T ENST00000027335.3 - 10 1232 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K CDH17_ENST00000441892.2_Missense_Mutation_p.E156K|CDH17_ENST00000450165.2_Missense_Mutation_p.E370K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCAGTATTTTCTTCATCCCTG 0.418000 0 SO:0001583 missense ENST00000027335.3 0 1 hg19 CCDS6260.1 . . . . . . . . . . C 8.643 0.896470 0.17686 . . ENSG00000079112 ENST00000027335;ENST00000441892;ENST00000450165 T;T;T 0.59502 0.26;4.6;0.26 5.89 0.741 0.18336 Cadherin (4);Cadherin-like (1); 0.629868 0.14169 N 0.336864 T 0.44138 0.1279 L 0.56124 1.755 0.39255 D 0.964112 B;B 0.28026 0.198;0.019 B;B 0.24269 0.05;0.052 T 0.22556 -1.0213 10 0.13470 T 0.59 -9.1691 7.0442 0.25037 0.0:0.5545:0.2333:0.2122 . 156;370 E7EN24;Q12864 .;CAD17_HUMAN K 370;156;370 ENSP00000027335:E370K;ENSP00000392811:E156K;ENSP00000401468:E370K ENSP00000027335:E370K E - 1 0 CDH17 95247339 0.655000 0.27376 0.866000 0.34008 0.051000 0.14879 0.052000 0.14163 0.391000 0.25143 0.561000 0.74099 GAA TCGA-3A-A9IH-01A-12D-A397-08 CDH17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378560.1 0 0 0 4 241 0 34 0 2.687242e-02 0 12 0 34 2 0 0 0 0 0 2 0 0.887207 1 240 0 34 2 0 0 0 0 0 2 -5.245192 1 0 0 0 1 0 0 0 2.040484 0 0.510000 1.830000 0.497178 0.060000 1.000000e-02 0.150000 0.060000 0.077009 0.060000 0 3.000000e-02 1.100000e-01 OR13F1 138805 broad.mit.edu 37 9 107267379 107267379 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:107267379C>T ENST00000334726.2 + 1 925 c.836C>T c.(835-837)gCc>gTc p.A279V NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 31 TTGGTGTATGCCGGACAAACC 0.418000 0 SO:0001583 missense ENST00000334726.2 0 1 hg19 CCDS35087.1 . . . . . . . . . . C 8.314 0.822838 0.16678 . . ENSG00000186881 ENST00000334726 T 0.00063 8.78 4.3 2.44 0.29823 GPCR, rhodopsin-like superfamily (1); 1.231740 0.05909 N 0.631330 T 0.00210 0.0006 L 0.45137 1.4 0.09310 N 1 B 0.18013 0.025 B 0.26770 0.073 T 0.49418 -0.8942 10 0.72032 D 0.01 . 12.8128 0.57649 0.0:0.6638:0.3362:0.0 . 279 Q8NGS4 O13F1_HUMAN V 279 ENSP00000334452:A279V ENSP00000334452:A279V A + 2 0 OR13F1 106307200 0.000000 0.05858 0.501000 0.27601 0.197000 0.23852 0.950000 0.29122 0.740000 0.32651 0.655000 0.94253 GCC TCGA-3A-A9IH-01A-12D-A397-08 OR13F1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053475.1 0 0 0 6 358 0 68 0 0 0 0 68 2 0 0 0 0 0 2 1 0.964390 6 355 0 67 2 0 0 0 0 0 2 -2.515882 1 1 0 0 1 0 0 0 2.039692 0 0.510000 1.830000 0.497178 0.060000 2.000000e-02 0.130000 0.060000 0.072905 0.060000 0 4.000000e-02 1.000000e-01 GOLGA1 2800 broad.mit.edu 37 9 127651788 127651788 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:127651788C>T ENST00000373555.4 - 17 1858 c.1525G>A c.(1525-1527)Gag>Aag p.E509K RNU4-82P_ENST00000362443.1_RNA NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 p.E509K(1) 20 TGTTCCTTCTCGTCTATTATG 0.512000 1 Substitution - Missense(1) SO:0001583 missense ENST00000373555.4 1 1 hg19 CCDS6860.1 . . . . . . . . . . C 14.96 2.691632 0.48097 . . ENSG00000136935 ENST00000373555 T 0.35789 1.29 5.22 3.38 0.38709 . 0.000000 0.47093 D 0.000241 T 0.28234 0.0697 L 0.47716 1.5 0.29653 N 0.843775 D 0.58620 0.983 B 0.39299 0.296 T 0.16012 -1.0417 10 0.31617 T 0.26 -1.372 11.536 0.50636 0.0:0.8667:0.0:0.1333 . 509 Q92805 GOGA1_HUMAN K 509 ENSP00000362656:E509K ENSP00000362656:E509K E - 1 0 GOLGA1 126691609 0.505000 0.26131 0.581000 0.28614 0.206000 0.24218 0.853000 0.27777 0.698000 0.31739 0.448000 0.29417 GAG TCGA-3A-A9IH-01A-12D-A397-08 GOLGA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054049.1 1 0 1 89 451 0 139 1 9.667841e-01 4 26 0 139 2 0 0 0 0 0 2 1 1.000000 89 448 0 134 2 0 0 0 0 0 2 -2.888403 1 1 121412 2 35 1 0 0 0 2.039692 0 0.510000 1.830000 0.497178 0.620000 5.100000e-01 0.750000 0.630000 0.633391 0.620000 0 5.600000e-01 6.900000e-01 AQP7 364 broad.mit.edu 37 9 33386077 33386077 + Missense_Mutation SNP C C T TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chr9:33386077C>T ENST00000537089.1 - 5 565 c.247G>A c.(247-249)Gag>Aag p.E83K AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K O14520 AQP7_HUMAN aquaporin 7 17 LUSC - Lung squamous cell carcinoma(29;0.00788) CCACTGACCTCATTCAGGAAG 0.592000 0 SO:0001583 missense ENST00000537089.1 0 1 hg19 . . . . . . . . . . N 24.0 4.485614 0.84854 . . ENSG00000165269 ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503 T;T;T;T;T;T;T;T;T 0.29917 1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55 3.98 3.98 0.46160 Aquaporin-like (2); 0.106561 0.64402 D 0.000003 T 0.67618 0.2912 H 0.98238 4.18 0.44789 D 0.997793 P;D;P;D 0.63046 0.9;0.992;0.948;0.982 P;D;P;P 0.70227 0.643;0.968;0.771;0.752 T 0.78526 -0.2170 10 0.87932 D 0 -26.5908 11.903 0.52694 0.0:1.0:0.0:0.0 . 174;175;118;175 Q5T5M0;B7Z4U2;Q6P5T0;O14520 .;.;.;AQP7_HUMAN K 83;174;43;175;118;83;174;175;111 ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K ENSP00000297988:E175K E - 1 0 AQP7 33376077 0.998000 0.40836 0.999000 0.59377 0.984000 0.73092 1.723000 0.38053 2.507000 0.84556 0.645000 0.84053 GAG TCGA-3A-A9IH-01A-12D-A397-08 AQP7-202 KNOWN basic protein_coding protein_coding 0 0 0 7 188 0 44 0 1.667886e-02 0 5 0 44 2 0 0 0 0 0 2 1 0.978953 6 183 0 44 2 0 0 0 0 0 2 -2.505617 1 1 0 0 1 0 0 0 2.039692 0 0.510000 1.830000 0.497178 0.140000 6.000000e-02 0.260000 0.140000 0.154386 0.140000 0 9.000000e-02 2.000000e-01 NRK 203447 broad.mit.edu 37 X 105183982 105183982 + Missense_Mutation SNP A A G TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:105183982A>G ENST00000243300.9 + 23 4219 c.3916A>G c.(3916-3918)Aaa>Gaa p.K1306E NRK_ENST00000428173.2_Missense_Mutation_p.K1307E NM_198465.2 NP_940867.2 Q7Z2Y5 NRK_HUMAN Nik related kinase 76 GGAAGCCTGCAAAGCTATTGA 0.388000 HNSCC(51;0.14) 0 SO:0001583 missense ENST00000243300.9 0 1 hg19 . . . . . . . . . . A 13.34 2.206676 0.39003 . . ENSG00000123572 ENST00000243300;ENST00000428173 T;T 0.04758 3.56;3.56 4.96 4.96 0.65561 Citron-like (2); 0.000000 0.49916 D 0.000135 T 0.04815 0.0130 L 0.36672 1.1 0.80722 D 1 B;P 0.42078 0.372;0.77 B;B 0.40782 0.053;0.34 T 0.38908 -0.9639 10 0.54805 T 0.06 . 5.4621 0.16622 0.8038:0.0:0.1962:0.0 . 974;1306 Q7Z2Y5-2;Q7Z2Y5 .;NRK_HUMAN E 1306;1307 ENSP00000434830:K1306E;ENSP00000438378:K1307E ENSP00000434830:K1306E K + 1 0 NRK 105070638 1.000000 0.71417 1.000000 0.80357 0.690000 0.40134 3.190000 0.50973 1.943000 0.56356 0.441000 0.28932 AAA TCGA-3A-A9IH-01A-12D-A397-08 NRK-001 KNOWN non_canonical_conserved|basic|appris_candidate protein_coding protein_coding OTTHUMT00000106480.6 1 0 0 4 55 0 9 0 2.203420e-02 0 3 0 9 2 0 0 0 0 0 2 1 0.892714 4 55 0 9 2 0 0 0 0 0 2 -10.601380 1 1 0 0 1 0 1 1 0.510000 1.830000 0.510000 0.290000 1.000000e-01 0.600000 0.260000 0.316271 0.290000 0 1.700000e-01 4.400000e-01 USP26 83844 broad.mit.edu 37 X 132159668 132159668 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:132159668G>A ENST00000511190.1 - 6 3050 c.2581C>T c.(2581-2583)Cgg>Tgg p.R861W USP26_ENST00000406273.1_Missense_Mutation_p.R861W|USP26_ENST00000370832.1_Missense_Mutation_p.R861W NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 60 Acute lymphoblastic leukemia(192;0.000127) CCTAACACCCGCATATCATCG 0.438000 NSCLC(104;342 1621 36940 47097 52632) 0 SO:0001583 missense ENST00000511190.1 0 1 hg19 CCDS14635.1 . . . . . . . . . . G 15.47 2.844003 0.51164 . . ENSG00000134588 ENST00000370832;ENST00000511190;ENST00000406273 T;T;T 0.33216 1.42;1.42;1.42 3.91 1.06 0.20224 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 1.646050 0.04079 N 0.309366 T 0.28200 0.0696 N 0.14661 0.345 0.09310 N 1 D 0.56746 0.977 P 0.51453 0.67 T 0.21827 -1.0234 10 0.66056 D 0.02 5.8655 6.3523 0.21383 0.0:0.3293:0.3298:0.341 . 861 Q9BXU7 UBP26_HUMAN W 861 ENSP00000359869:R861W;ENSP00000423390:R861W;ENSP00000384360:R861W ENSP00000359869:R861W R - 1 2 USP26 131987334 0.004000 0.15560 0.000000 0.03702 0.226000 0.24999 0.920000 0.28705 0.086000 0.17137 -0.324000 0.08512 CGG TCGA-3A-A9IH-01A-12D-A397-08 USP26-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359441.1 0 0 0 5 340 1 54 0 0 0 1 54 2 0 0 0 0 0 2 0 0.000913 5 336 1 50 21 0 0 0 0 0 2 -2.441146 0 1 121400 1 38 1 0 1 1 0.510000 1.830000 0.510000 0.050000 1.000000e-02 0.130000 0.060000 0.067586 0.050000 0 3.000000e-02 9.000000e-02 DMD 1756 broad.mit.edu 37 X 32591647 32591647 + Splice_Site SNP G G A rs140919039 TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:32591647G>A ENST00000357033.4 - 15 2018 c.1812C>T c.(1810-1812)gcC>gcT p.A604A DMD_ENST00000288447.4_Splice_Site_p.A596A|DMD_ENST00000378677.2_Splice_Site_p.A600A NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAGTACATACGGCCAGTTTTT 0.308000 0 SO:0001630 splice_region_variant ENST00000357033.4 1 0 hg19 CCDS14233.1 TCGA-3A-A9IH-01A-12D-A397-08 DMD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056182.2 1 0 1 72 207 0 37 0 0 0 1 0 37 2 0 0 0 0 0 2 1 1.000000 72 205 0 37 2 0 0 0 0 0 2 -3.316126 1 1 121382 41 46 1 0 1 1 0.510000 1.830000 0.510000 0.990000 8.100000e-01 1.000000 1.000000 0.966489 0.990000 1 9.000000e-01 1 ZXDB 158586 broad.mit.edu 37 X 57619818 57619818 + Missense_Mutation SNP G G A TCGA-3A-A9IH-01A-12D-A397-08 TCGA-3A-A9IH-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e796e7c6-8b2b-41ac-98ec-f9e0f2912ceb e7c1d24a-f6f5-4a28-ac25-d549fcac82ff g.chrX:57619818G>A ENST00000374888.1 + 1 1550 c.1337G>A c.(1336-1338)cGg>cAg p.R446Q NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 27 ATTCACCTGCGGAGTCACACC 0.488000 0 SO:0001583 missense ENST00000374888.1 1 1 hg19 CCDS35313.1 . . . . . . . . . . . 17.27 3.346960 0.61183 . . ENSG00000198455 ENST00000374888 T 0.18810 2.19 3.64 2.77 0.32553 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.35393 0.0930 L 0.52126 1.63 0.52501 D 0.999956 D 0.76494 0.999 D 0.80764 0.994 T 0.05632 -1.0873 10 0.87932 D 0 . 8.2851 0.31924 0.1245:0.0:0.8755:0.0 . 446 P98169 ZXDB_HUMAN Q 446 ENSP00000364023:R446Q ENSP00000364023:R446Q R + 2 0 ZXDB 57636543 1.000000 0.71417 0.998000 0.56505 0.771000 0.43674 8.599000 0.90856 0.714000 0.32081 0.483000 0.47432 CGG TCGA-3A-A9IH-01A-12D-A397-08 ZXDB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056922.1 1 0 0 109 325 0 107 0 8.040892e-01 0 11 0 107 2 0 0 0 0 0 2 1 1.000000 105 307 0 108 2 0 0 0 0 0 2 -5.211927 1 1 0 0 1 0 1 1 0.510000 1.830000 0.510000 0.970000 8.200000e-01 1.000000 1.000000 0.960536 0.970000 1 9.000000e-01 1