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 TP53 7157 broad.mit.edu 37 17 7579518 7579519 + Frame_Shift_Ins INS - - TT TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 - TT - - Valid Somatic Phase_I WXS targeted Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr17:7579518_7579519insTT ENST00000269305.4 - 4 357_358 c.168_169insAA c.(166-171)gaagacfs p.D57fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs 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.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GGACCTGGGTCTTCAGTGAACC 0.599000 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 18 Whole gene deletion(8)|Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - coding silent(1)|Deletion - In frame(1) SO:0001589 frameshift_variant 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 0 1 hg19 CCDS11118.1 TCGA-IB-7886-01A-11D-2154-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 429 1132 0 220 0 9.999797e-01 0 43 0 220 2 1 1 225 587 0 642 2 1 1.000000 450 1128 0 221 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 2 2 1.766506 1 0.510000 2.620000 0.510000 0.990000 0.980000 1.000000 1.000000 0.999314 0.990000 1 0.990000 1.000000 SMAD4 4089 broad.mit.edu 37 18 48593481 48593482 + Frame_Shift_Ins INS - - T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 - T - - Valid Somatic Phase_I WXS targeted Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr18:48593481_48593482insT ENST00000342988.3 + 10 1770_1771 c.1232_1233insT c.(1231-1236)agttacfs p.Y412fs SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.Y316fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.?(2) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) TTTGTACAGAGTTACTACTTAG 0.426000 38 Whole gene deletion(36)|Unknown(2) SO:0001589 frameshift_variant ENST00000342988.3 0 1 hg19 CCDS11950.1 TCGA-IB-7886-01A-11D-2154-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 1 0 0 92 321 0 57 0 9.983094e-01 0 36 0 57 2 1 1 162 583 0 1131 2 1 1.000000 94 320 0 57 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 1.341805 1 0.510000 2.620000 0.351165 0.650000 0.540000 0.770000 0.660000 0.660714 0.650000 0 0.590000 0.720000 SORCS3 22986 broad.mit.edu 37 10 106918737 106918737 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:106918737C>A ENST00000369701.3 + 11 1944 c.1717C>A c.(1717-1719)Ctt>Att p.L573I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) AGCCCCAGGACTTGTGGTGGC 0.433000 NSCLC(116;1497 1690 7108 13108 14106) 0 SO:0001583 missense ENST00000369701.3 1 1 hg19 CCDS7558.1 . . . . . . . . . . C 10.67 1.415625 0.25552 . . ENSG00000156395 ENST00000369701;ENST00000393176 T;T 0.57273 0.41;0.41 5.77 3.92 0.45320 VPS10 (1); 0.125004 0.56097 D 0.000037 T 0.30479 0.0766 N 0.10664 0.02 0.45216 D 0.998226 B 0.16166 0.016 B 0.18263 0.021 T 0.05402 -1.0887 9 . . . . 12.4007 0.55412 0.0:0.8641:0.0:0.1359 . 573 Q9UPU3 SORC3_HUMAN I 573;18 ENSP00000358715:L573I;ENSP00000376876:L18I . L + 1 0 SORCS3 106908727 0.820000 0.29190 0.995000 0.50966 0.999000 0.98932 1.484000 0.35508 0.904000 0.36572 0.650000 0.86243 CTT TCGA-IB-7886-01A-11D-2154-08 SORCS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050221.1 1 0 1 67 293 0 40 0 0 0 0 40 2 0 0 0 0 0 2 1 1.000000 67 288 0 40 2 0 0 0 0 40 2 -20.000000 1 1 0 0 1 1 3 4 2.240689 1 0.510000 2.620000 0.617337 0.970000 0.750000 1.000000 1.000000 0.941185 0.970000 1 0.850000 1.000000 SLC18A2 6571 broad.mit.edu 37 10 119029974 119029974 + Splice_Site SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:119029974G>T ENST00000298472.5 + 15 1583 c.1440G>T c.(1438-1440)atG>atT p.M480I SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 29 Colorectal(252;0.19) Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844) AAGAAAAAATGGTAAGAAAAA 0.363000 0 SO:0001630 splice_region_variant ENST00000298472.5 1 0 hg19 CCDS7599.1 . . . . . . . . . . G 13.15 2.150787 0.37923 . . ENSG00000165646 ENST00000298472 T 0.03524 3.9 5.77 5.77 0.91146 . 0.041993 0.85682 D 0.000000 T 0.04227 0.0117 N 0.17723 0.515 0.54753 D 0.99998 B 0.02656 0.0 B 0.06405 0.002 T 0.53683 -0.8404 10 0.36615 T 0.2 -29.9914 19.9818 0.97329 0.0:0.0:1.0:0.0 . 480 Q05940 VMAT2_HUMAN I 480 ENSP00000298472:M480I ENSP00000298472:M480I M + 3 0 SLC18A2 119019964 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 4.576000 0.60915 2.717000 0.92951 0.462000 0.41574 ATG TCGA-IB-7886-01A-11D-2154-08 SLC18A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050563.1 0 0 1 70 341 0 50 0 5.833277e-01 0 11 0 50 2 0 0 0 0 0 2 1 1.000000 70 338 0 49 2 0 0 0 0 50 2 -2.910638 1 1 0 0 1 1 3 4 2.240689 1 0.510000 2.620000 0.617337 0.890000 0.690000 1.000000 1.000000 0.892483 0.890000 1 0.780000 1.000000 ANXA7 310 broad.mit.edu 37 10 75156930 75156930 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr10:75156930G>A ENST00000372921.5 - 4 418 c.362C>T c.(361-363)cCa>cTa p.P121L ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 26 Prostate(51;0.0119) ACCAGGTAGTGGAACCTGTGC 0.453000 0 SO:0001583 missense ENST00000372921.5 1 1 hg19 CCDS7325.1 . . . . . . . . . . G 14.79 2.641575 0.47153 . . ENSG00000138279 ENST00000372921;ENST00000372919;ENST00000394847 T;T 0.02606 4.23;4.4 5.48 4.46 0.54185 . 1.044460 0.07552 N 0.915625 T 0.08582 0.0213 L 0.32530 0.975 0.80722 D 1 D;D;P 0.69078 0.975;0.997;0.935 P;P;P 0.61397 0.575;0.888;0.476 T 0.29305 -1.0016 10 0.49607 T 0.09 . 12.7479 0.57291 0.0:0.0:0.801:0.199 . 48;121;121 B4DWU2;P20073-2;P20073 .;.;ANXA7_HUMAN L 121 ENSP00000362012:P121L;ENSP00000362010:P121L ENSP00000362010:P121L P - 2 0 ANXA7 74826936 1.000000 0.71417 0.968000 0.41197 0.052000 0.14988 2.523000 0.45580 2.736000 0.93811 0.555000 0.69702 CCA TCGA-IB-7886-01A-11D-2154-08 ANXA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048646.2 1 0 1 40 88 0 17 1 1 85 330 0 17 2 0 0 0 0 0 2 1 1.000000 40 86 0 17 2 0 0 0 0 17 2 -20.000000 1 1 0 0 1 1 3 4 2.240689 1 0.510000 2.620000 0.617337 0.990000 0.990000 1.000000 1.000000 0.999962 0.990000 1 0.990000 1.000000 NFRKB 4798 broad.mit.edu 37 11 129735831 129735831 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:129735831C>T ENST00000446488.3 - 24 3682 c.3579G>A c.(3577-3579)caG>caA p.Q1193Q NFRKB_ENST00000524746.1_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000304521.5_Silent_p.Q1193Q NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) CCTTCATTGGCTGGCTGATCA 0.498000 0 SO:0001819 synonymous_variant ENST00000446488.3 1 1 hg19 CCDS44770.1 TCGA-IB-7886-01A-11D-2154-08 NFRKB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386063.2 1 0 1 52 331 0 55 1 9.987667e-01 14 52 0 55 2 0 0 0 0 0 2 1 1.000000 50 327 0 55 2 0 0 0 0 55 2 -20.000000 1 1 0 0 1 1 3 4 2.616551 1 0.510000 2.620000 0.675497 0.800000 0.610000 1.000000 1.000000 0.812023 0.800000 0 0.700000 0.910000 FAT3 120114 broad.mit.edu 37 11 92535012 92535012 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:92535012G>A ENST00000298047.6 + 9 8850 c.8833G>A c.(8833-8835)Gtc>Atc p.V2945I FAT3_ENST00000525166.1_Missense_Mutation_p.V2795I|FAT3_ENST00000409404.2_Missense_Mutation_p.V2945I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGTGGTAGCCGTCCTCAGCAC 0.517000 TCGA Ovarian(4;0.039) 0 SO:0001583 missense ENST00000298047.6 1 0 hg19 6 0.0027472527472527475 0 0.0 0 0.0 1 0.0017482517482517483 5 0.006596306068601583 G 5.340 0.247997 0.10130 0.001258 0.003609 ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000525166 T;T;T 0.01767 4.65;4.65;4.65 5.6 3.72 0.42706 . . . . . T 0.01124 0.0037 N 0.17922 0.545 0.80722 D 1 P 0.46578 0.88 B 0.41036 0.346 T 0.73251 -0.4042 9 0.26408 T 0.33 . 11.4271 0.50018 0.0681:0.1263:0.8056:0.0 . 2945 Q8TDW7-3 . I 2945;2945;2795 ENSP00000298047:V2945I;ENSP00000387040:V2945I;ENSP00000432586:V2795I ENSP00000298047:V2945I V + 1 0 FAT3 92174660 1.000000 0.71417 0.862000 0.33874 0.863000 0.49368 6.724000 0.74747 0.718000 0.32166 0.563000 0.77884 GTC TCGA-IB-7886-01A-11D-2154-08 FAT3-201 KNOWN basic protein_coding protein_coding 0 0 1 79 461 0 66 0 0 0 0 66 2 0 0 0 0 0 2 1 1.000000 79 459 0 65 2 0 0 0 0 66 2 -5.277283 1 1 120902 676 60 1 1 3 4 2.616551 1 0.510000 2.620000 0.675497 0.860000 0.690000 1.000000 1.000000 0.869292 0.860000 1 0.770000 0.960000 SBF2 81846 broad.mit.edu 37 11 9853827 9853827 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr11:9853827C>T ENST00000256190.8 - 27 3733 c.3596G>A c.(3595-3597)gGa>gAa p.G1199E NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 48 CCCATGGAATCCTCCAGATCG 0.483000 0 SO:0001583 missense ENST00000256190.8 1 1 hg19 CCDS31427.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 32|32 5.181681|5.181681 0.94885|0.94885 .|. .|. ENSG00000133812|ENSG00000133812 ENST00000530741|ENST00000256190 .|D .|0.92545 .|-3.06 5.76|5.76 5.76|5.76 0.90799|0.90799 .|Myotubularin phosphatase domain (1); .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.95787|0.95787 0.8629|0.8629 M|M 0.66506|0.66506 2.035|2.035 0.80722|0.80722 D|D 1|1 .|D .|0.89917 .|1.0 .|D .|0.81914 .|0.995 D|D 0.95369|0.95369 0.8462|0.8462 5|10 .|0.66056 .|D .|0.02 .|. 20.3242|20.3242 0.98691|0.98691 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|1199 .|Q86WG5 .|MTMRD_HUMAN N|E 83|1199 .|ENSP00000256190:G1199E .|ENSP00000256190:G1199E D|G -|- 1|2 0|0 SBF2|SBF2 9810403|9810403 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 7.764000|7.764000 0.85297|0.85297 2.882000|2.882000 0.98803|0.98803 0.655000|0.655000 0.94253|0.94253 GAT|GGA TCGA-IB-7886-01A-11D-2154-08 SBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386911.2 1 0 1 75 226 0 49 1 9.999894e-01 15 39 0 49 2 0 0 0 0 1 2 1 1.000000 73 224 0 49 2 0 0 0 0 49 2 -20.000000 1 1 0 0 1 0 2 2 1.735826 1 0.510000 2.620000 0.510000 0.970000 0.790000 1.000000 1.000000 0.950419 0.970000 1 0.870000 1.000000 NUAK1 9891 broad.mit.edu 37 12 106460608 106460608 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:106460608G>A ENST00000261402.2 - 7 3337 c.1958C>T c.(1957-1959)gCg>gTg p.A653V NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 37 GATCTCCAGCGCTTGCTTGTA 0.632000 0 SO:0001583 missense ENST00000261402.2 1 1 hg19 CCDS31892.1 . . . . . . . . . . G 33 5.203470 0.95033 . . ENSG00000074590 ENST00000261402 D 0.82984 -1.67 5.8 5.8 0.92144 . 0.000000 0.64402 D 0.000012 D 0.90916 0.7145 M 0.73217 2.22 0.80722 D 1 D 0.89917 1.0 D 0.71656 0.974 D 0.91082 0.4900 10 0.87932 D 0 . 20.0609 0.97674 0.0:0.0:1.0:0.0 . 653 O60285 NUAK1_HUMAN V 653 ENSP00000261402:A653V ENSP00000261402:A653V A - 2 0 NUAK1 104984738 1.000000 0.71417 0.992000 0.48379 0.945000 0.59286 9.476000 0.97823 2.755000 0.94549 0.655000 0.94253 GCG TCGA-IB-7886-01A-11D-2154-08 NUAK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405767.2 1 0 1 187 521 0 142 1 9.999990e-01 2 55 0 142 2 0 0 0 0 0 2 1 1.000000 182 509 0 140 2 0 0 0 0 142 2 -20.000000 1 1 121410 6 41 1 2 2 4 1.828375 0 0.510000 2.620000 0.538259 0.990000 0.960000 1.000000 1.000000 0.998120 0.990000 1 0.990000 1.000000 CACNA2D4 93589 broad.mit.edu 37 12 1992157 1992157 + Missense_Mutation SNP G G C rs138567080 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:1992157G>C ENST00000382722.5 - 13 1723 c.1361C>G c.(1360-1362)aCg>aGg p.T454R CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T454R|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T390R|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T454R NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) TGAGATCTGCGTGTAGTAGCC 0.642000 Colon(2;101 179 21030 23310 28141) 0 SO:0001583 missense ENST00000382722.5 1 0 hg19 CCDS44785.1 . . . . . . . . . . G 21.7 4.187345 0.78789 . . ENSG00000151062 ENST00000456077;ENST00000280663;ENST00000382722 T 0.14022 2.54 5.43 4.54 0.55810 von Willebrand factor, type A (3); 0.000000 0.85682 D 0.000000 T 0.33818 0.0876 M 0.63428 1.95 0.80722 D 1 D 0.89917 1.0 D 0.79784 0.993 T 0.04440 -1.0951 10 0.52906 T 0.07 . 14.1451 0.65347 0.0721:0.0:0.9279:0.0 . 454 Q7Z3S7 CA2D4_HUMAN R 390;454;454 ENSP00000372169:T454R ENSP00000280663:T454R T - 2 0 CACNA2D4 1862418 1.000000 0.71417 0.861000 0.33841 0.842000 0.47809 9.476000 0.97823 1.295000 0.44724 0.462000 0.41574 ACG TCGA-IB-7886-01A-11D-2154-08 CACNA2D4-001 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000398230.2 1 0 1 10 53 0 17 0 0 0 0 17 2 0 0 0 0 0 2 1 0.997463 10 52 0 17 2 0 0 0 0 17 2 -18.349550 1 0 0 0 1 0 2 2 1.866547 1 0.510000 2.620000 0.510000 0.630000 0.330000 1.000000 1.000000 0.650395 0.630000 0 0.470000 0.820000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr12:25398285C>A ENST00000256078.4 - 2 97 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C 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 25.8 4.676185 0.88445 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.79141 -1.24;-1.24;-1.24;-1.24 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90466 0.7014 M 0.90650 3.135 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.79784 0.993;0.993 D 0.91833 0.5477 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN C 12 ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C ENSP00000256078:G12C 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-IB-7886-01A-11D-2154-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 157 66 0 14 1 1 46 17 0 14 2 1 1 508 207 0 403 2 1 1.000000 155 66 0 14 2 1 1 6175 1843 0 14 2 -20.000000 1 1 121404 2 38 1 0 7 7 3.950103 1 0.510000 2.620000 0.783401 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 SUGT1 10910 broad.mit.edu 37 13 53254258 53254258 + Missense_Mutation SNP G G C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr13:53254258G>C ENST00000343788.6 + 13 1046 c.964G>C c.(964-966)Gat>Cat p.D322H SUGT1_ENST00000310528.8_Missense_Mutation_p.D290H|SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H NM_001130912.1 NP_001124384.1 Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) AGATGGTTCTGATGAAGTGAA 0.313000 0 SO:0001583 missense ENST00000343788.6 1 1 hg19 CCDS45050.1 . . . . . . . . . . G 19.85 3.903552 0.72754 . . ENSG00000165416 ENST00000343788;ENST00000535397;ENST00000310528 T;T 0.31769 1.48;1.53 5.22 4.38 0.52667 SGS (2);HSP20-like chaperone (1); 0.000000 0.85682 D 0.000000 T 0.63141 0.2486 M 0.91196 3.185 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.998;1.0;0.999;0.998 T 0.72818 -0.4178 10 0.72032 D 0.01 -21.0837 14.094 0.65008 0.0731:0.0:0.9269:0.0 . 234;234;322;290 F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2 .;.;SUGT1_HUMAN;. H 322;234;290 ENSP00000367208:D322H;ENSP00000308067:D290H ENSP00000308067:D290H D + 1 0 SUGT1 52152259 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.420000 0.97426 1.329000 0.45376 0.467000 0.42956 GAT TCGA-IB-7886-01A-11D-2154-08 SUGT1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000045104.2 1 0 1 262 252 0 117 1 1 89 49 0 117 2 0 0 0 0 0 2 1 1.000000 258 247 0 116 2 0 0 0 0 117 2 -20.000000 1 1 0 0 1 0 2 2 1.736236 1 0.510000 2.620000 0.510000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 FOXG1 2290 broad.mit.edu 37 14 29237195 29237195 + Missense_Mutation SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:29237195A>G ENST00000313071.4 + 1 909 c.710A>G c.(709-711)aAg>aGg p.K237R FOXG1_ENST00000382535.3_Missense_Mutation_p.K237R|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA NM_005249.4 NP_005240.3 P55316 FOXG1_HUMAN forkhead box G1 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) TCCCTCAACAAGTGCTTCGTG 0.587000 0 SO:0001583 missense ENST00000313071.4 1 1 hg19 CCDS9636.1 . . . . . . . . . . A 24.7 4.561743 0.86335 . . ENSG00000176165 ENST00000382535;ENST00000313071 D;D 0.96073 -3.9;-3.9 4.01 4.01 0.46588 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4); 0.000000 0.85682 U 0.000000 D 0.96664 0.8911 L 0.59912 1.85 0.58432 D 0.999999 D 0.89917 1.0 D 0.97110 1.0 D 0.96908 0.9665 10 0.87932 D 0 . 12.6221 0.56610 1.0:0.0:0.0:0.0 . 237 P55316 FOXG1_HUMAN R 237 ENSP00000371975:K237R;ENSP00000339004:K237R ENSP00000339004:K237R K + 2 0 FOXG1 28306946 1.000000 0.71417 1.000000 0.80357 0.921000 0.55340 9.184000 0.94893 1.446000 0.47643 0.254000 0.18369 AAG TCGA-IB-7886-01A-11D-2154-08 FOXG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276559.3 1 0 1 104 162 0 54 0 0 0 0 54 2 0 0 0 0 0 2 1 1.000000 83 146 0 48 2 0 0 0 0 54 2 -20.000000 1 1 0 0 1 1 2 3 2.154278 1 0.510000 2.620000 0.607969 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 PLEKHH1 57475 broad.mit.edu 37 14 68044761 68044761 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:68044761G>A ENST00000329153.5 + 19 2728 c.2596G>A c.(2596-2598)Gtg>Atg p.V866M PLEKHH1_ENST00000417684.2_5'Flank NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 19 CTTCATCAACGTGCCGGTGGA 0.597000 0 SO:0001583 missense ENST00000329153.5 1 1 hg19 CCDS45128.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 28.8 4.949389 0.92660 . . ENSG00000054690 ENST00000329153 T 0.73789 -0.78 5.14 5.14 0.70334 MyTH4 domain (2); 0.000000 0.85682 D 0.000000 D 0.85647 0.5745 M 0.75264 2.295 0.80722 D 1 D 0.69078 0.997 D 0.66351 0.943 D 0.86972 0.2098 10 0.72032 D 0.01 . 18.7908 0.91973 0.0:0.0:1.0:0.0 . 866 Q9ULM0 PKHH1_HUMAN M 866 ENSP00000330278:V866M ENSP00000330278:V866M V + 1 0 PLEKHH1 67114514 1.000000 0.71417 1.000000 0.80357 0.972000 0.66771 9.257000 0.95545 2.665000 0.90641 0.655000 0.94253 GTG TCGA-IB-7886-01A-11D-2154-08 PLEKHH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412730.3 1 0 1 182 326 0 96 1 9.999569e-01 16 14 0 96 2 0 0 0 0 0 2 1 1.000000 178 323 0 94 2 0 0 0 0 96 2 -20.000000 1 1 121252 1 35 1 1 2 3 2.154278 1 0.510000 2.620000 0.607969 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 FLRT2 23768 broad.mit.edu 37 14 86089365 86089365 + Missense_Mutation SNP G G A rs149005998 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:86089365G>A ENST00000330753.4 + 2 2274 c.1507G>A c.(1507-1509)Gcg>Acg p.A503T FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 73 TAACTACCGCGCGGTAGAAGA 0.537000 0 SO:0001583 missense ENST00000330753.4 1 1 hg19 CCDS9877.1 . . . . . . . . . . G 2.547 -0.304874 0.05495 4.54E-4 2.33E-4 ENSG00000185070 ENST00000330753;ENST00000554746;ENST00000535800 T;T 0.55930 0.49;0.49 6.17 5.07 0.68467 Fibronectin, type III (1); 0.164767 0.56097 N 0.000039 T 0.39091 0.1065 L 0.38175 1.15 0.31348 N 0.682867 B 0.09022 0.002 B 0.04013 0.001 T 0.39375 -0.9617 10 0.13853 T 0.58 -6.2272 10.3338 0.43837 0.1995:0.0:0.8005:0.0 . 503 O43155 FLRT2_HUMAN T 503;503;156 ENSP00000332879:A503T;ENSP00000451050:A503T ENSP00000332879:A503T A + 1 0 FLRT2 85159118 1.000000 0.71417 0.302000 0.25058 0.145000 0.21501 4.224000 0.58593 1.277000 0.44412 0.655000 0.94253 GCG TCGA-IB-7886-01A-11D-2154-08 FLRT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413193.1 1 0 1 311 483 0 126 0 9.999977e-01 0 33 0 126 2 0 0 0 0 0 2 1 1.000000 307 480 0 123 2 0 0 0 0 126 2 -20.000000 1 1 121412 11 46 1 1 2 3 2.154278 1 0.510000 2.620000 0.607969 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 BCL11B 64919 broad.mit.edu 37 14 99640770 99640770 + Silent SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr14:99640770G>A ENST00000357195.3 - 4 2412 c.2403C>T c.(2401-2403)tgC>tgT p.C801C BCL11B_ENST00000443726.2_Silent_p.C607C|BCL11B_ENST00000345514.2_Silent_p.C730C NM_001282237.1|NM_138576.2 NP_001269166.1|NP_612808.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) ACACCTTGCCGCAGTACTCGC 0.721000 T TLX3 T-ALL Dom yes 14 14q32.1 64919 B-cell CLL/lymphoma 11B (CTIP2) L 0 SO:0001819 synonymous_variant ENST00000357195.3 1 1 hg19 CCDS9950.1 TCGA-IB-7886-01A-11D-2154-08 BCL11B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000072332.2 1 0 0 27 103 0 21 0 0 0 0 21 2 0 0 0 0 0 2 1 1.000000 27 101 0 20 2 0 0 0 0 21 2 -20.000000 1 1 121218 2 36 1 1 2 3 2.154278 1 0.510000 2.620000 0.607969 0.990000 0.710000 1.000000 1.000000 0.947854 0.990000 1 0.850000 1.000000 SLC12A6 9990 broad.mit.edu 37 15 34546711 34546711 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr15:34546711C>T ENST00000354181.3 - 9 1448 c.956G>A c.(955-957)cGt>cAt p.R319H SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 45 all_lung(180;2.78e-08) Potassium Chloride(DB00761) GCCGTAGACACGCATGTTATT 0.453000 0 SO:0001583 missense ENST00000354181.3 1 1 hg19 CCDS58352.1 . . . . . . . . . . C 35 5.421433 0.96111 2.27E-4 0.0 ENSG00000140199 ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844 D;D;D;D;D 0.86366 -2.1;-2.11;-2.11;-2.11;-1.59 5.1 5.1 0.69264 Amino acid permease domain (1); 0.063721 0.64402 N 0.000006 D 0.95601 0.8570 H 0.95402 3.665 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.998;0.993;0.999;1.0 D 0.96738 0.9544 10 0.87932 D 0 . 17.4519 0.87594 0.0:1.0:0.0:0.0 . 304;319;268;131 Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3 .;S12A6_HUMAN;.;. H 268;304;310;260;260;131 ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H ENSP00000290209:R268H R - 2 0 SLC12A6 32334003 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.651000 0.83577 2.634000 0.89283 0.655000 0.94253 CGT TCGA-IB-7886-01A-11D-2154-08 SLC12A6-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000417991.1 1 0 0 17 254 0 38 0 6.913124e-01 0 37 0 38 2 0 0 0 0 0 2 1 0.999969 17 253 0 38 2 0 0 0 0 38 2 -19.831370 1 1 0 0 1 1 2 3 2.187446 1 0.510000 2.620000 0.609562 0.310000 0.180000 0.470000 0.300000 0.323731 0.310000 0 0.240000 0.390000 GPRC5B 51704 broad.mit.edu 37 16 19883256 19883256 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:19883256C>T ENST00000300571.2 - 2 1103 c.912G>A c.(910-912)acG>acA p.T304T GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000569847.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, class C, group 5, member B 25 AGTAGTTGGGCGTGTTCTCCT 0.637000 0 SO:0001819 synonymous_variant ENST00000300571.2 1 1 hg19 CCDS10581.1 TCGA-IB-7886-01A-11D-2154-08 GPRC5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254285.1 1 0 1 66 321 0 78 1 9.863036e-01 2 33 0 78 2 0 0 0 1 0 0 2 1 1.000000 66 319 0 77 2 0 0 0 0 78 2 -20.000000 1 1 121412 2 39 1 1 2 3 2.142268 1 0.510000 2.620000 0.607969 0.830000 0.660000 1.000000 1.000000 0.842076 0.830000 0 0.740000 0.940000 SEZ6L2 26470 broad.mit.edu 37 16 29908310 29908310 + Missense_Mutation SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:29908310G>T ENST00000308713.5 - 3 871 c.344C>A c.(343-345)gCa>gAa p.A115E SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000562159.1_5'UTR NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 39 AGTGGGGCCTGCCCCCCTGAC 0.736000 0 SO:0001583 missense ENST00000308713.5 0 1 hg19 CCDS10659.1 . . . . . . . . . . G 18.09 3.546087 0.65198 . . ENSG00000174938 ENST00000308713;ENST00000346932;ENST00000537485 T;T;T 0.44083 0.93;0.93;0.93 5.36 5.36 0.76844 . 0.123614 0.36374 N 0.002633 T 0.26231 0.0640 N 0.19112 0.55 0.31331 N 0.684786 B;B;B;B 0.33238 0.403;0.281;0.281;0.281 B;B;B;B 0.30855 0.121;0.057;0.104;0.057 T 0.24154 -1.0168 9 . . . . 11.3559 0.49615 0.0844:0.0:0.9156:0.0 . 71;115;115;115 F5H293;B7Z5L4;Q9BW82;Q6UXD5 .;.;.;SE6L2_HUMAN E 115;115;71 ENSP00000312550:A115E;ENSP00000319215:A115E;ENSP00000439412:A71E . A - 2 0 SEZ6L2 29815811 0.445000 0.25657 1.000000 0.80357 0.965000 0.64279 3.770000 0.55310 2.523000 0.85059 0.561000 0.74099 GCA TCGA-IB-7886-01A-11D-2154-08 SEZ6L2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255154.2 1 0 0 4 51 0 11 0 1.907060e-01 0 9 0 11 2 0 0 0 0 0 2 1 0.869008 4 46 0 10 2 0 0 0 0 11 2 -9.257908 1 1 0 0 1 1 2 3 2.115115 1 0.510000 2.620000 0.603110 0.400000 0.130000 1.000000 0.360000 0.456623 0.400000 0 0.240000 0.660000 FUS 2521 broad.mit.edu 37 16 31200485 31200485 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:31200485C>T ENST00000254108.7 + 9 979 c.874C>T c.(874-876)Ctg>Ttg p.L292L FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.L291L|FUS_ENST00000568685.1_Silent_p.L293L NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN FUS RNA binding protein FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) TGTGCAAGGCCTGGGTGAGAA 0.388000 T DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1 liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma Dom yes 16 16p11.2 2521 fusion, derived from t(12;16) malignant liposarcoma M, L 0 SO:0001819 synonymous_variant ENST00000254108.7 1 1 hg19 CCDS10707.1 TCGA-IB-7886-01A-11D-2154-08 FUS-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000255526.2 1 0 0 262 1091 0 193 1 1 240 1009 0 193 2 0 0 0 0 0 2 1 1.000000 259 1083 0 191 2 0 0 0 0 193 2 -20.000000 1 1 0 0 1 1 2 3 2.115115 1 0.510000 2.620000 0.603110 0.930000 0.830000 1.000000 1.000000 0.939873 0.930000 1 0.880000 1.000000 CDH11 1009 broad.mit.edu 37 16 64984898 64984898 + Missense_Mutation SNP G G A rs147033764 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr16:64984898G>A ENST00000268603.4 - 12 2281 c.1666C>T c.(1666-1668)Cgg>Tgg p.R556W CDH11_ENST00000394156.3_Missense_Mutation_p.R556W|CDH11_ENST00000566827.1_Missense_Mutation_p.R430W NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 88 Ovarian(137;0.0973) CCTCCACGCCGGGCGTACACG 0.592000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) Dom yes 16 16q22.1 1009 cadherin 11, type 2, OB-cadherin (osteoblast) M 0 SO:0001583 missense ENST00000268603.4 1 1 hg19 CCDS10803.1 . . . . . . . . . . G 17.16 3.319581 0.60524 . . ENSG00000140937 ENST00000268603;ENST00000394156;ENST00000538390 T;T 0.61040 2.08;0.14 5.55 4.51 0.55191 Cadherin (3);Cadherin-like (1); 0.421596 0.26193 N 0.025782 T 0.72045 0.3412 M 0.89715 3.055 0.37759 D 0.926242 D;D 0.65815 0.995;0.991 P;P 0.53861 0.736;0.462 T 0.80058 -0.1541 10 0.87932 D 0 . 9.7974 0.40744 0.0:0.1189:0.6897:0.1914 . 556;556 P55287-2;P55287 .;CAD11_HUMAN W 556;556;539 ENSP00000268603:R556W;ENSP00000377711:R556W ENSP00000268603:R556W R - 1 2 CDH11 63542399 1.000000 0.71417 1.000000 0.80357 0.526000 0.34562 1.290000 0.33319 2.594000 0.87642 0.655000 0.94253 CGG TCGA-IB-7886-01A-11D-2154-08 CDH11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268755.1 1 0 1 40 205 0 31 0 1 1 422 0 31 2 0 0 0 0 0 2 1 1.000000 39 204 0 30 2 0 0 0 0 31 2 -2.753065 1 1 0 0 1 1 2 3 2.132622 1 0.510000 2.620000 0.607969 0.800000 0.590000 1.000000 1.000000 0.810074 0.800000 0 0.690000 0.930000 CYP4F22 126410 broad.mit.edu 37 19 15651359 15651359 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:15651359G>A ENST00000269703.3 + 8 969 c.770G>A c.(769-771)cGc>cAc p.R257H CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 37 ATTTACTACCGCTCGGCGGAT 0.582000 0 SO:0001583 missense ENST00000269703.3 1 1 hg19 CCDS12331.1 . . . . . . . . . . G 10.16 1.274344 0.23307 0.0 1.16E-4 ENSG00000171954 ENST00000269703 T 0.68765 -0.35 5.39 -6.85 0.01681 . 0.385586 0.27406 N 0.019502 T 0.55609 0.1931 L 0.45228 1.405 0.22511 N 0.999039 B 0.09022 0.002 B 0.08055 0.003 T 0.11060 -1.0603 10 0.62326 D 0.03 . 19.8166 0.96571 0.0:0.0:0.1486:0.8514 . 257 Q6NT55 CP4FN_HUMAN H 257 ENSP00000269703:R257H ENSP00000269703:R257H R + 2 0 CYP4F22 15512359 0.063000 0.20901 0.001000 0.08648 0.004000 0.04260 0.258000 0.18387 -1.590000 0.01623 0.453000 0.30009 CGC TCGA-IB-7886-01A-11D-2154-08 CYP4F22-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000461338.2 1 0 1 207 290 0 89 0 0 0 0 89 2 0 0 0 0 0 2 1 1.000000 201 284 0 89 2 0 0 0 0 89 2 -20.000000 1 1 121412 4 41 1 1 2 3 2.079699 1 0.510000 2.620000 0.599804 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ZNF99 7652 broad.mit.edu 37 19 22940448 22940448 + Missense_Mutation SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:22940448G>T ENST00000596209.1 - 4 2353 c.2263C>A c.(2263-2265)Cat>Aat p.H755N CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.H664N NM_001080409.2 NP_001073878.2 A8MXY4 ZNF99_HUMAN zinc finger protein 99 p.H664D(1) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTGCAGTATGAATTACCTTA 0.353000 1 Substitution - Missense(1) SO:0001583 missense ENST00000596209.1 0 1 hg19 CCDS59369.1 . . . . . . . . . . g 12.79 2.043291 0.36085 . . ENSG00000213973 ENST00000397104 T 0.28895 1.59 0.726 0.726 0.18248 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.62109 0.2401 H 0.94542 3.55 0.24997 N 0.991498 D 0.89917 1.0 D 0.97110 1.0 T 0.50608 -0.8808 9 0.87932 D 0 . 8.9692 0.35897 0.0:0.0:1.0:0.0 . 664 A8MXY4 ZNF99_HUMAN N 664 ENSP00000380293:H664N ENSP00000380293:H664N H - 1 0 ZNF99 22732288 0.998000 0.40836 0.006000 0.13384 0.035000 0.12851 4.228000 0.58619 0.680000 0.31366 0.400000 0.26472 CAT TCGA-IB-7886-01A-11D-2154-08 ZNF99-001 NOVEL not_best_in_genome_evidence|basic|CCDS protein_coding protein_coding OTTHUMT00000464591.1 1 0 1 47 266 0 48 0 0 0 0 48 2 0 0 0 0 0 2 1 1.000000 44 213 0 54 2 0 0 0 0 48 2 -20.000000 1 1 0 0 1 1 2 3 2.079699 1 0.510000 2.620000 0.599804 0.730000 0.540000 1.000000 0.720000 0.756034 0.730000 0 0.630000 0.880000 ZNF675 171392 broad.mit.edu 37 19 23836431 23836431 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:23836431C>T ENST00000359788.4 - 4 1472 c.1304G>A c.(1303-1305)cGa>cAa p.R435Q ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTTTGAGGATCGGTTAAAAGC 0.378000 0 SO:0001583 missense ENST00000359788.4 1 0 hg19 CCDS32981.1 . . . . . . . . . . . 0.409 -0.914248 0.02415 . . ENSG00000197372 ENST00000359788 T 0.07444 3.19 0.876 -1.75 0.08031 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03263 0.0095 N 0.12443 0.215 0.09310 N 1 B 0.22909 0.077 B 0.12837 0.008 T 0.46624 -0.9178 9 0.08381 T 0.77 . 5.1337 0.14924 0.0:0.3802:0.0:0.6198 . 435 Q8TD23 ZN675_HUMAN Q 435 ENSP00000352836:R435Q ENSP00000352836:R435Q R - 2 0 ZNF675 23628271 0.000000 0.05858 0.008000 0.14137 0.008000 0.06430 -3.295000 0.00523 -0.722000 0.04922 -0.708000 0.03648 CGA TCGA-IB-7886-01A-11D-2154-08 ZNF675-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466433.1 1 0 1 140 217 0 65 0 9.980627e-01 1 17 0 65 2 0 0 0 0 0 2 1 1.000000 138 216 0 64 2 0 0 0 0 65 2 -19.540570 1 1 0 0 1 1 2 3 2.079699 1 0.510000 2.620000 0.599804 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CNTD2 79935 broad.mit.edu 37 19 40729348 40729348 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:40729348C>A ENST00000430325.2 - 4 667 c.619G>T c.(619-621)Ggc>Tgc p.G207C CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C NM_024877.3 NP_079153.2 Q9H8S5 CNTD2_HUMAN cyclin N-terminal domain containing 2 2 AGCAGCGGGCCGGGGTGGTGC 0.726000 0 SO:0001583 missense ENST00000430325.2 0 1 hg19 CCDS12551.2 . . . . . . . . . . C 12.98 2.101787 0.37048 . . ENSG00000105219 ENST00000430325;ENST00000513948 T;T 0.30981 1.51;1.52 4.02 4.02 0.46733 . . . . . T 0.40570 0.1122 N 0.24115 0.695 0.26488 N 0.974985 D 0.89917 1.0 D 0.75020 0.985 T 0.22452 -1.0216 9 0.54805 T 0.06 . 13.1598 0.59538 0.0:1.0:0.0:0.0 . 207 B4DX65 . C 207;101 ENSP00000396755:G207C;ENSP00000425529:G101C ENSP00000396755:G207C G - 1 0 CNTD2 45421188 0.020000 0.18652 0.109000 0.21407 0.116000 0.19942 1.586000 0.36611 2.078000 0.62432 0.561000 0.74099 GGC TCGA-IB-7886-01A-11D-2154-08 CNTD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360785.1 0 0 0 32 91 0 16 0 0 0 0 16 2 0 0 0 0 0 2 1 1.000000 31 87 0 15 2 0 0 0 0 16 2 -20.000000 1 1 0 0 1 2 2 4 2.374902 1 0.510000 2.620000 0.644257 0.990000 0.990000 1.000000 1.000000 0.999080 0.990000 1 0.990000 1.000000 CEACAM3 1084 broad.mit.edu 37 19 42312866 42312866 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:42312866G>A ENST00000357396.3 + 3 681 c.440G>A c.(439-441)gGc>gAc p.G147D CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 19 AATGCCCCAGGCCTTCCTGTG 0.612000 0 SO:0001583 missense ENST00000357396.3 1 1 hg19 CCDS12586.2 . . . . . . . . . . G 9.004 0.980901 0.18812 . . ENSG00000170956 ENST00000357396;ENST00000221999;ENST00000344550 T;T;T 0.01272 5.12;5.07;5.07 2.21 -1.96 0.07525 . . . . . T 0.03348 0.0097 M 0.62088 1.915 0.09310 N 1 D;D 0.69078 0.995;0.997 D;D 0.68943 0.961;0.941 T 0.40403 -0.9565 9 0.17369 T 0.5 . 1.0058 0.01487 0.1539:0.2257:0.3909:0.2295 . 147;147 G5E978;P40198 .;CEAM3_HUMAN D 147 ENSP00000349971:G147D;ENSP00000221999:G147D;ENSP00000341725:G147D ENSP00000221999:G147D G + 2 0 CEACAM3 47004706 0.002000 0.14202 0.001000 0.08648 0.015000 0.08874 0.766000 0.26560 -0.299000 0.08909 0.514000 0.50259 GGC TCGA-IB-7886-01A-11D-2154-08 CEACAM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316509.2 1 0 1 409 817 0 162 0 1.114727e-01 0 2 0 162 2 0 0 0 0 0 2 1 1.000000 396 802 0 159 2 0 0 0 0 162 2 -20.000000 1 1 0 0 1 2 2 4 2.374902 1 0.510000 2.620000 0.644257 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 CIC 23152 broad.mit.edu 37 19 42797190 42797190 + Silent SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:42797190C>A ENST00000575354.2 + 15 3592 c.3552C>A c.(3550-3552)atC>atA p.I1184I CIC_ENST00000160740.3_Silent_p.I1182I|CIC_ENST00000572681.2_Silent_p.I2091I NM_015125.3 NP_055940.3 Q96RK0 CIC_HUMAN capicua transcriptional repressor 82 Prostate(69;0.00682) AGGCAGCCATCGCCAGCATTC 0.662000 Mis, F, S oligodendroglioma Rec yes 19 19q13.2 23152 capicua homolog O 0 SO:0001819 synonymous_variant ENST00000575354.2 1 1 hg19 CCDS12601.1 TCGA-IB-7886-01A-11D-2154-08 CIC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000438532.2 1 0 1 72 166 0 37 0 9.884060e-01 1 18 0 37 2 0 0 0 0 0 2 1 1.000000 70 164 0 36 2 0 0 0 0 37 2 -20.000000 1 1 0 0 1 2 2 4 2.374902 1 0.510000 2.620000 0.644257 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ALDH16A1 126133 broad.mit.edu 37 19 49971707 49971707 + Missense_Mutation SNP G G T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:49971707G>T ENST00000293350.4 + 15 2171 c.2008G>T c.(2008-2010)Gac>Tac p.D670Y CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) GGTGTGTCCGGACGAGTGGCC 0.697000 0 SO:0001583 missense ENST00000293350.4 1 1 hg19 CCDS12766.1 . . . . . . . . . . G 13.73 2.324210 0.41197 . . ENSG00000161618 ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981 T;T;T;T 0.73789 -0.78;-0.78;-0.78;-0.78 4.89 4.89 0.63831 Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1); 0.101073 0.64402 D 0.000004 D 0.83912 0.5357 M 0.68593 2.085 0.35738 D 0.818491 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.81914 0.959;0.967;0.995 D 0.88296 0.2946 10 0.62326 D 0.03 -6.9053 13.9554 0.64144 0.0:0.0:1.0:0.0 . 507;619;670 F5H4B6;B4DLQ1;Q8IZ83 .;.;A16A1_HUMAN Y 670;619;507;505 ENSP00000293350:D670Y;ENSP00000410142:D619Y;ENSP00000445088:D507Y;ENSP00000398675:D505Y ENSP00000293350:D670Y D + 1 0 ALDH16A1 54663519 0.965000 0.33210 0.523000 0.27875 0.062000 0.15995 2.375000 0.44283 2.426000 0.82243 0.485000 0.47835 GAC TCGA-IB-7886-01A-11D-2154-08 ALDH16A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465358.1 1 0 1 259 725 0 194 0 5.878237e-01 1 6 0 194 2 0 0 0 0 0 2 1 1.000000 257 716 0 189 2 0 0 0 0 194 2 -20.000000 1 1 0 0 1 2 2 4 2.544373 1 0.510000 2.620000 0.667639 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 INSR 3643 broad.mit.edu 37 19 7117089 7117089 + Missense_Mutation SNP A A C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 A C A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr19:7117089A>C ENST00000302850.5 - 22 4269 c.4127T>G c.(4126-4128)tTg>tGg p.L1376W INSR_ENST00000341500.5_Missense_Mutation_p.L1364W NM_000208.2 NP_000199.2 P06213 INSR_HUMAN insulin receptor 66 """Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)" GGACCGAGGCAAGGTCAGAAT 0.567000 0 SO:0001583 missense ENST00000302850.5 1 1 hg19 CCDS12176.1 . . . . . . . . . . A 17.17 3.320919 0.60634 . . ENSG00000171105 ENST00000302850;ENST00000341500 T;T 0.79940 -1.32;-1.32 4.9 4.9 0.64082 . 0.205339 0.23828 N 0.044170 D 0.90058 0.6895 M 0.86651 2.83 0.44562 D 0.997526 D;D 0.89917 1.0;0.999 D;D 0.80764 0.994;0.986 D 0.91501 0.5219 10 0.87932 D 0 . 12.5167 0.56036 1.0:0.0:0.0:0.0 . 1364;1376 P06213-2;P06213 .;INSR_HUMAN W 1376;1364 ENSP00000303830:L1376W;ENSP00000342838:L1364W ENSP00000303830:L1376W L - 2 0 INSR 7068089 1.000000 0.71417 0.947000 0.38551 0.478000 0.33099 6.780000 0.75063 2.057000 0.61298 0.460000 0.39030 TTG TCGA-IB-7886-01A-11D-2154-08 INSR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000458544.1 1 0 1 149 569 0 109 1 1 11 80 0 109 2 0 0 0 0 0 2 1 1.000000 146 557 0 107 2 0 0 0 0 109 2 -20.000000 1 1 0 0 1 1 2 3 2.079699 1 0.510000 2.620000 0.599804 0.990000 0.850000 1.000000 1.000000 0.973255 0.990000 1 0.920000 1.000000 PAPPA2 60676 broad.mit.edu 37 1 176759114 176759114 + Splice_Site SNP G G C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:176759114G>C ENST00000367662.3 + 18 6048 c.e18+1 NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 226 ACGTGAAAAGGTAAGGAACAT 0.418000 0 SO:0001630 splice_region_variant ENST00000367662.3 1 1 hg19 CCDS41438.1 . . . . . . . . . . G 16.56 3.156713 0.57259 . . ENSG00000116183 ENST00000367662 . . . 5.64 5.64 0.86602 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.6377 0.85063 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . PAPPA2 175025737 1.000000 0.71417 1.000000 0.80357 0.568000 0.35870 6.533000 0.73829 2.651000 0.90000 0.650000 0.86243 . TCGA-IB-7886-01A-11D-2154-08 PAPPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000084763.1 1 0 1 129 517 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 1.000000 129 510 0 96 2 0 0 0 0 96 2 -20.000000 1 1 0 0 1 1 2 3 2.193395 1 0.510000 2.620000 0.609562 0.970000 0.830000 1.000000 1.000000 0.961422 0.970000 1 0.900000 1.000000 SLC30A1 7779 broad.mit.edu 37 1 211751575 211751575 + Missense_Mutation SNP T T A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr1:211751575T>A ENST00000367001.4 - 1 509 c.380A>T c.(379-381)aAc>aTc p.N127I NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 11 CCCCAGCACGTTGACCAGCAG 0.701000 0 SO:0001583 missense ENST00000367001.4 1 1 hg19 CCDS1499.1 . . . . . . . . . . T 34 5.391452 0.95988 . . ENSG00000170385 ENST00000367001 T 0.69685 -0.42 4.13 4.13 0.48395 . 0.048025 0.85682 D 0.000000 D 0.88043 0.6331 H 0.98646 4.29 0.80722 D 1 D 0.69078 0.997 D 0.77557 0.99 D 0.92163 0.5737 10 0.87932 D 0 -13.1623 13.3232 0.60444 0.0:0.0:0.0:1.0 . 127 Q9Y6M5 ZNT1_HUMAN I 127 ENSP00000355968:N127I ENSP00000355968:N127I N - 2 0 SLC30A1 209818198 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.134000 0.77268 1.742000 0.51746 0.374000 0.22700 AAC TCGA-IB-7886-01A-11D-2154-08 SLC30A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000104738.2 1 0 0 20 68 0 15 0 0 0 1 0 15 2 0 0 0 0 0 2 1 0.999998 20 66 0 13 2 0 0 0 0 15 2 -20.000000 1 1 0 0 1 1 2 3 2.200008 1 0.510000 2.620000 0.609562 0.990000 0.730000 1.000000 1.000000 0.968126 0.990000 1 0.910000 1.000000 PLEKHA3 65977 broad.mit.edu 37 2 179368599 179368599 + Silent SNP A A T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:179368599A>T ENST00000234453.5 + 8 1290 c.888A>T c.(886-888)ccA>ccT p.P296P NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) ATACTCTTCCATCCTTCTCTT 0.363000 0 SO:0001819 synonymous_variant ENST00000234453.5 1 1 hg19 CCDS33336.1 TCGA-IB-7886-01A-11D-2154-08 PLEKHA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335241.2 1 0 1 53 307 0 65 1 9.998186e-01 15 61 0 65 2 0 0 0 0 0 2 1 1.000000 53 298 0 66 2 0 0 0 0 65 2 -20.000000 1 1 0 0 1 1 2 3 2.149083 1 0.510000 2.620000 0.607969 0.720000 0.550000 0.940000 0.720000 0.732407 0.720000 0 0.630000 0.820000 TTN 7273 broad.mit.edu 37 2 179537144 179537144 + Silent SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:179537144G>A ENST00000591111.1 - 150 34022 c.33798C>T c.(33796-33798)ccC>ccT p.P11266P TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P10339P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.P11640P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron Q8WZ42 TITIN_HUMAN titin 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTAGCTGGGGGAACAGCTT 0.338000 0 SO:0001819 synonymous_variant ENST00000591111.1 1 1 hg19 TCGA-IB-7886-01A-11D-2154-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 485 814 1 192 0 0 0 1 192 2 0 0 0 0 0 2 1 1.000000 482 804 1 191 22 0 0 0 1 192 2 -20.000000 1 1 0 0 1 1 2 3 2.149083 1 0.510000 2.620000 0.607969 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 SP140L 93349 broad.mit.edu 37 2 231264898 231264898 + Silent SNP C C T rs61734774 by1000genomes TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr2:231264898C>T ENST00000415673.2 + 15 1340 c.1254C>T c.(1252-1254)tgC>tgT p.C418C SP140L_ENST00000243810.6_Silent_p.C418C|SP140L_ENST00000396563.4_Silent_p.C383C|SP140L_ENST00000444636.1_Silent_p.C418C NM_138402.4 NP_612411.4 Q9H930 SP14L_HUMAN SP140 nuclear body protein-like 20 TGTTCTGTTGCGACACTTGTT 0.493000 0 SO:0001819 synonymous_variant ENST00000415673.2 1 0 hg19 CCDS46538.1 TCGA-IB-7886-01A-11D-2154-08 SP140L-009 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374538.1 1 0 1 98 476 0 91 1 9.998299e-01 15 48 0 91 2 0 0 0 0 0 2 1 1.000000 98 471 0 91 2 0 0 0 0 91 2 -2.934668 1 1 121102 571 62 1 1 2 3 2.149083 1 0.510000 2.620000 0.607969 0.830000 0.680000 1.000000 0.830000 0.842287 0.830000 0 0.750000 0.920000 LYZL4 131375 broad.mit.edu 37 3 42448399 42448399 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:42448399C>A ENST00000287748.3 - 3 506 c.231G>T c.(229-231)caG>caT p.Q77H LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H|LYZL4_ENST00000470991.1_5'UTR NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 3 TGCCACGCATCTGAAAGAGGC 0.577000 0 SO:0001583 missense ENST00000287748.3 1 1 hg19 CCDS2697.1 . . . . . . . . . . C 13.76 2.334712 0.41297 . . ENSG00000157093 ENST00000287748;ENST00000441172 T;T 0.78481 -1.18;-1.18 4.31 3.42 0.39159 Lysozyme-like domain (1); 0.000000 0.64402 D 0.000002 D 0.89543 0.6745 H 0.95780 3.72 0.37506 D 0.916944 D 0.89917 1.0 D 0.91635 0.999 D 0.91121 0.4930 10 0.87932 D 0 -19.1719 7.4537 0.27252 0.0:0.8802:0.0:0.1198 . 77 Q96KX0 LYZL4_HUMAN H 77 ENSP00000287748:Q77H;ENSP00000387897:Q77H ENSP00000287748:Q77H Q - 3 2 LYZL4 42423403 1.000000 0.71417 0.999000 0.59377 0.253000 0.25986 1.310000 0.33551 2.105000 0.64084 0.563000 0.77884 CAG TCGA-IB-7886-01A-11D-2154-08 LYZL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254729.2 1 0 1 70 225 0 54 0 0 0 0 54 2 0 0 0 0 0 2 1 1.000000 70 224 0 54 2 0 0 0 0 54 2 -20.000000 1 1 0 0 1 1 2 3 1.741544 0 0.510000 2.620000 0.512486 0.930000 0.750000 1.000000 1.000000 0.923743 0.930000 1 0.830000 1.000000 QARS 5859 broad.mit.edu 37 3 49136038 49136038 + Missense_Mutation SNP C C A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr3:49136038C>A ENST00000306125.6 - 20 2288 c.1951G>T c.(1951-1953)Gtc>Ttc p.V651F QARS_ENST00000414533.1_Missense_Mutation_p.V640F|QARS_ENST00000470225.1_5'Flank P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 19 L-Glutamine(DB00130) CTCACCTTGACAACATGCTGC 0.572000 0 SO:0001583 missense ENST00000306125.6 1 1 hg19 CCDS2788.1 . . . . . . . . . . C 14.22 2.470300 0.43942 . . ENSG00000172053 ENST00000453392;ENST00000306125;ENST00000414533 T;T 0.24151 1.87;1.87 5.9 -0.927 0.10451 Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1); 0.277142 0.39407 N 0.001378 T 0.39200 0.1069 M 0.89785 3.06 0.80722 D 1 B;B 0.30033 0.266;0.266 B;B 0.42882 0.401;0.401 T 0.26121 -1.0112 10 0.52906 T 0.07 -11.7339 6.1598 0.20358 0.0:0.3728:0.1329:0.4943 . 640;651 B4DWJ2;P47897 .;SYQ_HUMAN F 171;651;640 ENSP00000307567:V651F;ENSP00000390015:V640F ENSP00000307567:V651F V - 1 0 QARS 49111042 1.000000 0.71417 0.173000 0.22940 0.943000 0.58893 0.624000 0.24462 -0.084000 0.12595 -0.254000 0.11334 GTC TCGA-IB-7886-01A-11D-2154-08 QARS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345689.2 1 0 1 28 104 0 27 1 1 142 309 0 27 2 0 0 0 0 0 2 1 1.000000 27 104 0 27 2 0 0 0 0 27 2 -20.000000 1 1 0 0 1 1 2 3 1.741544 0 0.510000 2.620000 0.512486 0.830000 0.580000 1.000000 1.000000 0.837810 0.830000 0 0.700000 0.990000 FAT1 2195 broad.mit.edu 37 4 187542860 187542860 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:187542860C>T ENST00000441802.2 - 10 5089 c.4880G>A c.(4879-4881)cGa>cAa p.R1627Q NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 228 TTGGTTACTTCGATCTAATTC 0.368000 HNSCC(5;0.00058) Colon(197;1040 2055 4143 4984 49344) 0 SO:0001583 missense ENST00000441802.2 1 1 hg19 CCDS47177.1 . . . . . . . . . . C 11.52 1.664646 0.29604 . . ENSG00000083857 ENST00000441802;ENST00000260147 T 0.01725 4.67 5.09 4.25 0.50352 Cadherin (4);Cadherin-like (1); 0.062767 0.64402 D 0.000004 T 0.02929 0.0087 M 0.76433 2.335 0.51482 D 0.999925 B 0.29590 0.25 B 0.23018 0.043 T 0.47341 -0.9125 10 0.27785 T 0.31 . 10.879 0.46927 0.0:0.8009:0.0:0.1991 . 1627 Q14517 FAT1_HUMAN Q 1627;1629 ENSP00000406229:R1627Q ENSP00000260147:R1629Q R - 2 0 FAT1 187779854 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 1.960000 0.40422 1.514000 0.48869 0.650000 0.86243 CGA TCGA-IB-7886-01A-11D-2154-08 FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360209.3 1 0 1 35 109 0 25 1 1 28 86 0 25 2 0 0 0 0 0 2 1 1.000000 35 108 0 25 2 0 0 0 0 25 2 -20.000000 1 1 120792 3 32 1 1 2 3 1.814907 0 0.510000 2.620000 0.523369 0.990000 0.720000 1.000000 1.000000 0.942284 0.990000 1 0.840000 1.000000 CWH43 80157 broad.mit.edu 37 4 49019292 49019292 + Silent SNP T T C TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr4:49019292T>C ENST00000226432.4 + 9 1396 c.1213T>C c.(1213-1215)Ttg>Ctg p.L405L CWH43_ENST00000513409.1_Silent_p.L378L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 43 TGGTGTGGGATTGTTGGGATT 0.308000 0 SO:0001819 synonymous_variant ENST00000226432.4 1 1 hg19 CCDS3486.1 TCGA-IB-7886-01A-11D-2154-08 CWH43-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250496.2 1 0 1 78 219 0 51 0 0 0 1 0 51 2 0 0 0 0 0 2 1 1.000000 78 214 0 50 2 0 0 0 0 51 2 -20.000000 1 1 0 0 1 1 2 3 1.756223 0 0.510000 2.620000 0.514948 0.990000 0.840000 1.000000 1.000000 0.978762 0.990000 1 0.930000 1.000000 ANKHD1 54882 broad.mit.edu 37 5 139918629 139918629 + Silent SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:139918629A>G ENST00000360839.2 + 33 7684 c.7530A>G c.(7528-7530)aaA>aaG p.K2510K ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K|ANKHD1_ENST00000297183.6_Silent_p.K2510K NM_017747.2 NP_060217.1 Q8IWZ3 ANKH1_HUMAN ankyrin repeat and KH domain containing 1 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGATAAAAGTTATCCAAA 0.403000 0 SO:0001819 synonymous_variant ENST00000360839.2 1 1 hg19 CCDS4225.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 4.539|4.539 0.100145|0.100145 0.08731|0.08731 .|. .|. ENSG00000131503|ENSG00000131503 ENST00000421706|ENST00000435794;ENST00000432301 T|. 0.59638|. 0.25|. 5.87|5.87 4.73|4.73 0.59995|0.59995 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.59445|0.59445 0.2194|0.2194 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.57619|0.57619 -0.7780|-0.7780 7|4 0.87932|. D|. 0|. .|. 8.6414|8.6414 0.33978|0.33978 0.8578:0.0:0.1422:0.0|0.8578:0.0:0.1422:0.0 .|. .|. .|. .|. R|G 168|992;902 ENSP00000405345:K168R|. ENSP00000405345:K168R|. K|S +|+ 2|1 0|0 ANKHD1|ANKHD1 139898813|139898813 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 2.347000|2.347000 0.44036|0.44036 2.244000|2.244000 0.73946|0.73946 0.533000|0.533000 0.62120|0.62120 AAG|AGT TCGA-IB-7886-01A-11D-2154-08 ANKHD1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000251672.1 1 0 1 73 278 0 39 1 1 34 101 0 39 2 0 0 0 0 0 2 1 1.000000 73 276 0 39 2 0 0 0 0 39 2 -20.000000 1 1 0 0 1 1 2 3 2.196943 1 0.510000 2.620000 0.609562 0.990000 0.820000 1.000000 1.000000 0.970894 0.990000 1 0.910000 1.000000 HMMR 3161 broad.mit.edu 37 5 162901193 162901193 + Silent SNP A A T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:162901193A>T ENST00000358715.3 + 10 1068 c.1032A>T c.(1030-1032)tcA>tcT p.S344S HMMR_ENST00000432118.2_Silent_p.S258S|HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000393915.4_Silent_p.S345S O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Hyaluronan(DB08818) AAATTGATTCACTTCTGCAAC 0.303000 0 SO:0001819 synonymous_variant ENST00000358715.3 1 1 hg19 CCDS4362.1 TCGA-IB-7886-01A-11D-2154-08 HMMR-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000252752.1 1 0 1 25 171 0 31 1 9.125242e-01 10 21 0 31 2 0 0 0 0 0 2 1 1.000000 25 171 0 31 2 0 0 0 0 31 2 -12.684170 1 1 0 0 1 1 2 3 2.196943 1 0.510000 2.620000 0.609562 0.630000 0.420000 0.870000 0.630000 0.644012 0.630000 0 0.520000 0.760000 DAB2 1601 broad.mit.edu 37 5 39383071 39383071 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:39383071C>T ENST00000320816.6 - 10 1457 c.990G>A c.(988-990)ccG>ccA p.P330P DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000509337.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 47 all_lung(31;0.000197) Epithelial(62;0.137) CATTACTCAGCGGAGTAGACG 0.483000 0 SO:0001819 synonymous_variant ENST00000320816.6 1 1 hg19 CCDS34149.1 TCGA-IB-7886-01A-11D-2154-08 DAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367014.1 1 0 1 99 486 0 81 1 1 14 157 0 81 2 0 0 0 0 0 2 1 1.000000 99 482 0 79 2 0 0 0 0 81 2 -20.000000 1 1 121412 6 43 1 1 2 3 2.177618 1 0.510000 2.620000 0.609562 0.820000 0.680000 0.980000 0.840000 0.836859 0.820000 0 0.750000 0.910000 GPR98 84059 broad.mit.edu 37 5 89971103 89971103 + Silent SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr5:89971103C>T ENST00000405460.2 + 24 5250 c.5154C>T c.(5152-5154)gaC>gaT p.D1718D GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) AGCCTAAGGACGCAATGACCC 0.527000 0 SO:0001819 synonymous_variant ENST00000405460.2 0 1 hg19 CCDS47246.1 TCGA-IB-7886-01A-11D-2154-08 GPR98-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369993.2 1 0 1 22 173 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 0.999999 22 173 0 19 2 0 0 0 0 19 2 -20.000000 1 1 120964 11 38 1 1 2 3 2.196943 1 0.510000 2.620000 0.609562 0.560000 0.360000 0.790000 0.550000 0.572702 0.560000 0 0.450000 0.680000 PDE10A 10846 broad.mit.edu 37 6 165809905 165809905 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:165809905G>A ENST00000366882.1 - 15 1446 c.1292C>T c.(1291-1293)aCg>aTg p.T431M PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M|PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M Q9Y233 PDE10_HUMAN phosphodiesterase 10A p.T431M(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814) CTTTTCCATCGTTACCCGGTA 0.393000 Esophageal Squamous(22;308 615 5753 12038 40624) 1 Substitution - Missense(1) SO:0001583 missense ENST00000366882.1 1 1 hg19 . . . . . . . . . . G 22.0 4.233162 0.79688 . . ENSG00000112541 ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126 T;T 0.69806 -0.43;-0.43 5.34 5.34 0.76211 . 1.162770 0.06098 N 0.664795 T 0.79981 0.4540 M 0.68593 2.085 0.80722 D 1 D;D 0.89917 1.0;0.997 D;P 0.80764 0.994;0.882 T 0.71823 -0.4476 10 0.52906 T 0.07 . 19.0469 0.93025 0.0:0.0:1.0:0.0 . 441;431 Q9ULW9;Q9Y233 .;PDE10_HUMAN M 431;459;441;431;430 ENSP00000355847:T431M;ENSP00000346435:T431M ENSP00000341187:T441M T - 2 0 PDE10A 165729895 1.000000 0.71417 0.148000 0.22405 0.607000 0.37147 9.409000 0.97331 2.508000 0.84585 0.650000 0.86243 ACG TCGA-IB-7886-01A-11D-2154-08 PDE10A-001 PUTATIVE basic protein_coding protein_coding OTTHUMT00000043031.1 1 0 1 165 436 0 89 0 5.242315e-01 1 5 0 89 2 0 0 0 0 0 2 1 1.000000 163 432 0 89 2 0 0 0 0 89 2 -20.000000 1 1 0 0 1 1 2 3 1.761470 0 0.510000 2.620000 0.516169 0.990000 0.940000 1.000000 1.000000 0.996794 0.990000 1 0.990000 1.000000 TNXB 7148 broad.mit.edu 37 6 32038177 32038177 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr6:32038177C>T ENST00000375244.3 - 14 5206 c.5005G>A c.(5005-5007)Gcc>Acc p.A1669T TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T P22105 TENX_HUMAN tenascin XB 8 CCTGGGCTGGCGTCACCTCGG 0.607000 0 SO:0001583 missense ENST00000375244.3 1 1 hg19 . . . . . . . . . . C 9.618 1.133059 0.21041 . . ENSG00000168477 ENST00000375244;ENST00000375247 T;T 0.55760 0.66;0.5 4.87 0.759 0.18438 . 0.363230 0.20233 N 0.096454 T 0.08714 0.0216 N 0.17379 0.485 0.09310 N 1 P 0.37352 0.591 B 0.28385 0.089 T 0.28106 -1.0054 10 0.11182 T 0.66 . 4.8372 0.13471 0.1514:0.5711:0.0:0.2775 . 1669 P22105-3 . T 1669 ENSP00000364393:A1669T;ENSP00000364396:A1669T ENSP00000364393:A1669T A - 1 0 TNXB 32146155 0.028000 0.19301 0.707000 0.30419 0.942000 0.58702 -0.065000 0.11617 0.459000 0.27016 0.609000 0.83330 GCC TCGA-IB-7886-01A-11D-2154-08 TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 1 0 1 28 77 0 23 0 1.830337e-01 0 3 0 23 2 0 0 0 0 0 2 1 1.000000 27 76 0 22 2 0 0 0 0 23 2 -19.996360 1 1 0 0 1 1 2 3 1.740710 0 0.510000 2.620000 0.512486 0.990000 0.740000 1.000000 1.000000 0.959706 0.990000 1 0.880000 1.000000 PIK3CG 5294 broad.mit.edu 37 7 106508944 106508944 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:106508944C>T ENST00000359195.3 + 2 1248 c.938C>T c.(937-939)cCg>cTg p.P313L PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 132 CCTCCAGACCCGGCCCTAGAC 0.587000 0 SO:0001583 missense ENST00000359195.3 1 1 hg19 CCDS5739.1 . . . . . . . . . . C 4.728 0.135454 0.09032 . . ENSG00000105851 ENST00000440650;ENST00000496166;ENST00000359195 T;T;T 0.68181 -0.31;-0.31;-0.31 5.75 5.75 0.90469 . 0.047482 0.85682 D 0.000000 T 0.62575 0.2439 L 0.48362 1.52 0.80722 D 1 B 0.13594 0.008 B 0.06405 0.002 T 0.55579 -0.8119 10 0.24483 T 0.36 -17.0025 19.9421 0.97168 0.0:1.0:0.0:0.0 . 313 P48736 PK3CG_HUMAN L 313 ENSP00000392258:P313L;ENSP00000419260:P313L;ENSP00000352121:P313L ENSP00000352121:P313L P + 2 0 PIK3CG 106296180 1.000000 0.71417 0.967000 0.41034 0.035000 0.12851 6.044000 0.71012 2.714000 0.92807 0.561000 0.74099 CCG TCGA-IB-7886-01A-11D-2154-08 PIK3CG-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349294.1 1 0 1 90 315 0 58 0 5.618462e-01 0 8 0 58 2 0 0 0 0 0 2 1 1.000000 90 312 0 58 2 0 0 0 0 58 2 -3.425926 1 1 0 0 1 1 2 3 2.170677 1 0.510000 2.620000 0.609562 0.990000 0.890000 1.000000 1.000000 0.991492 0.990000 1 0.990000 1.000000 ZMIZ2 83637 broad.mit.edu 37 7 44801069 44801069 + Missense_Mutation SNP T T G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:44801069T>G ENST00000309315.4 + 10 1385 c.1262T>G c.(1261-1263)tTg>tGg p.L421W ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 35 TGTGACGAGTTGCGGCTGACC 0.637000 NSCLC(20;604 852 1948 16908 50522) 0 SO:0001583 missense ENST00000309315.4 1 1 hg19 CCDS43576.1 . . . . . . . . . . T 26.5 4.744049 0.89663 . . ENSG00000122515 ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051 T;T;T;T;T 0.53423 0.62;0.62;0.62;0.62;0.62 4.91 4.91 0.64330 . 0.000000 0.46145 D 0.000305 T 0.66436 0.2789 M 0.65498 2.005 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.997;0.999 T 0.70245 -0.4925 10 0.72032 D 0.01 -8.1827 14.3763 0.66879 0.0:0.0:0.0:1.0 . 395;421;363 Q8NF64-2;Q8NF64;Q8NF64-3 .;ZMIZ2_HUMAN;. W 363;421;421;389;395;421 ENSP00000409648:L363W;ENSP00000311778:L421W;ENSP00000414723:L421W;ENSP00000396601:L389W;ENSP00000265346:L395W ENSP00000265346:L395W L + 2 0 ZMIZ2 44767594 1.000000 0.71417 1.000000 0.80357 0.690000 0.40134 7.408000 0.80041 2.060000 0.61445 0.533000 0.62120 TTG TCGA-IB-7886-01A-11D-2154-08 ZMIZ2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341790.1 1 0 1 61 285 0 73 1 9.999999e-01 23 93 0 73 2 0 0 0 0 0 2 1 1.000000 54 278 0 70 2 0 0 0 0 73 2 -20.000000 1 1 0 0 1 1 2 3 2.154831 1 0.510000 2.620000 0.609562 0.860000 0.670000 1.000000 1.000000 0.869228 0.860000 1 0.760000 0.970000 ABCB1 5243 broad.mit.edu 37 7 87195527 87195527 + Silent SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:87195527A>G ENST00000265724.3 - 8 978 c.561T>C c.(559-561)ggT>ggC p.G187G ABCB1_ENST00000543898.1_Silent_p.G123G NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 111 Esophageal squamous(14;0.00164) Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495) CAATTTTGTCACCAATTCCTT 0.363000 0 SO:0001819 synonymous_variant ENST00000265724.3 1 1 hg19 CCDS5608.1 TCGA-IB-7886-01A-11D-2154-08 ABCB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335444.2 1 0 1 91 401 0 62 0 9.170654e-02 0 3 0 62 2 0 0 0 0 0 2 1 1.000000 91 399 0 62 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 1 2 3 2.173754 1 0.510000 2.620000 0.609562 0.900000 0.740000 1.000000 1.000000 0.907314 0.900000 1 0.820000 1.000000 CDK14 5218 broad.mit.edu 37 7 90356126 90356126 + Splice_Site SNP G G C rs55722725 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr7:90356126G>C ENST00000380050.3 + 3 500 c.369G>C c.(367-369)tcG>tcC p.S123S CDK14_ENST00000406263.1_Splice_Site_p.S77S|CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000265741.3_Splice_Site_p.S105S O94921 CDK14_HUMAN cyclin-dependent kinase 14 32 GCCCCAGCTCGGTAAGTGCAG 0.463000 GBM(83;1228 1256 8311 16577 31299) 0 SO:0001630 splice_region_variant ENST00000380050.3 0 0 hg19 . . . . . . . . . . G 14.74 2.624665 0.46840 . . ENSG00000058091 ENST00000436577 T 0.46451 0.87 5.51 4.6 0.57074 . . . . . T 0.38585 0.1046 . . . 0.19775 N 0.999956 P 0.43287 0.802 B 0.39465 0.3 T 0.38415 -0.9662 8 0.87932 D 0 -2.8377 14.3863 0.66947 0.0:0.0:0.7431:0.2569 . 26 E7EUK8 . P 26 ENSP00000398936:R26P ENSP00000398936:R26P R + 2 0 CDK14 90194062 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 1.836000 0.39191 2.588000 0.87417 0.563000 0.77884 CGG TCGA-IB-7886-01A-11D-2154-08 CDK14-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000059970.5 1 0 1 201 306 0 62 1 1 3 49 0 62 2 0 0 0 0 0 2 1 1.000000 196 303 0 62 2 0 0 0 0 62 2 -20.000000 1 1 0 0 1 1 2 3 2.173754 1 0.510000 2.620000 0.609562 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 KHDRBS3 10656 broad.mit.edu 37 8 136594144 136594144 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:136594144G>A ENST00000355849.5 + 6 1045 c.635G>A c.(634-636)cGg>cAg p.R212Q KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GTTACAGCCCGGCCAGTTGGA 0.502000 0 SO:0001583 missense ENST00000355849.5 1 1 hg19 CCDS6374.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 15.81|15.81 2.942837|2.942837 0.53079|0.53079 .|. .|. ENSG00000131773|ENSG00000131773 ENST00000524282|ENST00000355849;ENST00000524199 .|T .|0.45668 .|0.89 5.98|5.98 5.98|5.98 0.97165|0.97165 .|. .|0.364746 .|0.32372 .|N .|0.006188 T|T 0.34629|0.34629 0.0904|0.0904 L|L 0.40543|0.40543 1.245|1.245 0.80722|0.80722 D|D 1|1 .|B;P .|0.44816 .|0.431;0.844 .|B;B .|0.37833 .|0.099;0.259 T|T 0.12400|0.12400 -1.0549|-1.0549 5|10 .|0.46703 .|T .|0.11 -17.1845|-17.1845 14.227|14.227 0.65866|0.65866 0.0:0.2458:0.7542:0.0|0.0:0.2458:0.7542:0.0 .|. .|212;212 .|O75525-2;O75525 .|.;KHDR3_HUMAN S|Q 127|212;184 .|ENSP00000348108:R212Q .|ENSP00000348108:R212Q G|R +|+ 1|2 0|0 KHDRBS3|KHDRBS3 136663326|136663326 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.822000|0.822000 0.46500|0.46500 4.526000|4.526000 0.60566|0.60566 2.843000|2.843000 0.97960|0.97960 0.585000|0.585000 0.79938|0.79938 GGC|CGG TCGA-IB-7886-01A-11D-2154-08 KHDRBS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377529.1 1 0 1 85 527 0 79 1 9.912226e-01 2 45 0 79 2 0 0 0 0 0 2 1 1.000000 84 518 0 79 2 0 0 0 0 79 2 -3.318814 1 1 121410 2 37 1 2 2 4 2.524000 1 0.510000 2.620000 0.665323 0.800000 0.640000 1.000000 0.800000 0.817499 0.800000 0 0.720000 0.910000 COL22A1 169044 broad.mit.edu 37 8 139629165 139629165 + Missense_Mutation SNP C C T TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr8:139629165C>T ENST00000303045.6 - 54 4308 c.3862G>A c.(3862-3864)Ggt>Agt p.G1288S COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCCGGGGACCGGGTGCACCA 0.587000 HNSCC(7;0.00092) 0 SO:0001583 missense ENST00000303045.6 1 1 hg19 CCDS6376.1 . . . . . . . . . . C 13.49 2.252523 0.39797 . . ENSG00000169436 ENST00000303045;ENST00000435777;ENST00000545577 D;D 0.99329 -5.75;-5.75 4.35 4.35 0.52113 . 0.281024 0.24791 N 0.035575 D 0.99704 0.9887 H 0.99634 4.67 0.48236 D 0.999613 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.97160 0.9837 10 0.87932 D 0 . 12.6914 0.56976 0.0:1.0:0.0:0.0 . 1268;1288 Q8NFW1-2;Q8NFW1 .;COMA1_HUMAN S 1288;1268;981 ENSP00000303153:G1288S;ENSP00000387655:G1268S ENSP00000303153:G1288S G - 1 0 COL22A1 139698347 0.997000 0.39634 0.990000 0.47175 0.154000 0.21943 3.554000 0.53720 2.709000 0.92574 0.555000 0.69702 GGT TCGA-IB-7886-01A-11D-2154-08 COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000315905.2 1 0 1 79 411 0 76 1 8.724390e-01 2 19 0 76 2 0 0 0 0 0 2 1 1.000000 79 407 0 76 2 0 0 0 0 76 2 -2.973463 1 1 121412 1 32 1 2 2 4 2.524000 1 0.510000 2.620000 0.665323 0.930000 0.740000 1.000000 1.000000 0.924188 0.930000 1 0.830000 1.000000 LMX1B 4010 broad.mit.edu 37 9 129455511 129455511 + Missense_Mutation SNP G G A TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:129455511G>A ENST00000373474.4 + 4 657 c.650G>A c.(649-651)cGg>cAg p.R217Q LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217Q|LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 15 AAGGACCCGCGGAGGCCCAAG 0.652000 Nail-Patella Syndrome Pancreas(110;1796 2278 18357 20466) 0 SO:0001583 missense Familial Cancer Database Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease ENST00000373474.4 0 1 hg19 CCDS55342.1 . . . . . . . . . . G 29.2 4.989886 0.93106 . . ENSG00000136944 ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646 T;T;D;T 0.95853 -1.08;-1.08;-3.83;-1.08 4.97 4.97 0.65823 Homeodomain-related (1);Homeobox (1);Homeodomain-like (1); 0.000000 0.85682 D 0.000000 D 0.93180 0.7828 L 0.51422 1.61 0.80722 D 1 P;P;D 0.55800 0.8;0.88;0.973 B;B;B 0.44108 0.206;0.164;0.441 D 0.91782 0.5436 10 0.10636 T 0.68 . 17.2153 0.86941 0.0:0.0:1.0:0.0 . 194;194;217 B7ZLH2;O60663;F8VYP0 .;LMX1B_HUMAN;. Q 217;217;217;194 ENSP00000436930:R217Q;ENSP00000362573:R217Q;ENSP00000347684:R217Q;ENSP00000390923:R194Q ENSP00000347684:R217Q R + 2 0 LMX1B 128495332 1.000000 0.71417 0.882000 0.34594 0.936000 0.57629 6.381000 0.73163 2.299000 0.77371 0.462000 0.41574 CGG TCGA-IB-7886-01A-11D-2154-08 LMX1B-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000054123.2 1 0 0 7 81 0 17 0 0 0 0 17 2 0 0 0 0 0 2 1 0.982073 7 81 0 17 2 0 0 0 0 17 2 -11.746420 1 1 0 0 1 0 4 4 1.918591 1 0.510000 2.620000 0.563435 0.400000 0.170000 1.000000 0.350000 0.494489 0.400000 0 0.260000 1.000000 COL5A1 1289 broad.mit.edu 37 9 137653805 137653805 + Missense_Mutation SNP C C T rs149912828 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:137653805C>T ENST00000371817.3 + 19 2384 c.1970C>T c.(1969-1971)cCg>cTg p.P657L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 115 Myeloproliferative disorder(178;0.0341) CCAGGACCTCCGGGAGACGAT 0.597000 0 SO:0001583 missense ENST00000371817.3 1 1 hg19 CCDS6982.1 . . . . . . . . . . c 9.891 1.204150 0.22205 0.0 1.16E-4 ENSG00000130635 ENST00000371817 D 0.96685 -4.09 4.53 4.53 0.55603 . 0.152829 0.44688 U 0.000431 D 0.97835 0.9289 M 0.82823 2.61 0.51233 D 0.99991 D 0.89917 1.0 D 0.74023 0.982 D 0.98448 1.0590 10 0.87932 D 0 . 12.7642 0.57383 0.0:1.0:0.0:0.0 . 657 P20908 CO5A1_HUMAN L 657 ENSP00000360882:P657L ENSP00000360882:P657L P + 2 0 COL5A1 136793626 0.972000 0.33761 0.573000 0.28510 0.014000 0.08584 5.210000 0.65214 2.067000 0.61834 0.556000 0.70494 CCG TCGA-IB-7886-01A-11D-2154-08 COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054954.2 1 0 1 48 324 0 82 0 1 0 250 0 82 2 0 0 0 0 0 2 1 1.000000 48 321 0 82 2 0 0 0 0 82 2 -3.075841 1 1 121392 6 41 1 0 3 3 1.907760 1 0.510000 2.620000 0.552246 0.580000 0.420000 1.000000 0.550000 0.659994 0.580000 0 0.490000 1.000000 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1474 Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1) GRCh37 CM014695 CDKN2A M rs121913388 SO:0001587 stop_gained ENST00000304494.5 0 1 hg19 CCDS6510.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 39|39 7.328457|7.328457 0.98214|0.98214 .|. .|. ENSG00000147889|ENSG00000147889 ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177 D;D|. 0.86497|. -2.13;-2.02|. 5.93|5.93 5.01|5.01 0.66863|0.66863 .|. 0.000000|. 0.37136|. N|. 0.002233|. T|. 0.44561|. 0.1299|. L|L 0.36672|0.36672 1.1|1.1 0.47511|0.47511 D|D 0.999443|0.999443 D|. 0.59357|. 0.985|. B|. 0.40602|. 0.334|. T|. 0.34825|. -0.9813|. 10|. 0.13108|0.02654 T|T 0.6|1 -2.989|-2.989 8.7197|8.7197 0.34434|0.34434 0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526 .|. 135|. Q8N726|. CD2A2_HUMAN|. L|X 135;94|80 ENSP00000355153:P135L;ENSP00000432664:P94L|. ENSP00000355153:P135L|ENSP00000307101:R80X P|R -|- 2|1 0|2 CDKN2A|CDKN2A 21961120|21961120 0.995000|0.995000 0.38212|0.38212 1.000000|1.000000 0.80357|0.80357 0.899000|0.899000 0.52679|0.52679 2.363000|2.363000 0.44178|0.44178 1.464000|1.464000 0.47987|0.47987 0.650000|0.650000 0.86243|0.86243 CCG|CGA TCGA-IB-7886-01A-11D-2154-08 CDKN2A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000051915.1 1 0 0 44 58 0 27 0 0 0 0 27 2 1 1 65 52 0 129 2 1 1.000000 36 47 0 22 2 0 0 0 0 27 2 -10.111250 1 1 0 0 1 0 2 2 1.611550 1 0.510000 2.620000 0.510000 0.990000 0.990000 1.000000 1.000000 0.999998 0.990000 1 0.990000 1.000000 ARMCX1 51309 broad.mit.edu 37 X 100808322 100808322 + Missense_Mutation SNP A A G TCGA-IB-7886-01A-11D-2154-08 TCGA-IB-7886-10A-01D-2154-08 A G A A Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 0ae0d66a-f390-4cd4-aa84-f35e8980a52d f101fa1b-c3a8-40a0-b4ea-812861d7e7c9 g.chrX:100808322A>G ENST00000372829.3 + 4 780 c.409A>G c.(409-411)Acc>Gcc p.T137A NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 19 TGGGAACAGGACCCTTGCACC 0.612000 0 SO:0001583 missense ENST00000372829.3 1 1 hg19 CCDS14487.1 . . . . . . . . . . a 9.041 0.989764 0.18966 . . ENSG00000126947 ENST00000372829 T 0.28454 1.61 3.86 1.39 0.22231 . 0.509670 0.16809 N 0.198655 T 0.11153 0.0272 N 0.12182 0.205 0.24652 N 0.993514 B 0.06786 0.001 B 0.04013 0.001 T 0.33523 -0.9865 10 0.02654 T 1 -1.2837 3.4353 0.07444 0.6406:0.2323:0.1271:0.0 . 137 Q9P291 ARMX1_HUMAN A 137 ENSP00000361917:T137A ENSP00000361917:T137A T + 1 0 ARMCX1 100694978 0.868000 0.29978 0.977000 0.42913 0.890000 0.51754 0.859000 0.27858 0.166000 0.19597 0.451000 0.29950 ACC TCGA-IB-7886-01A-11D-2154-08 ARMCX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057561.1 1 0 1 101 266 0 52 0 9.997161e-01 0 34 0 52 2 0 0 0 0 0 2 1 1.000000 101 260 0 52 2 0 0 0 0 52 2 -20.000000 1 1 0 0 1 0 1 1 0.510000 2.620000 0.510000 0.530000 0.440000 0.630000 0.540000 0.540591 0.530000 0 0.480000 0.580000