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 CGNL1 84952 broad.mit.edu 37 15 57823890 57823890 + Frame_Shift_Del DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C - C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:57823890delC ENST00000281282.5 + 14 3282 c.3204delC c.(3202-3204)gacfs p.D1068fs CTD-2515H24.4_ENST00000566990.1_lincRNA NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 60 CTTCTTAGGACAAGGTGTCTC 0.448000 0 SO:0001589 frameshift_variant ENST00000281282.5 1 1 hg19 CCDS10161.1 TCGA-HZ-7922-01A-11D-2154-08 CGNL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255482.2 1 0 0 167 804 0 138 0 9.926001e-01 1 37 0 138 2 0 0 0 0 0 0 1 1.000000 165 796 0 136 2 -20.000000 1 1 0 0 1 2 2 4 2.323645 1 0.370000 2.950000 0.540146 0.990000 0.990000 1.000000 1.000000 0.999986 0.990000 1 9.900000e-01 1 TBC1D12 23232 broad.mit.edu 37 10 96269882 96269882 + Silent SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:96269882A>G ENST00000225235.4 + 8 1745 c.1635A>G c.(1633-1635)gaA>gaG p.E545E TBC1D12_ENST00000485048.1_3'UTR NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 20 Colorectal(252;0.0429) CCAGTCTGGAATTAATTAAGT 0.353000 0 SO:0001819 synonymous_variant ENST00000225235.4 1 1 hg19 CCDS41553.1 TCGA-HZ-7922-01A-11D-2154-08 TBC1D12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049482.2 1 0 1 69 334 0 40 1 8.588797e-01 3 16 0 40 2 0 0 0 0 0 2 1 1.000000 68 330 0 40 2 -20.000000 1 1 0 0 1 1 2 3 2.038979 1 0.370000 2.950000 0.468354 0.990000 0.870000 1.000000 1.000000 0.987911 0.990000 1 9.700000e-01 1 OR4D5 219875 broad.mit.edu 37 11 123810383 123810383 + Silent SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:123810383T>C ENST00000307033.2 + 1 134 c.60T>C c.(58-60)gtT>gtC p.V20V NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) TCTCTCAGGTTTGGGAGCTTC 0.443000 0 SO:0001819 synonymous_variant ENST00000307033.2 1 1 hg19 CCDS31699.1 TCGA-HZ-7922-01A-11D-2154-08 OR4D5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387263.1 1 0 0 44 494 0 97 0 0 0 0 97 2 0 0 0 0 0 2 1 1.000000 44 488 0 97 2 -12.187060 1 1 0 0 1 1 2 3 2.025181 1 0.370000 2.950000 0.468354 0.520000 0.380000 0.680000 0.520000 0.532660 0.520000 0 4.500000e-01 6.100000e-01 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A rs17851045 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 T A T T Valid Somatic Phase_I WXS targeted Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:25380275T>A ENST00000256078.4 - 3 246 c.183A>T c.(181-183)caA>caT p.Q61H KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.Q61H(153) 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) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 153 Substitution - Missense(153) 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 . . . . . . . . . . T 22.100000 4.243092 0.799120 . . ENSG00000133703 ENST00000311936;ENST00000256078 D;D 0.84146 -1.81;-1.81 5.770000 5.770000 0.911460 Small GTP-binding protein domain (1); 0.049057 0.85682 D 0.000000 D 0.87265 0.6134 M 0.91140 3.18 0.807220 D 1.000000 B;B 0.33413 0.411;0.09 B;B 0.32724 0.092;0.151 D 0.87829 0.2643 10 0.72032 D 0.01 . 9.983600 0.418280 0.0:0.0752:0.0:0.9248 rs17851045 61;61 P01116-2;P01116 .;RASK_HUMAN H 61 ENSP00000308495:Q61H;ENSP00000256078:Q61H ENSP00000256078:Q61H Q - 3 2 KRAS 25271542 1 0.714170 1 0.803570 9.990000e-01 0.989320 2.240000 0.430880 2.326000 0.789060 0.533000 0.621200 CAA TCGA-HZ-7922-01A-11D-2154-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 185 285 0 47 1 1 56 64 0 47 2 1 1 513 1006 1 864 8 1 1.000000 184 284 0 47 2 -20.000000 1 1 0 0 1 0.370000 2.950000 0 0 ARID2 196528 broad.mit.edu 37 12 46231283 46231283 + Missense_Mutation SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:46231283A>G ENST00000334344.6 + 10 1295 c.1123A>G c.(1123-1125)Atg>Gtg p.M375V ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) TTTTTCAGGCATGGAAATTTT 0.308000 N, S, F hepatocellular carcinoma Rec yes 12 12q12 196528 AT rich interactive domain 2 E 0 SO:0001583 missense ENST00000334344.6 1 1 hg19 CCDS31783.1 . . . . . . . . . . A 16.230000 3.065763 0.555390 . . ENSG00000189079 ENST00000334344;ENST00000422737;ENST00000444670 T;T 0.43294 0.95;0.95 5.330000 5.330000 0.759180 . 0.000000 0.85682 D 0.000000 T 0.60209 0.2251 L 0.59436 1.845 0.807220 D 1.000000 P;P;P 0.52577 0.954;0.799;0.865 D;P;P 0.66351 0.943;0.468;0.824 T 0.63233 -0.6683 10 0.72032 D 0.01 -9.3805 15.300600 0.739490 1.0:0.0:0.0:0.0 . 375;226;375 Q68CP9-3;F8WCU9;Q68CP9 .;.;ARID2_HUMAN V 375;226;4 ENSP00000335044:M375V;ENSP00000415650:M226V ENSP00000335044:M375V M + 1 0 ARID2 44517550 1 0.714170 1 0.803570 5.110000e-01 0.341040 9.339000 0.967970 2.011000 0.590260 0.260000 0.189580 ATG TCGA-HZ-7922-01A-11D-2154-08 ARID2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318380.2 1 0 1 149 535 0 80 1 9.901846e-01 6 22 0 80 2 0 0 0 0 0 2 1 1.000000 149 529 0 80 2 -20.000000 1 1 0 0 1 2 2 4 2.262849 1 0.370000 2.950000 0.527382 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 KCNA6 3742 broad.mit.edu 37 12 4920010 4920010 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:4920010C>T ENST00000280684.3 + 1 1669 c.803C>T c.(802-804)aCg>aTg p.T268M RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.T268M P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 49 Dalfampridine(DB06637) CTGGTGGAGACGCTGTGCATT 0.562000 HNSCC(72;0.22) 0 SO:0001583 missense ENST00000280684.3 1 1 hg19 CCDS8534.1 . . . . . . . . . . C 18.990000 3.738897 0.693040 . . ENSG00000151079 ENST00000433855;ENST00000280684 D;D 0.98400 -4.91;-4.91 5.280000 4.400000 0.530420 Ion transport (1); 0.000000 0.85682 D 0.000000 D 0.98798 0.9595 M 0.83774 2.66 0.584320 D 0.999998 D 0.89917 1.0 D 0.80764 0.994 D 0.99694 1.1002 10 0.87932 D 0 . 13.185200 0.596770 0.0:0.924:0.0:0.076 . 268 P17658 KCNA6_HUMAN M 268 ENSP00000408321:T268M;ENSP00000280684:T268M ENSP00000280684:T268M T + 2 0 KCNA6 4790271 1 0.714170 9.250000e-01 0.367890 9.840000e-01 0.730920 7.592000 0.826760 1.469000 0.480830 0.655000 0.942530 ACG TCGA-HZ-7922-01A-11D-2154-08 KCNA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398909.1 0 0 0 18 563 0 90 0 0 0 1 0 90 2 0 0 0 0 0 2 1 0.999981 16 561 0 90 2 -3.731561 1 1 0 0 1 2 2 4 2.236184 1 0.370000 2.950000 0.522076 0.230000 0.130000 1.000000 0.220000 0.317579 0.230000 0 1.700000e-01 3.200000e-01 SPRYD3 84926 broad.mit.edu 37 12 53459657 53459657 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:53459657C>T ENST00000301463.4 - 11 1374 c.1288G>A c.(1288-1290)Ggg>Agg p.G430R SPRYD3_ENST00000547837.1_Missense_Mutation_p.G467R NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 p.G430W(1) 17 ACTTTCTCCCCGCAGCTCAGC 0.567000 OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 Substitution - Missense(1) SO:0001583 missense ENST00000301463.4 1 1 hg19 CCDS8845.1 . . . . . . . . . . C 24.400000 4.526414 0.856000 . . ENSG00000167778 ENST00000301463;ENST00000547837 T;T 0.76839 -1.05;-1.05 5.290000 5.290000 0.746850 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1); 0.063055 0.64402 D 0.000008 D 0.82912 0.5140 L 0.49778 1.585 0.584320 D 0.999999 D 0.69078 0.997 P 0.59056 0.851 T 0.83279 -0.0039 10 0.51188 T 0.08 . 16.809800 0.857160 0.0:1.0:0.0:0.0 . 430 Q8NCJ5 SPRY3_HUMAN R 430;467 ENSP00000301463:G430R;ENSP00000449452:G467R ENSP00000301463:G430R G - 1 0 SPRYD3 51745924 1 0.714170 9.990000e-01 0.593770 9.260000e-01 0.560500 5.386000 0.662380 2.642000 0.896230 0.563000 0.778840 GGG TCGA-HZ-7922-01A-11D-2154-08 SPRYD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407264.1 1 0 1 136 452 0 73 1 1 59 201 0 73 2 0 0 0 0 0 2 1 1.000000 133 444 0 73 2 -3.678004 1 1 0 0 1 2 2 4 2.238683 1 0.370000 2.950000 0.522076 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 RAB3IP 117177 broad.mit.edu 37 12 70209146 70209146 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:70209146G>A ENST00000247833.7 + 11 1679 c.1303G>A c.(1303-1305)Gat>Aat p.D435N RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000550536.1_Missense_Mutation_p.D451N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|AC025263.3_ENST00000550437.1_Intron RAB3A interacting protein 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TTGTATAGTTGATCAGATGTT 0.363000 0 SO:0001583 missense ENST00000247833.7 1 1 hg19 CCDS8995.1 . . . . . . . . . . G 22.100000 4.239138 0.798000 . . ENSG00000127328 ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847 T;T;T;T;T;T 0.40756 1.02;1.02;1.02;1.02;1.02;1.02 5.650000 5.650000 0.869990 . 0.046748 0.85682 D 0.000000 T 0.54598 0.1868 L 0.29908 0.895 0.807220 D 1.000000 D 0.69078 0.997 D 0.77004 0.989 T 0.48592 -0.9022 10 0.34782 T 0.22 . 19.730800 0.961810 0.0:0.0:1.0:0.0 . 451 Q96QF0 RAB3I_HUMAN N 435;229;451;229;229;142 ENSP00000247833:D435N;ENSP00000323349:D229N;ENSP00000447300:D451N;ENSP00000448773:D229N;ENSP00000448027:D229N;ENSP00000448102:D142N ENSP00000247833:D435N D + 1 0 RAB3IP 68495413 1 0.714170 1 0.803570 9.600000e-01 0.627990 9.476000 0.978230 2.674000 0.910120 0.591000 0.815410 GAT TCGA-HZ-7922-01A-11D-2154-08 RAB3IP-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280671.2 1 0 1 96 420 0 66 0 9.701868e-01 0 27 0 66 2 0 0 0 0 0 2 1 1.000000 95 418 0 66 2 -20.000000 1 1 0 0 1 2 2 4 2.238890 1 0.370000 2.950000 0.531285 0.990000 0.990000 1.000000 1.000000 0.999969 0.990000 1 9.900000e-01 1 GTF3A 2971 broad.mit.edu 37 13 28001293 28001293 + Missense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:28001293G>T ENST00000381140.4 + 2 460 c.266G>T c.(265-267)cGc>cTc p.R89L GTF3A_ENST00000470606.1_3'UTR NM_002097.2 NP_002088 Q92664 TF3A_HUMAN general transcription factor IIIA 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) CATCTGAGCCGCCACATTCTG 0.453000 0 SO:0001583 missense ENST00000381140.4 1 1 hg19 CCDS45019.1 . . . . . . . . . . G 22.800000 4.343156 0.820220 . . ENSG00000122034 ENST00000381140 D 0.96232 -3.95 5.050000 5.050000 0.679360 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.060233 0.64402 D 0.000003 D 0.96580 0.8884 L 0.38531 1.155 0.476590 D 0.999486 D 0.89917 1.0 D 0.87578 0.998 D 0.95247 0.8356 9 0.23891 T 0.37 -30.5797 16.945600 0.862290 0.0:0.0:1.0:0.0 . 89 Q92664 TF3A_HUMAN L 89 ENSP00000370532:R89L ENSP00000370532:R89L R + 2 0 GTF3A 26899293 1 0.714170 1 0.803570 5.980000e-01 0.368460 6.197000 0.721000 2.495000 0.841800 0.655000 0.942530 CGC TCGA-HZ-7922-01A-11D-2154-08 GTF3A-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000044281.2 1 0 1 27 77 0 16 1 1 94 236 0 16 2 0 0 0 0 0 2 1 1.000000 27 75 0 16 2 -4.540687 1 1 0 0 1 2 2 4 2.330876 1 0.370000 2.950000 0.540146 0.990000 0.990000 1.000000 1.000000 0.999983 0.990000 1 9.900000e-01 1 PCDH9 5101 broad.mit.edu 37 13 67802227 67802227 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:67802227C>A ENST00000377865.2 - 1 480 c.346G>T c.(346-348)Gtg>Ttg p.V116L PCDH9_ENST00000456367.1_Missense_Mutation_p.V116L|PCDH9_ENST00000544246.1_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L Q9HC56 PCDH9_HUMAN protocadherin 9 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GGGAGGATCACCACCTCAAGT 0.408000 0 SO:0001583 missense ENST00000377865.2 1 1 hg19 CCDS9444.1 . . . . . . . . . . C 13.510000 2.257728 0.398960 . . ENSG00000184226 ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861 T;T;T;T;T 0.26373 1.74;1.74;1.74;1.74;1.74 5.940000 5.940000 0.961940 Cadherin, N-terminal (1);Cadherin (3); 0.000000 0.85682 D 0.000000 T 0.31734 0.0806 L 0.28504 0.86 0.807220 D 1.000000 B;P;P;P 0.46784 0.043;0.596;0.859;0.884 B;B;P;P 0.49922 0.048;0.324;0.492;0.626 T 0.00472 -1.1719 10 0.28530 T 0.3 . 20.359100 0.988490 0.0:1.0:0.0:0.0 . 116;116;116;116 B7ZM79;Q5VT82;Q9HC56-2;Q9HC56 .;.;.;PCDH9_HUMAN L 116 ENSP00000442186:V116L;ENSP00000367096:V116L;ENSP00000401699:V116L;ENSP00000332060:V116L;ENSP00000367092:V116L ENSP00000332060:V116L V - 1 0 PCDH9 66700228 1 0.714170 1 0.803570 9.950000e-01 0.863560 7.818000 0.864160 2.816000 0.969490 0.561000 0.740990 GTG TCGA-HZ-7922-01A-11D-2154-08 PCDH9-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276387.1 1 0 0 52 544 0 68 0 6.585001e-02 0 5 0 68 2 0 0 0 0 0 2 1 1.000000 51 537 0 68 2 -14.507670 1 1 0 0 1 2 2 4 2.330876 1 0.370000 2.950000 0.540146 0.640000 0.480000 0.820000 0.640000 0.655403 0.640000 0 5.600000e-01 7.400000e-01 PCDH9 5101 broad.mit.edu 37 13 67802228 67802228 + Silent SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:67802228C>A ENST00000377865.2 - 1 479 c.345G>T c.(343-345)gtG>gtT p.V115V PCDH9_ENST00000456367.1_Silent_p.V115V|PCDH9_ENST00000544246.1_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V|PCDH9_ENST00000377861.3_Silent_p.V115V Q9HC56 PCDH9_HUMAN protocadherin 9 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GGAGGATCACCACCTCAAGTT 0.413000 0 SO:0001819 synonymous_variant ENST00000377865.2 0 1 hg19 CCDS9444.1 TCGA-HZ-7922-01A-11D-2154-08 PCDH9-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276387.1 0 0 0 52 551 1 67 0 6.486879e-02 0 5 1 67 2 0 0 0 0 0 2 1 0.999100 51 544 1 67 26 -13.936920 1 1 0 0 1 2 2 4 2.330876 1 0.370000 2.950000 0.540146 0.630000 0.480000 0.810000 0.640000 0.647833 0.630000 0 5.500000e-01 7.300000e-01 C14orf39 317761 broad.mit.edu 37 14 60945081 60945081 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:60945081C>T ENST00000321731.3 - 5 419 c.260G>A c.(259-261)cGt>cAt p.R87H NM_174978.2 NP_777638 Q8N1H7 S6OS1_HUMAN chromosome 14 open reading frame 39 30 TTCATGTTTACGAAAAACATC 0.264000 0 SO:0001583 missense ENST00000321731.3 1 1 hg19 CCDS9746.1 . . . . . . . . . . C 0.008000 -1.886518 0.005270 . . ENSG00000179008 ENST00000321731;ENST00000555476;ENST00000556799 T;T 0.41400 2.02;1.0 5.560000 1.870000 0.254900 . 0.424204 0.24945 N 0.034343 T 0.11580 0.0282 N 0.01109 -1.01 0.195750 N 0.999969 B 0.06786 0.001 B 0.01281 0.0 T 0.36720 -0.9736 10 0.02654 T 1 -3.7283 8.519600 0.332680 0.0:0.2298:0.0:0.7702 . 87 Q8N1H7 S6OS1_HUMAN H 87;58;87 ENSP00000324920:R87H;ENSP00000451665:R58H ENSP00000324920:R87H R - 2 0 C14orf39 60014834 9.950000e-01 0.382120 9.990000e-01 0.593770 3.000000e-03 0.035180 0.079000 0.147820 0.142000 0.189010 -1.969000 0.004660 CGT TCGA-HZ-7922-01A-11D-2154-08 C14orf39-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276948.1 1 0 1 41 159 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 1.000000 41 155 0 36 2 -20.000000 1 1 121372 7 35 1 2 2 4 2.298994 1 0.370000 2.950000 0.535124 0.990000 0.990000 1.000000 1.000000 0.999835 0.990000 1 9.900000e-01 1 MGRN1 23295 broad.mit.edu 37 16 4702743 4702743 + Nonsense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:4702743G>T ENST00000399577.5 + 4 454 c.361G>T c.(361-363)Gag>Tag p.E121* MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121* NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 18 CTACAGCCTGGAGTTCACCTT 0.662000 0 SO:0001587 stop_gained ENST00000399577.5 0 1 hg19 CCDS45402.1 . . . . . . . . . . G 25.500000 4.645878 0.879580 . . ENSG00000102858 ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343 . . . 5.400000 5.400000 0.781640 . 0.000000 0.85682 D 0.000000 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.56958 D 0.05 -33.4513 17.757900 0.884550 0.0:0.0:1.0:0.0 . . . . X 121 . ENSP00000262370:E121X E + 1 0 MGRN1 4642744 1 0.714170 1 0.803570 8.000000e-02 0.175280 9.813000 0.992860 2.537000 0.855490 0.561000 0.740990 GAG TCGA-HZ-7922-01A-11D-2154-08 MGRN1-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000432060.2 1 0 1 35 70 0 21 1 1 12 65 0 21 2 0 0 0 0 0 2 1 1.000000 33 68 0 21 2 -20.000000 1 1 0 0 1 1 2 3 2.008769 1 0.370000 2.950000 0.465014 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 RLTPR 146206 broad.mit.edu 37 16 67682073 67682073 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:67682073C>T ENST00000334583.6 + 14 1518 c.1190C>T c.(1189-1191)gCg>gTg p.A397V RLTPR_ENST00000545661.1_Intron NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) ACCGGCAGGGCGGACTGGAGG 0.692000 0 SO:0001583 missense ENST00000334583.6 1 1 hg19 CCDS45513.1 . . . . . . . . . . C 7.612000 0.675061 0.148410 . . ENSG00000159753 ENST00000334583 T 0.13307 2.6 3.450000 -2.700000 0.060040 . 5.763050 0.00786 N 0.001302 T 0.07098 0.0180 N 0.14661 0.345 0.093100 N 1.000000 B 0.02656 0.0 B 0.01281 0.0 T 0.24404 -1.0161 10 0.21014 T 0.42 -19.0545 2.467900 0.045570 0.3865:0.2967:0.0:0.3169 . 397 Q6F5E8 LR16C_HUMAN V 397 ENSP00000334958:A397V ENSP00000334958:A397V A + 2 0 RLTPR 66239574 0 0.058580 0 0.037020 1.830000e-01 0.232600 -2.040000 0.014160 -0.255000 0.094860 0.462000 0.415740 GCG TCGA-HZ-7922-01A-11D-2154-08 RLTPR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000467858.1 1 0 0 33 62 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 1.000000 33 62 0 19 2 -20.000000 1 1 0 0 1 1 2 3 2.013105 1 0.370000 2.950000 0.468354 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 PSKH1 5681 broad.mit.edu 37 16 67961230 67961230 + Silent SNP C C G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:67961230C>G ENST00000291041.5 + 3 1130 c.960C>G c.(958-960)ccC>ccG p.P320P NM_006742.2 NP_006733.1 P11801 KPSH1_HUMAN protein serine kinase H1 12 Ovarian(137;0.192) GTCTCTAGCCCTGGCCTAGTG 0.587000 0 SO:0001819 synonymous_variant ENST00000291041.5 1 1 hg19 CCDS10851.1 TCGA-HZ-7922-01A-11D-2154-08 PSKH1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268882.3 1 0 1 167 311 0 78 1 1 18 50 0 78 2 0 0 0 0 0 2 1 1.000000 167 305 0 78 2 -16.713520 1 1 0 0 1 1 2 3 2.013105 1 0.370000 2.950000 0.468354 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 NCOR1 9611 broad.mit.edu 37 17 16089977 16089977 + Missense_Mutation SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:16089977A>G ENST00000268712.3 - 3 390 c.133T>C c.(133-135)Tcc>Ccc p.S45P NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 107 AGATGAGAGGAACGATAATCA 0.403000 0 SO:0001583 missense ENST00000268712.3 1 1 hg19 CCDS11175.1 . . . . . . . . . . A 11.660000 1.703488 0.302320 . . ENSG00000141027 ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577 T;T 0.47528 0.84;1.43 5.780000 4.700000 0.593000 . 0.000000 0.85682 D 0.000000 T 0.57257 0.2041 L 0.46157 1.445 0.807220 D 1.000000 B;P;P;P;D;D 0.69078 0.396;0.94;0.528;0.94;0.995;0.997 B;B;B;B;P;D 0.63793 0.135;0.441;0.244;0.441;0.829;0.918 T 0.56080 -0.8038 10 0.48119 T 0.1 -1.5681 11.127800 0.483280 0.928:0.0:0.072:0.0 . 45;45;45;45;45;45 E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2 .;.;.;.;NCOR1_HUMAN;. P 45 ENSP00000268712:S45P;ENSP00000379192:S45P ENSP00000268712:S45P S - 1 0 NCOR1 16030702 1 0.714170 9.690000e-01 0.413650 7.770000e-01 0.439750 4.544000 0.606910 1.006000 0.392110 0.460000 0.390300 TCC TCGA-HZ-7922-01A-11D-2154-08 NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131751.5 1 0 1 40 267 0 39 1 9.970874e-01 5 57 0 39 2 0 0 0 0 0 2 1 1.000000 40 264 0 39 2 -20.000000 1 1 0 0 1 0 2 2 1.724001 1 0.370000 2.950000 0.370000 0.700000 0.510000 0.910000 0.700000 0.713033 0.700000 0 6.000000e-01 8.100000e-01 DNAI2 64446 broad.mit.edu 37 17 72308199 72308199 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:72308199C>T ENST00000311014.6 + 12 1619 c.1552C>T c.(1552-1554)Cgg>Tgg p.R518W DNAI2_ENST00000579490.1_Missense_Mutation_p.R575W|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 39 CCGGGAGATGCGGCTGAAGGA 0.657000 Kartagener syndrome 0 SO:0001583 missense Familial Cancer Database Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome ENST00000311014.6 0 1 hg19 CCDS11697.1 . . . . . . . . . . C 21.800000 4.195638 0.789020 . . ENSG00000171595 ENST00000311014;ENST00000307504;ENST00000446837 T;T;T 0.34859 1.34;1.34;1.34 4.620000 3.640000 0.417300 . 0.058074 0.64402 D 0.000001 T 0.64527 0.2606 M 0.90705 3.14 0.584320 D 0.999993 D 0.89917 1.0 D 0.79784 0.993 T 0.71361 -0.4616 10 0.87932 D 0 -34.1547 12.000700 0.532280 0.315:0.685:0.0:0.0 . 518 Q9GZS0 DNAI2_HUMAN W 518;375;518 ENSP00000308312:R518W;ENSP00000302929:R375W;ENSP00000400252:R518W ENSP00000302929:R375W R + 1 2 DNAI2 69819794 1 0.714170 1 0.803570 9.820000e-01 0.717510 2.401000 0.445130 0.950000 0.377430 0.485000 0.478350 CGG TCGA-HZ-7922-01A-11D-2154-08 DNAI2-001 KNOWN NMD_exception|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000442537.1 0 0 0 5 202 0 44 0 0 0 0 44 2 0 0 0 0 0 2 1 0.936704 5 200 0 44 2 -3.004511 1 1 121396 11 40 1 0 2 2 1.713689 1 0.370000 2.950000 0.370000 0.140000 0.050000 0.280000 0.130000 0.153893 0.140000 0 8.000000e-02 2.100000e-01 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:7578263G>A ENST00000269305.4 - 6 775 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196* 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CCTTCCACTCGGATAAGATGC 0.552000 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 232 Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1) GRCh37 CM941329 TP53 M SO:0001587 stop_gained 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 . . . . . . . . . . G 14.020000 2.409843 0.427150 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315 . . . 5.410000 4.440000 0.537900 . 0.000000 0.85682 D 0.000000 . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.02654 T 1 -19.9531 12.304600 0.548950 0.0827:0.0:0.9173:0.0 . . . . X 196;196;196;196;196;196;185;103;64;103;64 . ENSP00000269305:R196X R - 1 2 TP53 7518988 1 0.714170 9.970000e-01 0.539660 2.300000e-02 0.107830 2.166000 0.424060 1.427000 0.472760 -0.140000 0.142260 CGA TCGA-HZ-7922-01A-11D-2154-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 83 129 0 42 0 9.999989e-01 1 36 0 42 2 1 1 458 825 2 1024 9 1 1.000000 83 129 0 41 2 -13.031110 1 1 121412 1 40 1 0 2 2 1.724001 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 KDM6B 23135 broad.mit.edu 37 17 7752472 7752472 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:7752472G>A ENST00000448097.2 + 11 3197 c.2866G>A c.(2866-2868)Gca>Aca p.A956T KDM6B_ENST00000254846.5_Missense_Mutation_p.A956T O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 37 GCTGCCCCCCGCACAGGCCAA 0.692000 0 SO:0001583 missense ENST00000448097.2 0 1 hg19 . . . . . . . . . . G 7.985000 0.752026 0.157780 . . ENSG00000132510 ENST00000254846;ENST00000448097 T;T 0.34072 1.38;1.39 4.390000 -1.750000 0.080310 . 1.071470 0.07336 N 0.879937 T 0.14013 0.0339 N 0.14661 0.345 0.093100 N 1.000000 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.26467 -1.0102 10 0.05833 T 0.94 0.0123 0.783700 0.010450 0.2956:0.1624:0.3758:0.1662 . 956;956 O15054;O15054-1 KDM6B_HUMAN;. T 956 ENSP00000254846:A956T;ENSP00000412513:A956T ENSP00000254846:A956T A + 1 0 KDM6B 7693197 0 0.058580 0 0.037020 8.570000e-01 0.488990 -0.879000 0.041880 -0.031000 0.137810 -0.448000 0.055910 GCA TCGA-HZ-7922-01A-11D-2154-08 KDM6B-002 KNOWN basic protein_coding protein_coding OTTHUMT00000440248.1 0 0 0 4 77 0 29 0 2.314682e-01 0 15 0 29 2 0 0 0 0 0 2 1 0.889197 4 76 0 29 2 -7.630378 1 1 119674 3 34 1 0 2 2 1.724001 1 0.370000 2.950000 0.370000 0.290000 0.100000 0.610000 0.260000 0.318837 0.290000 0 1.700000e-01 4.500000e-01 CAPNS1 826 broad.mit.edu 37 19 36633201 36633201 + Splice_Site SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:36633201G>A ENST00000246533.3 + 3 807 c.e3-1 CAPNS1_ENST00000588780.1_Splice_Site|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000590874.1_Splice_Site|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588815.1_Splice_Site NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCTCTTCGCAGCGAGGCGGCT 0.652000 Esophageal Squamous(129;1541 1691 5780 18353 34150) 0 SO:0001630 splice_region_variant ENST00000246533.3 1 1 hg19 CCDS12489.1 . . . . . . . . . . G 15.930000 2.978756 0.537200 . . ENSG00000126247 ENST00000246533 . . . 5.170000 5.170000 0.711590 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 14.522500 0.678590 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . CAPNS1 41325041 1 0.714170 9.680000e-01 0.411970 5.220000e-01 0.344380 5.289000 0.656560 2.564000 0.864990 0.561000 0.740990 . TCGA-HZ-7922-01A-11D-2154-08 CAPNS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457411.2 1 0 1 165 444 0 88 1 9.957494e-01 10 15 0 88 2 0 0 0 0 0 2 1 1.000000 161 434 0 86 2 -20.000000 1 1 0 0 1 2 2 4 2.258998 1 0.370000 2.950000 0.526066 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 FCGBP 8857 broad.mit.edu 37 19 40368392 40368392 + Missense_Mutation SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:40368392T>C ENST00000221347.6 - 28 12963 c.12956A>G c.(12955-12957)gAc>gGc p.D4319G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCAAAGAATGTCACGGTCCCC 0.622000 0 SO:0001583 missense ENST00000221347.6 1 1 hg19 CCDS12546.1 . . . . . . . . . . T 3.672000 -0.067331 0.072730 . . ENSG00000090920 ENST00000221347 T 0.78246 -1.16 4.080000 4.080000 0.476270 Uncharacterised domain, cysteine-rich (2); 0.412810 0.23912 U 0.043327 T 0.74442 0.3717 M 0.61703 1.905 0.222800 N 0.999235 B 0.21071 0.051 B 0.22386 0.039 T 0.68205 -0.5470 10 0.54805 T 0.06 . 12.440400 0.556210 0.0:0.0:0.0:1.0 . 4319 Q9Y6R7 FCGBP_HUMAN G 4319 ENSP00000221347:D4319G ENSP00000221347:D4319G D - 2 0 FCGBP 45060232 0 0.058580 7.590000e-01 0.313400 4.000000e-02 0.135500 0.602000 0.241340 1.848000 0.536770 0.254000 0.183690 GAC TCGA-HZ-7922-01A-11D-2154-08 FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462507.1 1 0 0 77 972 0 185 0 3.895057e-01 0 18 0 185 2 0 0 0 0 0 2 1 1.000000 74 893 0 194 2 -15.187380 1 1 0 0 1 2 2 4 2.258998 1 0.370000 2.950000 0.526066 0.530000 0.410000 1.000000 0.530000 0.574331 0.530000 0 4.700000e-01 6.200000e-01 PHLDB3 653583 broad.mit.edu 37 19 44006338 44006338 + Missense_Mutation SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:44006338T>C ENST00000292140.5 - 3 671 c.311A>G c.(310-312)cAg>cGg p.Q104R PHLDB3_ENST00000599242.1_Missense_Mutation_p.Q104R NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 7 Prostate(69;0.0153) CTCCAGCTGCTGTCCTTGCAG 0.672000 0 SO:0001583 missense ENST00000292140.5 1 0 hg19 CCDS12621.2 . . . . . . . . . . T 8.751000 0.921249 0.179820 . . ENSG00000176531 ENST00000292140 T 0.46063 0.88 4.020000 2.950000 0.342190 . 0.735759 0.12304 N 0.480900 T 0.26048 0.0635 L 0.29908 0.895 0.229890 N 0.998464 P;B 0.42584 0.784;0.139 B;B 0.36808 0.233;0.039 T 0.06373 -1.0830 10 0.24483 T 0.36 . 6.699200 0.232150 0.211:0.0:0.0:0.789 . 104;104 Q6NSJ2-2;Q6NSJ2 .;PHLB3_HUMAN R 104 ENSP00000292140:Q104R ENSP00000292140:Q104R Q - 2 0 PHLDB3 48698178 1 0.714170 9.400000e-01 0.379240 1.720000e-01 0.227750 2.318000 0.437790 0.512000 0.282570 0.254000 0.183690 CAG TCGA-HZ-7922-01A-11D-2154-08 PHLDB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319643.2 1 0 1 9 34 0 13 0 1.322849e-01 0 3 0 13 2 0 0 0 0 0 2 1 0.995427 9 33 0 12 2 -18.768950 1 1 0 0 1 2 2 4 2.321842 1 0.370000 2.950000 0.540146 0.990000 0.820000 1.000000 1.000000 0.989646 0.990000 1 9.900000e-01 1 VRK3 51231 broad.mit.edu 37 19 50504080 50504080 + Silent SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:50504080T>C ENST00000599538.1 - 6 1243 c.579A>G c.(577-579)tcA>tcG p.S193S VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000601912.1_Silent_p.S143S|VRK3_ENST00000601341.1_Silent_p.S143S|VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_Missense_Mutation_p.Q13R|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000594092.1_Silent_p.S193S Q8IV63 VRK3_HUMAN vaccinia related kinase 3 23 all_neural(266;0.0459)|Ovarian(192;0.0481) TCTGTGGTCCTGAGTCACAGG 0.542000 Pancreas(6;90 181 4352 12603 17050 34726 35237 44094) 0 SO:0001819 synonymous_variant ENST00000599538.1 1 1 hg19 CCDS12791.1 . . . . . . . . . . T 9.531000 1.110884 0.207140 . . ENSG00000105053 ENST00000443401 T 0.29397 1.57 3.450000 -0.215000 0.131570 . . . . . T 0.10937 0.0267 . . . 0.093100 N 0.999994 B 0.09022 0.002 B 0.12156 0.007 T 0.35724 -0.9777 8 0.02654 T 1 -1.2996 6.412700 0.217000 0.0:0.5503:0.0:0.4497 . 13 B4DGW1 . R 13 ENSP00000414907:Q13R ENSP00000414907:Q13R Q - 2 0 VRK3 55195892 1.000000e-03 0.127200 1.100000e-02 0.149720 9.000000e-03 0.068530 -0.829000 0.044150 -0.078000 0.127300 0.533000 0.621200 CAG TCGA-HZ-7922-01A-11D-2154-08 VRK3-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000464815.1 0 0 1 26 162 0 24 1 9.999999e-01 25 153 0 24 2 0 0 0 0 0 2 1 1.000000 25 160 0 24 2 -20.000000 1 1 0 0 1 2 5 7 2.904407 1 0.370000 2.950000 0.632063 0.990000 0.890000 1.000000 1.000000 0.993801 0.990000 1 9.900000e-01 1 KLK1 3816 broad.mit.edu 37 19 51322554 51322554 + Missense_Mutation SNP A A T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:51322554A>T ENST00000301420.2 - 5 720 c.685T>A c.(685-687)Tca>Aca p.S229T KLK1_ENST00000448701.2_Missense_Mutation_p.S127T|CTD-2568A17.5_ENST00000326989.5_lincRNA NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 13 all_neural(266;0.0199) Aprotinin(DB06692) TAGCCCCATGATGTGACACCT 0.582000 0 SO:0001583 missense ENST00000301420.2 1 1 hg19 CCDS12804.1 . . . . . . . . . . a 17.350000 3.367908 0.615130 . . ENSG00000167748 ENST00000301420;ENST00000448701 D;D 0.92495 -3.05;-3.05 3.660000 2.640000 0.314450 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); . . . . D 0.95661 0.8589 M 0.90977 3.165 0.238090 N 0.996785 P 0.52577 0.954 D 0.64321 0.924 D 0.88183 0.2872 9 0.87932 D 0 . 5.740400 0.180890 0.8762:0.0:0.1238:0.0 . 229 P06870 KLK1_HUMAN T 229;127 ENSP00000301420:S229T;ENSP00000400994:S127T ENSP00000301420:S229T S - 1 0 KLK1 56014366 1 0.714170 1.100000e-02 0.149720 1.400000e-02 0.085840 5.317000 0.658220 0.764000 0.331970 0.459000 0.354650 TCA TCGA-HZ-7922-01A-11D-2154-08 KLK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464135.2 1 0 1 175 247 0 61 1 1 4 416 0 61 2 0 0 0 0 0 2 1 1.000000 174 242 0 60 2 -20.000000 1 1 0 0 1 2 5 7 2.904407 1 0.370000 2.950000 0.632063 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 KLK1 3816 broad.mit.edu 37 19 51322555 51322555 + Silent SNP T T G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 T G T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:51322555T>G ENST00000301420.2 - 5 719 c.684A>C c.(682-684)acA>acC p.T228T KLK1_ENST00000448701.2_Silent_p.T126T|CTD-2568A17.5_ENST00000326989.5_lincRNA NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 13 all_neural(266;0.0199) Aprotinin(DB06692) AGCCCCATGATGTGACACCTT 0.577000 0 SO:0001819 synonymous_variant ENST00000301420.2 1 1 hg19 CCDS12804.1 TCGA-HZ-7922-01A-11D-2154-08 KLK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464135.2 1 0 1 174 248 0 61 1 1 4 409 0 61 2 0 0 0 0 0 2 1 1.000000 173 243 0 60 2 -20.000000 1 1 0 0 1 2 5 7 2.904407 1 0.370000 2.950000 0.632063 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 NLRP4 147945 broad.mit.edu 37 19 56369355 56369355 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:56369355C>T ENST00000301295.6 + 3 1018 c.596C>T c.(595-597)aCg>aTg p.T199M NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M|NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 p.T199M(1) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) TTGCCGCCAACGAGTTTGGCT 0.517000 1 Substitution - Missense(1) SO:0001583 missense ENST00000301295.6 1 1 hg19 CCDS12936.1 . . . . . . . . . . C 8.234000 0.805414 0.164670 4.54E-4 1.16E-4 ENSG00000160505 ENST00000301295;ENST00000346986 T;T 0.78707 -1.2;-1.2 4.110000 -0.400000 0.124110 NACHT nucleoside triphosphatase (1); . . . . T 0.60586 0.2280 L 0.33485 1.01 0.093100 N 1.000000 B;B;B 0.32128 0.063;0.051;0.357 B;B;B 0.24394 0.025;0.024;0.053 T 0.45249 -0.9274 9 0.33940 T 0.23 . 6.757000 0.235200 0.0:0.4886:0.0:0.5114 . 199;124;199 Q96MN2-2;Q96MN2-3;Q96MN2 .;.;NALP4_HUMAN M 199 ENSP00000301295:T199M;ENSP00000344787:T199M ENSP00000301295:T199M T + 2 0 NLRP4 61061167 0 0.058580 1.000000e-03 0.086480 0 0.004340 -0.970000 0.038100 0.152000 0.191880 -1.020000 0.024450 ACG TCGA-HZ-7922-01A-11D-2154-08 NLRP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457367.2 1 0 1 196 751 0 104 0 0 0 0 104 2 0 0 0 0 0 2 1 1.000000 195 740 0 103 2 -20.000000 1 1 121412 9 42 1 2 4 6 2.901888 1 0.370000 2.950000 0.631665 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 CDC14A 8556 broad.mit.edu 37 1 100843110 100843110 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:100843110C>A ENST00000336454.3 + 3 504 c.149C>A c.(148-150)gCa>gAa p.A50E CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E|CDC14A_ENST00000370125.2_Missense_Mutation_p.A50E|AC104457.1_ENST00000401248.1_RNA|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000542213.1_5'UTR NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) AGTTTCTATGCAGATTTTGGA 0.279000 0 SO:0001583 missense ENST00000336454.3 1 1 hg19 CCDS769.1 . . . . . . . . . . C 15.970000 2.988957 0.539340 . . ENSG00000079335 ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534 T;T;T;T;T;T 0.45276 0.9;0.9;0.9;0.9;0.9;0.9 5.640000 5.640000 0.866020 . 0.000000 0.85682 D 0.000000 T 0.31544 0.0800 M 0.65677 2.01 0.807220 D 1.000000 P;B;P;P;B 0.37708 0.471;0.091;0.471;0.606;0.055 B;B;B;B;B 0.33799 0.082;0.041;0.118;0.17;0.018 T 0.17077 -1.0381 10 0.38643 T 0.18 -14.0376 18.465400 0.907520 0.0:1.0:0.0:0.0 . 50;50;50;50;50 A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9 .;.;CC14A_HUMAN;.;. E 51;50;50;50;50;50 ENSP00000388501:A51E;ENSP00000359143:A50E;ENSP00000354916:A50E;ENSP00000359142:A50E;ENSP00000336739:A50E;ENSP00000442543:A50E ENSP00000336739:A50E A + 2 0 CDC14A 100615698 1 0.714170 1 0.803570 9.690000e-01 0.656310 4.228000 0.586190 2.660000 0.904300 0.455000 0.322230 GCA TCGA-HZ-7922-01A-11D-2154-08 CDC14A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000030220.1 1 0 1 29 207 0 30 0 3.640681e-01 1 9 0 30 2 0 0 0 0 0 2 1 1.000000 29 205 0 30 2 -13.560680 1 1 0 0 1 1 2 3 2.049050 1 0.370000 2.950000 0.468354 0.790000 0.540000 1.000000 1.000000 0.797519 0.790000 0 6.600000e-01 9.300000e-01 KCNT2 343450 broad.mit.edu 37 1 196227479 196227479 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:196227479C>T ENST00000294725.9 - 26 3971 c.3056G>A c.(3055-3057)cGa>cAa p.R1019Q KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R952Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R995Q Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 p.R1019Q(1) 97 GCTCAGTCTTCGGGCCCACTG 0.512000 1 Substitution - Missense(1) SO:0001583 missense ENST00000294725.9 1 1 hg19 CCDS1384.1 . . . . . . . . . . C 23.700000 4.444207 0.839930 . . ENSG00000162687 ENST00000367433;ENST00000367431;ENST00000294725 T;T;T 0.23950 1.88;1.93;2.23 5.740000 4.830000 0.623500 . 0.000000 0.49305 D 0.000152 T 0.49847 0.1581 M 0.78916 2.43 0.807220 D 1.000000 D;D;D;D 0.76494 0.999;0.99;0.967;0.983 D;P;P;P 0.65443 0.935;0.674;0.556;0.474 T 0.51803 -0.8659 10 0.41790 T 0.15 -7.0387 14.714800 0.692590 0.0:0.9307:0.0:0.0693 . 984;995;952;1019 Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3 .;.;.;KCNT2_HUMAN Q 995;953;1019 ENSP00000356403:R995Q;ENSP00000356401:R953Q;ENSP00000294725:R1019Q ENSP00000294725:R1019Q R - 2 0 KCNT2 194494102 1 0.714170 9.940000e-01 0.499520 9.880000e-01 0.763860 7.487000 0.813280 1.437000 0.474720 -0.148000 0.137560 CGA TCGA-HZ-7922-01A-11D-2154-08 KCNT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086418.2 1 0 1 120 312 0 37 0 0 0 1 0 37 2 0 0 0 0 0 2 1 1.000000 120 308 0 37 2 -7.488261 1 1 121408 1 31 1 1 2 3 2.030260 1 0.370000 2.950000 0.468354 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 TRIM58 25893 broad.mit.edu 37 1 248039221 248039221 + Silent SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:248039221C>T ENST00000366481.3 + 6 939 c.891C>T c.(889-891)ccC>ccT p.P297P OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 p.P297P(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGCTGGATCCCGCCACGGCGC 0.537000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000366481.3 1 1 hg19 CCDS1636.1 TCGA-HZ-7922-01A-11D-2154-08 TRIM58-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000096860.1 1 0 1 57 143 0 33 0 0 0 1 0 33 2 0 0 0 0 0 2 1 1.000000 57 141 0 32 2 -5.515517 1 1 121412 2 30 1 1 2 3 2.030260 1 0.370000 2.950000 0.468354 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 C1orf173 0 broad.mit.edu 37 1 75037471 75037471 + Missense_Mutation SNP G G A rs138615520 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:75037471G>A ENST00000326665.5 - 14 4141 c.3923C>T c.(3922-3924)gCg>gTg p.A1308V C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 ERIC3_HUMAN p.A1308V(1) 184 GTCCTGCATCGCTTCTGTCTC 0.542000 1 Substitution - Missense(1) SO:0001583 missense ENST00000326665.5 1 1 hg19 CCDS30755.1 . . . . . . . . . . G 0.460000 -0.889610 0.025110 . . ENSG00000178965 ENST00000326665 T 0.09723 2.95 3.580000 -4.770000 0.032190 . . . . . T 0.00967 0.0032 N 0.03608 -0.345 0.093100 N 1.000000 B 0.02656 0.0 B 0.01281 0.0 T 0.47598 -0.9105 9 0.28530 T 0.3 -0.0061 3.793500 0.087300 0.4175:0.0:0.3159:0.2666 . 1308 Q5RHP9 CA173_HUMAN V 1308 ENSP00000322609:A1308V ENSP00000322609:A1308V A - 2 0 C1orf173 74810059 0 0.058580 0 0.037020 7.000000e-03 0.059690 -0.543000 0.060840 -0.741000 0.047970 -0.672000 0.038020 GCG TCGA-HZ-7922-01A-11D-2154-08 C1orf173-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026516.1 1 0 1 117 729 0 126 0 0 0 0 126 2 0 0 0 0 0 2 1 1.000000 118 723 0 124 2 -20.000000 1 1 0 0 1 1 2 3 2.049050 1 0.370000 2.950000 0.468354 0.880000 0.730000 1.000000 1.000000 0.887127 0.880000 1 8.000000e-01 9.600000e-01 ELTD1 64123 broad.mit.edu 37 1 79392719 79392719 + Missense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:79392719G>T ENST00000370742.3 - 8 998 c.935C>A c.(934-936)tCt>tAt p.S312Y NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 69 GAAGTTGTCAGATGATGAAAG 0.318000 0 SO:0001583 missense ENST00000370742.3 1 1 hg19 CCDS41352.1 . . . . . . . . . . G 14.920000 2.677924 0.478860 . . ENSG00000162618 ENST00000370742 T 0.10668 2.85 6.020000 5.080000 0.687300 Domain of unknown function DUF3497 (1); 0.387514 0.33075 N 0.005305 T 0.13157 0.0319 L 0.47716 1.5 0.353060 D 0.783468 D 0.60160 0.987 D 0.65323 0.934 T 0.03981 -1.0987 9 . . . . 11.966300 0.530380 0.0:0.1317:0.7313:0.137 . 312 Q9HBW9 ELTD1_HUMAN Y 312 ENSP00000359778:S312Y . S - 2 0 ELTD1 79165307 1 0.714170 1 0.803570 3.790000e-01 0.301060 2.927000 0.489000 1.495000 0.485490 0.544000 0.684100 TCT TCGA-HZ-7922-01A-11D-2154-08 ELTD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026859.1 1 0 1 47 310 0 52 0 9.320580e-01 0 32 0 52 2 0 0 0 0 0 2 1 1.000000 47 308 0 52 2 -19.681960 1 1 0 0 1 1 2 3 2.049050 1 0.370000 2.950000 0.468354 0.840000 0.630000 1.000000 1.000000 0.847207 0.840000 0 7.300000e-01 9.600000e-01 KRTAP6-1 337966 broad.mit.edu 37 21 31986063 31986063 + Missense_Mutation SNP C C T rs28567421 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr21:31986063C>T ENST00000329122.2 - 1 186 c.161G>A c.(160-162)cGc>cAc p.R54H KRTAP20-1_ENST00000334664.2_5'Flank NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 10 ACAGAGGGAGCGGGAGCCATA 0.587000 0 SO:0001583 missense ENST00000329122.2 1 1 hg19 CCDS13602.1 3 0.0013736263736263737 3 0.006097560975609756 0 0.0 0 0.0 0 0.0 C 4.286000 0.052327 0.082910 0.003404 4.65E-4 ENSG00000184724 ENST00000329122 T 0.20069 2.1 4.880000 0.801000 0.186790 . 0.870871 0.09244 U 0.828807 T 0.09158 0.0226 . . . 0.093100 N 1.000000 B 0.11235 0.004 B 0.08055 0.003 T 0.36040 -0.9764 9 0.87932 D 0 . 1.117500 0.017180 0.1567:0.4229:0.1522:0.2683 rs28567421 54 Q3LI64 KRA61_HUMAN H 54 ENSP00000332690:R54H ENSP00000332690:R54H R - 2 0 KRTAP6-1 30907934 1.000000e-03 0.127200 1.000000e-03 0.086480 1.180000e-01 0.200600 -0.881000 0.041790 0.043000 0.157460 0.643000 0.837060 CGC TCGA-HZ-7922-01A-11D-2154-08 KRTAP6-1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128240.2 1 0 1 120 422 0 141 0 0 0 0 141 2 0 0 0 0 0 2 1 1.000000 120 419 0 140 2 -2.755114 1 1 121408 87 54 1 0 1 1 1.400316 1 0.370000 2.950000 0.226994 0.930000 0.800000 1.000000 0.970000 0.929642 0.930000 1 8.700000e-01 9.800000e-01 AGPAT3 56894 broad.mit.edu 37 21 45389013 45389013 + Silent SNP C C A rs146737372 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr21:45389013C>A ENST00000398063.2 + 4 855 c.363C>A c.(361-363)ctC>ctA p.L121L AGPAT3_ENST00000327505.2_Silent_p.L121L|AGPAT3_ENST00000398061.1_Silent_p.L121L|AGPAT3_ENST00000398058.1_Silent_p.L121L|AGPAT3_ENST00000291572.8_Silent_p.L121L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.L121L NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 11 CCAAGGTCCTCGCTAAGAAGG 0.637000 Pancreas(60;623 1650 5574 52796) 0 SO:0001819 synonymous_variant ENST00000398063.2 0 1 hg19 CCDS13703.1 TCGA-HZ-7922-01A-11D-2154-08 AGPAT3-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195722.1 0 0 0 8 225 0 47 0 9.014672e-01 0 118 0 47 2 0 0 0 0 0 2 1 0.989357 8 223 0 46 2 -2.886319 1 1 121412 79 50 1 0 2 2 1.696981 1 0.370000 2.950000 0.370000 0.190000 0.080000 0.340000 0.180000 0.205493 0.190000 0 1.300000e-01 2.700000e-01 COL6A2 1292 broad.mit.edu 37 21 47538549 47538549 + Missense_Mutation SNP C C T rs142880107 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr21:47538549C>T ENST00000300527.4 + 13 1242 c.1138C>T c.(1138-1140)Cgc>Tgc p.R380C COL6A2_ENST00000357838.4_Missense_Mutation_p.R380C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R380C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R380C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R380C NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 43 Breast(49;0.245) CCGCCCAGGACGCAGAGGGCC 0.682000 0 SO:0001583 missense ENST00000300527.4 1 0 hg19 CCDS13728.1 . . . . . . . . . . C 16.150000 3.040552 0.550030 2.27E-4 0.0 ENSG00000142173 ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763 D;D;D;D;D 0.93426 -3.2;-3.2;-3.22;-3.22;-3.2 4.690000 4.690000 0.590740 . 0.053823 0.64402 D 0.000001 D 0.95987 0.8693 M 0.67517 2.055 0.807220 D 1.000000 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.79784 0.993;0.987;0.978 D 0.96089 0.9060 10 0.52906 T 0.07 -16.3159 16.605200 0.848260 0.0:1.0:0.0:0.0 . 380;380;380 P12110;P12110-2;P12110-3 CO6A2_HUMAN;.;. C 380 ENSP00000300527:R380C;ENSP00000350497:R380C;ENSP00000312529:R380C;ENSP00000387115:R380C;ENSP00000380870:R380C ENSP00000300527:R380C R + 1 0 COL6A2 46362977 1 0.714170 1 0.803570 9.820000e-01 0.717510 4.537000 0.606430 2.151000 0.671560 0.591000 0.815410 CGC TCGA-HZ-7922-01A-11D-2154-08 COL6A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206971.1 0 0 1 34 64 0 17 1 1 5 561 0 17 2 0 0 0 0 0 2 1 1.000000 33 63 0 17 2 -20.000000 1 0 120968 3 34 1 0 2 2 1.696981 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 0.999995 0.990000 1 9.900000e-01 1 NEFH 4744 broad.mit.edu 37 22 29886317 29886317 + Silent SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:29886317G>A ENST00000310624.6 + 4 2721 c.2688G>A c.(2686-2688)gaG>gaA p.E896E NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 30 AGAAGGAAGAGGCTGAAGATA 0.512000 0 SO:0001819 synonymous_variant ENST00000310624.6 1 1 hg19 CCDS13858.1 TCGA-HZ-7922-01A-11D-2154-08 NEFH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321553.2 1 0 1 43 104 0 26 0 9.548104e-01 0 15 0 26 2 0 0 0 0 0 2 1 1.000000 43 102 0 26 2 -20.000000 1 1 0 0 1 2 2 4 2.299521 1 0.370000 2.950000 0.535124 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 TTN 7273 broad.mit.edu 37 2 179579858 179579858 + Silent SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:179579858G>A ENST00000591111.1 - 88 25328 c.25104C>T c.(25102-25104)agC>agT p.S8368S TTN_ENST00000342992.6_Silent_p.S7441S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.S8685S|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) ACTTCTTGCCGCTCCTAAGTT 0.443000 0 SO:0001819 synonymous_variant ENST00000591111.1 1 1 hg19 TCGA-HZ-7922-01A-11D-2154-08 TTN-019 PUTATIVE basic protein_coding protein_coding OTTHUMT00000460310.1 0 0 0 327 603 1 212 0 0 0 1 212 2 0 0 0 0 0 2 1 1.000000 324 599 0 209 2 -20.000000 1 1 0 0 1 0 2 2 1.805913 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ABCA12 26154 broad.mit.edu 37 2 215835096 215835096 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:215835096G>A ENST00000272895.7 - 37 5810 c.5591C>T c.(5590-5592)cCg>cTg p.P1864L ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 139 Renal(323;0.127) TCTTCTGTGCGGTGGGGAATA 0.358000 Ovarian(66;664 1488 5121 34295) 0 SO:0001583 missense ENST00000272895.7 1 1 hg19 CCDS33372.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 G 25.700000 4.669881 0.883480 2.27E-4 0.0 ENSG00000144452 ENST00000272895;ENST00000389661 D;D 0.96300 -3.97;-3.88 5.290000 5.290000 0.746850 . 0.000000 0.51477 D 0.000093 D 0.98071 0.9364 M 0.76838 2.35 0.807220 D 1.000000 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.998 D 0.98850 1.0758 10 0.87932 D 0 . 18.908400 0.924720 0.0:0.0:1.0:0.0 . 1864;1546 Q86UK0;Q86UK0-2 ABCAC_HUMAN;. L 1864;1546 ENSP00000272895:P1864L;ENSP00000374312:P1546L ENSP00000272895:P1864L P - 2 0 ABCA12 215543341 1 0.714170 1 0.803570 9.930000e-01 0.825480 7.752000 0.851410 2.640000 0.895330 0.650000 0.862430 CCG TCGA-HZ-7922-01A-11D-2154-08 ABCA12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337111.1 1 0 1 74 358 0 48 1 2.088696e-01 2 3 0 48 2 0 0 0 0 0 2 1 1.000000 74 358 0 48 2 -2.610414 1 1 121410 17 47 1 1 3 4 2.093159 1 0.370000 2.950000 0.479726 0.990000 0.910000 1.000000 1.000000 0.994112 0.990000 1 9.900000e-01 1 XDH 7498 broad.mit.edu 37 2 31625970 31625970 + Silent SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:31625970G>T ENST00000379416.3 - 3 189 c.141C>A c.(139-141)ggC>ggA p.G47G NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 74 Acute lymphoblastic leukemia(172;0.155) Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831) AAGCCCCGCAGCCCCCCTCTC 0.577000 Colon(66;682 1445 30109 40147) 0 SO:0001819 synonymous_variant ENST00000379416.3 1 1 hg19 CCDS1775.1 TCGA-HZ-7922-01A-11D-2154-08 XDH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216840.1 1 0 1 50 402 0 81 1 6.112028e-01 3 15 0 81 2 0 0 0 0 0 2 1 1.000000 50 400 0 80 2 -1.920854 0 1 0 0 1 1 2 3 2.017034 1 0.370000 2.950000 0.468354 0.700000 0.530000 0.900000 0.720000 0.717638 0.700000 0 6.100000e-01 8.100000e-01 DYSF 8291 broad.mit.edu 37 2 71795377 71795377 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:71795377G>A ENST00000258104.3 + 26 2996 c.2719G>A c.(2719-2721)Gtc>Atc p.V907I DYSF_ENST00000429174.2_Missense_Mutation_p.V907I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000413539.2_Missense_Mutation_p.V938I|DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 111 GTTTTCTGACGTCACGGGCAA 0.592000 0 SO:0001583 missense ENST00000258104.3 1 1 hg19 CCDS1918.1 . . . . . . . . . . G 9.616000 1.132447 0.210410 . . ENSG00000135636 ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041 D;D;D;D;D;D;D;D;D;D;D 0.83075 -1.67;-1.68;-1.68;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.68 4.940000 4.060000 0.473250 Ferlin/Peroxisome membrane (1); 0.213952 0.40385 N 0.001118 T 0.73040 0.3536 L 0.28344 0.845 0.395640 D 0.969175 B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.20261 0.039;0.039;0.039;0.011;0.043;0.005;0.012;0.012;0.011;0.003;0.002;0.011;0.011;0.007 B;B;B;B;B;B;B;B;B;B;B;B;B;B 0.23150 0.03;0.03;0.018;0.018;0.03;0.018;0.03;0.044;0.018;0.005;0.007;0.018;0.018;0.008 T 0.69228 -0.5200 10 0.46703 T 0.11 -30.2846 11.127300 0.483250 0.091:0.0:0.909:0.0 . 939;925;908;894;925;894;924;893;938;924;907;893;908;907 O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923 .;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN I 938;924;924;907;907;939;908;894;908;925;925 ENSP00000407046:V938I;ENSP00000387137:V924I;ENSP00000386547:V924I;ENSP00000398305:V907I;ENSP00000258104:V907I;ENSP00000386683:V939I;ENSP00000377678:V908I;ENSP00000386285:V894I;ENSP00000386512:V908I;ENSP00000386881:V925I;ENSP00000386617:V925I ENSP00000258104:V907I V + 1 0 DYSF 71648885 8.960000e-01 0.305650 5.930000e-01 0.287710 2.510000e-01 0.259150 1.328000 0.337580 1.080000 0.410730 0.448000 0.294170 GTC TCGA-HZ-7922-01A-11D-2154-08 DYSF-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000251970.3 1 0 1 267 1490 0 319 0 8.296928e-01 0 20 0 319 2 0 0 0 0 0 2 1 1.000000 265 1476 0 319 2 -20.000000 1 1 0 0 1 1 2 3 2.017034 1 0.370000 2.950000 0.468354 0.960000 0.860000 1.000000 1.000000 0.963006 0.960000 1 9.100000e-01 1 PLA1A 51365 broad.mit.edu 37 3 119327676 119327676 + Missense_Mutation SNP C C T rs145457987 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:119327676C>T ENST00000273371.4 + 3 407 c.335C>T c.(334-336)aCg>aTg p.T112M PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 30 CTGCGTGCAACGAATGCTAAT 0.438000 0 SO:0001583 missense ENST00000273371.4 1 1 hg19 CCDS2991.1 . . . . . . . . . . C 3.694000 -0.062843 0.072730 0.001362 0.0 ENSG00000144837 ENST00000273371;ENST00000495992;ENST00000494440 D;D;D 0.90955 -2.68;-2.76;-2.68 5.170000 2.190000 0.278520 Lipase, N-terminal (1); 0.669254 0.16089 N 0.230123 T 0.79299 0.4422 N 0.16266 0.395 0.093100 N 1.000000 P;B 0.47545 0.897;0.008 B;B 0.40329 0.326;0.005 T 0.72408 -0.4303 10 0.66056 D 0.02 -0.7573 2.970400 0.059200 0.2767:0.4081:0.2293:0.0858 . 112;112 Q53H76-3;Q53H76 .;PLA1A_HUMAN M 112;112;96 ENSP00000273371:T112M;ENSP00000417326:T112M;ENSP00000418793:T96M ENSP00000273371:T112M T + 2 0 PLA1A 120810366 6.000000e-03 0.163420 1.000000e-03 0.086480 1.400000e-02 0.085840 0.401000 0.209480 0.549000 0.289730 0.462000 0.415740 ACG TCGA-HZ-7922-01A-11D-2154-08 PLA1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355252.2 1 0 1 205 630 0 145 0 9.121586e-01 0 15 0 145 2 0 0 0 0 0 2 1 1.000000 204 627 0 144 2 -3.142967 1 1 121412 3 49 1 2 2 4 2.339257 1 0.370000 2.950000 0.540146 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 SI 6476 broad.mit.edu 37 3 164764706 164764706 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:164764706C>A ENST00000264382.3 - 16 1872 c.1810G>T c.(1810-1812)Gac>Tac p.D604Y NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284)|Scopolamine(DB00747) GCAGTATTGTCTCCTAACCAA 0.393000 HNSCC(35;0.089) 0 SO:0001583 missense ENST00000264382.3 0 1 hg19 CCDS3196.1 . . . . . . . . . . C 24.600000 4.544210 0.860220 . . ENSG00000090402 ENST00000264382 D 0.97906 -4.6 5.360000 5.360000 0.768440 Glycoside hydrolase, superfamily (1); 0.000000 0.85682 D 0.000000 D 0.99354 0.9773 H 0.98918 4.37 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.98404 1.0569 10 0.87932 D 0 . 18.071200 0.894070 0.0:1.0:0.0:0.0 . 604 P14410 SUIS_HUMAN Y 604 ENSP00000264382:D604Y ENSP00000264382:D604Y D - 1 0 SI 166247400 1 0.714170 1 0.803570 9.890000e-01 0.773840 7.356000 0.794450 2.519000 0.849330 0.467000 0.429560 GAC TCGA-HZ-7922-01A-11D-2154-08 SI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350116.1 0 0 0 12 595 0 79 0 0 0 0 79 2 0 0 0 0 0 2 1 0.999089 12 591 0 79 2 -2.986354 1 1 0 0 1 2 2 4 2.344781 1 0.370000 2.950000 0.540146 0.140000 0.070000 0.250000 0.160000 0.157856 0.140000 0 1.000000e-01 2.000000e-01 ATRIP 84126 broad.mit.edu 37 3 48491541 48491541 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:48491541G>A ENST00000320211.3 + 2 459 c.346G>A c.(346-348)Gta>Ata p.V116I ATRIP_ENST00000412052.1_Missense_Mutation_p.V23I|ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I NM_130384.2 NP_569055.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 22 CGAATTAGAGGTACTTCAGGC 0.333000 Other conserved DNA damage response genes 0 SO:0001583 missense ENST00000320211.3 1 1 hg19 CCDS2768.1 . . . . . . . . . . G 12.670000 2.007454 0.354150 . . ENSG00000164053 ENST00000421175;ENST00000320211;ENST00000346691;ENST00000412052 T;T;T;T 0.78126 -1.15;1.43;1.43;1.44 5.510000 -2.400000 0.065830 . 1.023550 0.07743 N 0.947318 T 0.70159 0.3192 M 0.61703 1.905 0.439530 D 0.996621 B;B 0.12013 0.005;0.005 B;B 0.09377 0.004;0.004 T 0.56739 -0.7929 10 0.42905 T 0.14 -0.3582 5.732800 0.180490 0.1973:0.0:0.3847:0.418 . 116;116 Q8WXE1-2;Q8WXE1 .;ATRIP_HUMAN I 23;116;116;23 ENSP00000406664:V23I;ENSP00000323099:V116I;ENSP00000302338:V116I;ENSP00000400930:V23I ENSP00000323099:V116I V + 1 0 ATRIP 48466545 9.250000e-01 0.313640 6.460000e-01 0.294930 9.670000e-01 0.649340 0.191000 0.170760 -0.420000 0.074270 0.655000 0.942530 GTA TCGA-HZ-7922-01A-11D-2154-08 ATRIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257507.2 1 0 1 240 344 0 83 0 9.588175e-01 1 9 0 83 2 0 0 0 0 0 2 1 1.000000 239 342 0 82 2 -20.000000 1 1 0 0 1 0 2 2 1.715143 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ROBO1 6091 broad.mit.edu 37 3 78734918 78734918 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C A C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:78734918C>A ENST00000464233.1 - 10 1433 c.1320G>T c.(1318-1320)aaG>aaT p.K440N ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N|ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N|ROBO1_ENST00000436010.2_Missense_Mutation_p.K401N NM_002941.3 NP_002932.1 Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) CCAAATATGCCTTTGTGATGA 0.383000 0 SO:0001583 missense ENST00000464233.1 1 1 hg19 CCDS54611.1 . . . . . . . . . . C 15.090000 2.730545 0.489390 . . ENSG00000169855 ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414 T;T;T;T 0.69040 -0.37;-0.37;-0.37;-0.37 5.280000 -2.110000 0.071870 Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.088124 0.85682 D 0.000000 T 0.66915 0.2838 L 0.31845 0.965 0.503130 D 0.999865 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.97110 0.998;1.0;0.999;1.0;1.0 T 0.61525 -0.7045 9 . . . . 10.421100 0.443500 0.0:0.3686:0.0:0.6314 . 404;440;404;404;401 Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4 .;ROBO1_HUMAN;.;.;. N 401;404;440;404;404;440 ENSP00000406043:K401N;ENSP00000420321:K440N;ENSP00000420637:K404N;ENSP00000417992:K404N . K - 3 2 ROBO1 78817608 1 0.714170 9.850000e-01 0.450670 4.600000e-01 0.325590 0.961000 0.292670 -0.550000 0.061830 -0.251000 0.115420 AAG TCGA-HZ-7922-01A-11D-2154-08 ROBO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352610.1 1 0 1 24 60 0 22 0 9.968346e-01 0 27 0 22 2 0 0 0 0 0 2 1 1.000000 24 60 0 22 2 -20.000000 1 1 0 0 1 0 2 2 1.715143 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 0.999100 0.990000 1 9.900000e-01 1 MAEA 10296 broad.mit.edu 37 4 1283769 1283769 + Splice_Site SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:1283769A>G ENST00000303400.4 + 1 131 c.68A>G c.(67-69)aAg>aGg p.K23R MAEA_ENST00000505177.2_Splice_Site_p.K23R|MAEA_ENST00000452175.2_Splice_Site_p.K12R|CTBP1-AS2_ENST00000578730.1_RNA|MAEA_ENST00000514708.1_Splice_Site_p.K23R|MAEA_ENST00000264750.6_Splice_Site_p.K23R NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) WF10(DB05389) CCGACCCTCAAGGTGGGCGCC 0.716000 0 SO:0001630 splice_region_variant ENST00000303400.4 0 1 hg19 CCDS33936.1 . . . . . . . . . . A 16.400000 3.113236 0.563980 . . ENSG00000090316 ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708 T;T;T;T;T;T;T 0.47869 1.11;1.04;0.97;1.11;0.9;0.83;1.05 3.360000 3.360000 0.384830 . 0.130255 0.49305 D 0.000158 T 0.34279 0.0892 L 0.35542 1.07 0.339190 D 0.640589 B;B;B;P;B 0.39376 0.136;0.286;0.131;0.67;0.024 B;B;B;B;B 0.39119 0.126;0.203;0.084;0.291;0.016 T 0.42899 -0.9424 10 0.14252 T 0.57 . 11.949700 0.529480 1.0:0.0:0.0:0.0 . 23;23;23;23;23 E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9 .;.;.;.;MAEA_HUMAN R 23;23;23;23;23;23;23;12;23 ENSP00000302830:K23R;ENSP00000422215:K23R;ENSP00000421644:K23R;ENSP00000264750:K23R;ENSP00000426903:K23R;ENSP00000411415:K12R;ENSP00000427512:K23R ENSP00000264750:K23R K + 2 0 MAEA 1273769 1 0.714170 9.990000e-01 0.593770 8.960000e-01 0.523590 6.007000 0.707310 1.406000 0.468570 0.528000 0.532280 AAG TCGA-HZ-7922-01A-11D-2154-08 MAEA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359511.1 0 0 0 6 42 0 10 1 9.799068e-01 3 52 0 10 2 0 0 0 0 0 2 1 0.966152 5 42 0 10 2 -12.790620 1 1 120220 1 23 1 2 2 4 2.309022 1 0.370000 2.950000 0.537649 0.970000 0.420000 1.000000 1.000000 0.868335 0.970000 1 6.600000e-01 1 LRBA 987 broad.mit.edu 37 4 151791686 151791686 + Missense_Mutation SNP G G C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:151791686G>C ENST00000357115.3 - 20 2683 c.2440C>G c.(2440-2442)Caa>Gaa p.Q814E LRBA_ENST00000510413.1_Missense_Mutation_p.Q814E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E|LRBA_ENST00000535741.1_Missense_Mutation_p.Q814E NM_006726.4 NP_006717.2 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 91 all_hematologic(180;0.151) CGAGGGTTTTGTATCTTCACT 0.313000 0 SO:0001583 missense ENST00000357115.3 1 1 hg19 CCDS3773.1 . . . . . . . . . . G 10.530000 1.375857 0.248570 . . ENSG00000198589 ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224 T;T;T;T 0.63580 -0.05;-0.05;-0.05;-0.05 5.660000 5.660000 0.874060 Armadillo-type fold (1); 0.413735 0.23682 N 0.045609 T 0.63200 0.2491 L 0.31157 0.91 0.520990 D 0.999940 D;P 0.56968 0.978;0.571 P;B 0.58130 0.833;0.288 T 0.55218 -0.8175 10 0.02654 T 1 . 19.757000 0.962980 0.0:0.0:1.0:0.0 . 814;814 P50851;P50851-2 LRBA_HUMAN;. E 814 ENSP00000446299:Q814E;ENSP00000421552:Q814E;ENSP00000349629:Q814E;ENSP00000422180:Q814E ENSP00000349629:Q814E Q - 1 0 LRBA 152011136 1 0.714170 1 0.803570 9.870000e-01 0.754690 5.464000 0.667190 2.678000 0.912160 0.460000 0.390300 CAA TCGA-HZ-7922-01A-11D-2154-08 LRBA-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000364939.1 1 0 1 126 200 0 82 1 9.998105e-01 15 9 0 82 2 0 0 0 0 0 2 1 1.000000 125 199 0 82 2 -20.000000 1 1 0 0 1 0 2 2 1.773460 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 GOLPH3 64083 broad.mit.edu 37 5 32126388 32126388 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr5:32126388G>A ENST00000265070.6 - 4 1142 c.827C>T c.(826-828)cCt>cTt p.P276L GOLPH3_ENST00000512668.1_5'Flank NM_022130.3 NP_071413.1 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 (coat-protein) 11 TTCCACTTCAGGGTCTAAGTC 0.542000 0 SO:0001583 missense ENST00000265070.6 1 1 hg19 CCDS3896.1 . . . . . . . . . . G 6.769000 0.510717 0.128830 . . ENSG00000113384 ENST00000265070;ENST00000542582 . . . 6.170000 6.170000 0.997090 . 0.000000 0.85682 D 0.000000 T 0.65101 0.2659 L 0.51422 1.61 0.807220 D 1.000000 B 0.24963 0.115 B 0.31614 0.133 T 0.58803 -0.7572 9 0.11485 T 0.65 . 20.879400 0.998670 0.0:0.0:1.0:0.0 . 276 Q9H4A6 GOLP3_HUMAN L 276;259 . ENSP00000265070:P276L P - 2 0 GOLPH3 32162145 1 0.714170 9.660000e-01 0.408740 1.000000e-02 0.072450 9.414000 0.973620 2.941000 0.997820 0.655000 0.942530 CCT TCGA-HZ-7922-01A-11D-2154-08 GOLPH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207363.2 1 0 1 172 444 0 75 1 1 112 290 0 75 2 0 0 0 0 0 2 1 1.000000 168 439 0 74 2 -8.599169 1 1 0 0 1 2 2 4 2.353196 1 0.370000 2.950000 0.540146 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 LPA 4018 broad.mit.edu 37 6 161032642 161032642 + Missense_Mutation SNP G G C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:161032642G>C ENST00000316300.5 - 16 2599 c.2555C>G c.(2554-2556)tCt>tGt p.S852C LPA_ENST00000447678.1_Missense_Mutation_p.S852C P08519 APOA_HUMAN lipoprotein, Lp(a) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) Aminocaproic Acid(DB00513) TGGTGTCATAGATGACCAAGC 0.493000 0 SO:0001583 missense ENST00000316300.5 0 1 hg19 CCDS43523.1 . . . . . . . . . . g 10.020000 1.236595 0.227110 . . ENSG00000198670 ENST00000316300;ENST00000447678 T;T 0.67698 -0.28;-0.28 2.170000 2.170000 0.276980 Kringle (4);Kringle-like fold (1); . . . . D 0.83589 0.5287 H 0.99238 4.48 0.200740 N 0.999939 D 0.61697 0.99 D 0.81914 0.995 T 0.72228 -0.4354 9 0.66056 D 0.02 . 7.828200 0.293280 0.0:0.0:1.0:0.0 . 3360 P08519 APOA_HUMAN C 852 ENSP00000321334:S852C;ENSP00000395608:S852C ENSP00000321334:S852C S - 2 0 LPA 160952632 9.440000e-01 0.320720 2.680000e-01 0.245710 2.680000e-01 0.265110 4.700000 0.618030 1.217000 0.434420 0.194000 0.174250 TCT TCGA-HZ-7922-01A-11D-2154-08 LPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042957.1 0 0 0 21 1302 0 275 0 0 0 0 275 2 0 0 0 0 0 2 1 0.999988 18 1122 0 459 2 -3.319111 1 1 0 0 1 0 2 2 1.723553 1 0.370000 2.950000 0.370000 0.080000 0.040000 0.130000 0.080000 0.089614 0.080000 0 6.000000e-02 1.100000e-01 FLNC 2318 broad.mit.edu 37 7 128477594 128477594 + Missense_Mutation SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:128477594A>G ENST00000325888.8 + 4 1103 c.842A>G c.(841-843)tAt>tGt p.Y281C FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 128 GCCATCGCCTATGGGCCTGGT 0.602000 0 SO:0001583 missense ENST00000325888.8 1 1 hg19 CCDS43644.1 . . . . . . . . . . A 19.490000 3.837735 0.713730 . . ENSG00000128591 ENST00000325888;ENST00000346177 D;D 0.85013 -1.93;-1.93 5.390000 5.390000 0.778230 Immunoglobulin E-set (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 D 0.94185 0.8134 H 0.94542 3.55 0.496870 D 0.999814 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.994 D 0.95461 0.8543 10 0.87932 D 0 . 13.379500 0.607590 1.0:0.0:0.0:0.0 . 281;281 Q14315-2;Q14315 .;FLNC_HUMAN C 281 ENSP00000327145:Y281C;ENSP00000344002:Y281C ENSP00000327145:Y281C Y + 2 0 FLNC 128264830 1 0.714170 1 0.803570 9.530000e-01 0.610140 5.922000 0.700360 2.043000 0.605330 0.533000 0.621200 TAT TCGA-HZ-7922-01A-11D-2154-08 FLNC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000059948.3 1 0 1 137 222 0 87 1 9.996751e-01 9 14 0 87 2 0 0 0 0 0 2 1 1.000000 135 218 0 87 2 -20.000000 1 1 0 0 1 0 2 2 1.717328 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 TNRC18 84629 broad.mit.edu 37 7 5410273 5410273 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:5410273C>T ENST00000430969.1 - 11 4300 c.3952G>A c.(3952-3954)Ggc>Agc p.G1318S TNRC18_ENST00000399537.4_Missense_Mutation_p.G1318S NM_001080495.2 NP_001073964.2 O15417 TNC18_HUMAN trinucleotide repeat containing 18 11 Ovarian(82;0.142) CAGGTGCTGCCGAGTACAGGC 0.662000 0 SO:0001583 missense ENST00000430969.1 1 1 hg19 CCDS47534.1 . . . . . . . . . . C 4.209000 0.037484 0.081480 . . ENSG00000182095 ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499 T;T 0.10668 2.85;2.85 4.900000 -0.334000 0.126660 . 0.390991 0.18787 N 0.131164 T 0.05686 0.0149 N 0.25144 0.715 0.093100 N 1.000000 B 0.10296 0.003 B 0.08055 0.003 T 0.33343 -0.9872 10 0.32370 T 0.25 . 4.691000 0.127810 0.0:0.5034:0.1509:0.3457 . 1318 O15417 TNC18_HUMAN S 1318;1318;373;373 ENSP00000382452:G1318S;ENSP00000395538:G1318S ENSP00000330383:G373S G - 1 0 TNRC18 5376799 0 0.058580 2.000000e-03 0.105220 8.500000e-02 0.179050 -0.185000 0.096840 0.146000 0.190020 0.313000 0.208870 GGC TCGA-HZ-7922-01A-11D-2154-08 TNRC18-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding 1 0 1 29 46 0 26 1 9.999999e-01 34 22 0 26 2 0 0 0 0 0 2 1 1.000000 29 46 0 25 2 -7.264140 1 1 120846 1 24 1 0 2 2 1.688928 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 0.999997 0.990000 1 9.900000e-01 1 GDF6 392255 broad.mit.edu 37 8 97156945 97156945 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:97156945G>A ENST00000287020.5 - 2 1313 c.1214C>T c.(1213-1215)aCg>aTg p.T405M NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 27 Breast(36;2.67e-05) GTTCATCAGCGTCTGGATGAT 0.602000 0 SO:0001583 missense ENST00000287020.5 1 1 hg19 CCDS34926.1 . . . . . . . . . . G 24.400000 4.526943 0.857060 . . ENSG00000156466 ENST00000287020 D 0.89617 -2.54 4.950000 4.950000 0.653090 Transforming growth factor-beta, C-terminal (3); 0.000000 0.85682 D 0.000000 D 0.95118 0.8418 M 0.87381 2.88 0.807220 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.95756 0.8796 10 0.87932 D 0 . 17.142600 0.867580 0.0:0.0:1.0:0.0 . 405 Q6KF10 GDF6_HUMAN M 405 ENSP00000287020:T405M ENSP00000287020:T405M T - 2 0 GDF6 97226121 1 0.714170 1 0.803570 9.960000e-01 0.888480 9.595000 0.982600 2.567000 0.866030 0.650000 0.862430 ACG TCGA-HZ-7922-01A-11D-2154-08 GDF6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379862.2 1 0 1 34 185 0 29 0 4.827448e-01 0 10 0 29 2 0 0 0 0 0 2 1 1.000000 32 180 0 28 2 -18.159600 1 1 0 0 1 2 4 6 2.947154 1 0.370000 2.950000 0.636385 0.990000 0.990000 1.000000 1.000000 0.999261 0.990000 1 9.900000e-01 1 SH2D3C 10044 broad.mit.edu 37 9 130507114 130507114 + Missense_Mutation SNP G G A rs142472912 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:130507114G>A ENST00000314830.8 - 7 1642 c.1529C>T c.(1528-1530)gCg>gTg p.A510V SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 28 GGTCTCAGTCGCTGCCCACTC 0.627000 0 SO:0001583 missense ENST00000314830.8 1 1 hg19 CCDS6877.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 10.210000 1.288019 0.234780 . . ENSG00000095370 ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830 T;T;T;T;T;T 0.41065 1.01;1.01;1.01;1.01;1.01;1.01 5.500000 2.400000 0.295150 . 0.589560 0.17839 N 0.160278 T 0.27765 0.0683 L 0.44542 1.39 0.093100 N 1.000000 B;B;B;B;B 0.33494 0.217;0.414;0.059;0.324;0.032 B;B;B;B;B 0.22152 0.038;0.017;0.002;0.038;0.003 T 0.13388 -1.0511 10 0.45353 T 0.12 -3.8094 6.123900 0.201670 0.074:0.134:0.6533:0.1387 . 350;510;442;353;352 E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5 .;SH2D3_HUMAN;.;.;. V 353;352;442;350;156;510 ENSP00000362374:A353V;ENSP00000388536:A352V;ENSP00000362373:A442V;ENSP00000362371:A350V;ENSP00000394632:A156V;ENSP00000317817:A510V ENSP00000317817:A510V A - 2 0 SH2D3C 129546935 4.800000e-02 0.203560 6.000000e-03 0.133840 5.040000e-01 0.338890 2.309000 0.436990 0.640000 0.305820 0.462000 0.415740 GCG TCGA-HZ-7922-01A-11D-2154-08 SH2D3C-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000054264.1 1 0 1 328 609 0 209 0 9.999261e-01 0 29 0 209 2 0 0 0 0 0 2 1 1.000000 322 599 0 206 2 -20.000000 1 1 121412 4 42 1 0 2 2 1.706660 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 AMOT 154796 broad.mit.edu 37 X 112048283 112048283 + Silent SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:112048283C>T ENST00000524145.1 - 6 1742 c.1668G>A c.(1666-1668)gcG>gcA p.A556A AMOT_ENST00000304758.1_Silent_p.A147A|AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000371959.3_Silent_p.A556A|AMOT_ENST00000371958.1_Silent_p.A324A Q4VCS5 AMOT_HUMAN angiomotin 43 TGGCCAGCTCCGCTTCCAGCT 0.527000 0 SO:0001819 synonymous_variant ENST00000524145.1 1 1 hg19 CCDS48154.1 TCGA-HZ-7922-01A-11D-2154-08 AMOT-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000378570.1 1 0 1 454 725 0 201 1 9.991171e-01 12 8 0 201 2 0 0 0 0 0 2 1 1.000000 452 715 0 200 2 -20.000000 1 1 121410 8 45 1 0 1 1 0.370000 2.950000 0.370000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ACE2 59272 broad.mit.edu 37 X 15582310 15582310 + Missense_Mutation SNP G G A rs144869363 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:15582310G>A ENST00000252519.3 - 17 2248 c.2146C>T c.(2146-2148)Cgt>Tgt p.R716C ACE2_ENST00000427411.1_Missense_Mutation_p.R716C|ACE2_ENST00000471548.1_5'UTR Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 32 Hepatocellular(33;0.183) Lisinopril(DB00722)|Moexipril(DB00691) TCATTCAGACGGAAAGCATCA 0.428000 0 SO:0001583 missense ENST00000252519.3 1 1 hg19 CCDS14169.1 . . . . . . . . . . G 10.330000 1.320166 0.239940 2.61E-4 0.0 ENSG00000130234 ENST00000252519;ENST00000427411 D;D 0.85484 -1.99;-1.99 6.160000 0.081700 0.144250 . 0.653399 0.16598 N 0.207475 D 0.84325 0.5447 M 0.77616 2.38 0.093100 N 1.000000 D 0.56287 0.975 P 0.46339 0.513 T 0.76586 -0.2905 10 0.87932 D 0 1.1293 7.436300 0.271580 0.0666:0.5122:0.2256:0.1956 . 716 Q9BYF1 ACE2_HUMAN C 716 ENSP00000252519:R716C;ENSP00000389326:R716C ENSP00000252519:R716C R - 1 0 ACE2 15492231 2.930000e-01 0.243710 2.000000e-03 0.105220 4.000000e-03 0.042600 0.501000 0.225780 -0.455000 0.070540 -1.092000 0.021720 CGT TCGA-HZ-7922-01A-11D-2154-08 ACE2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055867.1 1 0 1 128 573 0 133 0 3.388481e-02 1 1 0 133 2 0 0 0 0 0 2 1 1.000000 129 570 0 131 2 -2.902241 1 1 0 0 1 0 1 1 0.370000 2.950000 0.370000 0.980000 0.830000 1.000000 1.000000 0.962861 0.980000 1 9.000000e-01 1 NLGN3 54413 broad.mit.edu 37 X 70389792 70389792 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:70389792C>T ENST00000358741.3 + 8 2695 c.2392C>T c.(2392-2394)Cgc>Tgc p.R798C NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000374051.3_Missense_Mutation_p.R778C NM_181303.1 NP_851820.1 Q9NZ94 NLGN3_HUMAN neuroligin 3 p.R778C(1) 37 Renal(35;0.156) GACCCTGCGGCGCTCCCCGGA 0.612000 Esophageal Squamous(103;760 1488 16849 22250 40351) 1 Substitution - Missense(1) SO:0001583 missense ENST00000358741.3 1 1 hg19 CCDS55441.1 . . . . . . . . . . C 17.270000 3.346340 0.610730 . . ENSG00000196338 ENST00000536169;ENST00000374051;ENST00000358741 T;T;T 0.73258 -0.7;-0.73;-0.73 4.920000 4.920000 0.645770 . 0.000000 0.85682 D 0.000000 D 0.82907 0.5139 M 0.79123 2.44 0.807220 D 1.000000 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.76071 0.97;0.97;0.987 D 0.85078 0.0944 10 0.87932 D 0 . 12.562700 0.562910 0.1658:0.8342:0.0:0.0 . 758;798;778 D3DVV1;Q9NZ94;Q9NZ94-2 .;NLGN3_HUMAN;. C 758;778;798 ENSP00000445298:R758C;ENSP00000363163:R778C;ENSP00000351591:R798C ENSP00000351591:R798C R + 1 0 NLGN3 70306517 1 0.714170 1 0.803570 9.460000e-01 0.594870 3.794000 0.554920 2.310000 0.778750 0.525000 0.510460 CGC TCGA-HZ-7922-01A-11D-2154-08 NLGN3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057121.1 1 0 1 16 42 0 14 0 5.357265e-01 0 6 0 14 2 0 0 0 0 0 2 1 0.999971 16 41 0 14 2 -20.000000 1 1 0 0 1 0 1 1 0.370000 2.950000 0.370000 0.990000 0.920000 1.000000 1.000000 0.995380 0.990000 1 9.900000e-01 1