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 ADAMTS14 140766 broad.mit.edu 37 10 72489912 72489912 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr10:72489912C>T ENST00000373207.1 + 6 1009 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R337C NM_080722.3 NP_542453.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 50 GCAGGTGTGTCGCTGGGCACA 0.667000 0 SO:0001583 missense ENST00000373207.1 1 1 hg19 CCDS7306.1 . . . . . . . . . . C 32 5.163344 0.94727 . . ENSG00000138316 ENST00000373208;ENST00000373207 T;T 0.64260 -0.09;-0.09 4.7 4.7 0.59300 Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2); 0.000000 0.85682 D 0.000000 T 0.80798 0.4692 M 0.83118 2.625 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.74023 0.959;0.982 D 0.84031 0.0359 10 0.87932 D 0 . 17.8161 0.88634 0.0:1.0:0.0:0.0 . 337;337 Q8WXS8;Q5T4G1 ATS14_HUMAN;. C 337 ENSP00000362304:R337C;ENSP00000362303:R337C ENSP00000362303:R337C R + 1 0 ADAMTS14 72159918 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.739000 0.68622 2.608000 0.88229 0.655000 0.94253 CGC TCGA-HZ-8637-01A-11D-2396-08 ADAMTS14-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000048522.1 1 0 0 35 415 0 112 0 2.175318e-01 1 10 0 112 2 0 0 0 0 0 2 1 1 35 414 0 111 2 -3.318794 1 1 121408 2 33 1 1 2 3 2.066575 0 0.200000 1.850000 0.233716 0.860000 0.590000 1.000000 1.000000 0.861751 0.860000 1 0.710000 1.000000 CTR9 9646 broad.mit.edu 37 11 10776660 10776660 + Silent SNP A A G TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr11:10776660A>G ENST00000361367.2 + 3 726 c.300A>G c.(298-300)gaA>gaG p.E100E NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 40 CTCGGAAAGAAAAGAATAAGG 0.358000 0 SO:0001819 synonymous_variant ENST00000361367.2 0 1 hg19 CCDS7805.1 TCGA-HZ-8637-01A-11D-2396-08 CTR9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386215.1 0 0 0 6 615 1 150 0 2.752186e-02 2 88 1 150 4 0 0 0 0 0 2 0 3.611229e-02 6 610 1 149 15 -3.317029 1 1 0 0 1 0 1 1 1.853927 1 0.200000 1.850000 0.111111 0.080000 0.030000 0.180000 0.090000 0.099815 0.080000 0 0.050000 0.130000 HTR3A 3359 broad.mit.edu 37 11 113857759 113857759 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr11:113857759G>A ENST00000504030.2 + 8 1574 c.1129G>A c.(1129-1131)Gac>Aac p.D377N HTR3A_ENST00000535865.1_Missense_Mutation_p.D121N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D415N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D383N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D409N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D362N P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246) CAAGACTGATGACTGCTCAGG 0.582000 0 SO:0001583 missense ENST00000504030.2 0 1 hg19 . . . . . . . . . . G 10.56 1.383357 0.25031 . . ENSG00000166736 ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961 D;T;D;T;D;D 0.83914 -1.78;1.9;-1.78;1.9;-1.78;-1.78 5.5 3.26 0.37387 . 1.090970 0.06727 N 0.775992 T 0.76772 0.4034 L 0.38175 1.15 0.38660 D 0.952058 B;B;B 0.14012 0.002;0.008;0.009 B;B;B 0.19666 0.01;0.012;0.026 T 0.64162 -0.6472 10 0.29301 T 0.29 -20.6259 9.712 0.40251 0.2049:0.0:0.7951:0.0 . 362;415;383 B4DSY6;G5E986;Q7KZM7 .;.;. N 377;415;383;409;121;362 ENSP00000424189:D377N;ENSP00000347754:D415N;ENSP00000364648:D383N;ENSP00000424776:D409N;ENSP00000437776:D121N;ENSP00000299961:D362N ENSP00000299961:D362N D + 1 0 HTR3A 113362969 0.956000 0.32656 0.839000 0.33178 0.112000 0.19704 1.552000 0.36244 1.459000 0.47892 0.655000 0.94253 GAC TCGA-HZ-8637-01A-11D-2396-08 HTR3A-001 KNOWN upstream_ATG|basic|appris_principal protein_coding protein_coding OTTHUMT00000360822.2 0 0 0 10 419 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 9.967305e-01 10 413 0 100 2 -9.328989 1 1 0 0 1 1 3 4 2.303692 1 0.200000 1.850000 0.306759 0.300000 0.140000 1.000000 0.260000 0.412372 0.300000 0 0.210000 1.000000 TECTA 7007 broad.mit.edu 37 11 120998885 120998885 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr11:120998885C>T ENST00000392793.1 + 9 2470 c.2199C>T c.(2197-2199)tcC>tcT p.S733S TECTA_ENST00000264037.2_Silent_p.S733S O75443 TECTA_HUMAN tectorin alpha TECTA/TBCEL(2) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) CCTTCCCCTCCGAGTTCTCCT 0.612000 0 SO:0001819 synonymous_variant ENST00000392793.1 1 1 hg19 CCDS8434.1 TCGA-HZ-8637-01A-11D-2396-08 TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313850.1 1 0 1 191 687 0 192 0 4.768854e-02 0 2 0 192 2 0 0 0 0 0 2 1 1 186 683 0 191 2 -3.670058 1 1 121412 9 43 1 1 3 4 2.303692 1 0.200000 1.850000 0.306759 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 OR4C11 219429 broad.mit.edu 37 11 55371698 55371698 + Missense_Mutation SNP C C T rs140943798 byFrequency TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr11:55371698C>T ENST00000302231.4 - 1 176 c.152G>A c.(151-153)cGg>cAg p.R51Q NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 33 TCCTAGTGTCCGGCTGGACTT 0.408000 0 SO:0001583 missense ENST00000302231.4 1 1 hg19 CCDS31503.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 0.005 -2.153505 0.00325 0.0 0.001498 ENSG00000172188 ENST00000302231 T 0.01076 5.37 4.34 -3.53 0.04667 GPCR, rhodopsin-like superfamily (1); 0.915015 0.09091 N 0.849832 T 0.00666 0.0022 N 0.05414 -0.055 0.09310 N 1 B 0.14012 0.009 B 0.04013 0.001 T 0.46541 -0.9184 10 0.16896 T 0.51 . 6.9427 0.24502 0.0:0.2633:0.1376:0.5991 . 51 Q6IEV9 OR4CB_HUMAN Q 51 ENSP00000306651:R51Q ENSP00000306651:R51Q R - 2 0 OR4C11 55128274 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.195000 0.00563 -0.427000 0.07350 -0.701000 0.03672 CGG TCGA-HZ-8637-01A-11D-2396-08 OR4C11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383268.1 1 0 1 67 547 0 151 0 0 0 0 151 2 0 0 0 0 0 2 1 1 67 537 0 149 2 -2.841672 1 1 113230 134 52 1 0 1 1 1.853927 1 0.200000 1.850000 0.111111 0.910000 0.740000 1.000000 0.970000 0.907134 0.910000 1 0.830000 0.980000 LRRC43 254050 broad.mit.edu 37 12 122669269 122669269 + Silent SNP G G T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr12:122669269G>T ENST00000339777.4 + 2 382 c.354G>T c.(352-354)acG>acT p.T118T LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) ACCCGCTGACGATCACAGACA 0.582000 0 SO:0001819 synonymous_variant ENST00000339777.4 1 1 hg19 CCDS45001.1 TCGA-HZ-8637-01A-11D-2396-08 LRRC43-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401589.1 1 0 1 16 125 0 45 0 4.068604e-02 1 2 0 45 2 0 0 0 0 0 2 1 9.999450e-01 16 123 0 45 2 -8.977229 1 1 0 0 1 0 0 0 1.982588 0 0.200000 1.850000 0.178645 0.990000 0.660000 1.000000 1.000000 0.950799 0.990000 1 0.860000 1.000000 CAPZA3 93661 broad.mit.edu 37 12 18891410 18891410 + Missense_Mutation SNP G G C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr12:18891410G>C ENST00000317658.3 + 1 366 c.208G>C c.(208-210)Gta>Cta p.V70L PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TGGAAATCCAGTACTCTTGTC 0.423000 0 SO:0001583 missense ENST00000317658.3 1 1 hg19 CCDS8681.1 . . . . . . . . . . G 18.61 3.661852 0.67700 . . ENSG00000177938 ENST00000317658 . . . 4.39 4.39 0.52855 . 0.000000 0.64402 D 0.000002 T 0.76849 0.4045 M 0.72353 2.195 0.41152 D 0.986031 D 0.63046 0.992 D 0.76071 0.987 T 0.80065 -0.1538 9 0.72032 D 0.01 -16.3283 13.8066 0.63236 0.0:0.0:1.0:0.0 . 70 Q96KX2 CAZA3_HUMAN L 70 . ENSP00000326238:V70L V + 1 0 CAPZA3 18782677 0.990000 0.36364 0.889000 0.34880 0.991000 0.79684 4.256000 0.58810 2.278000 0.76064 0.462000 0.41574 GTA TCGA-HZ-8637-01A-11D-2396-08 CAPZA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401902.1 1 0 1 59 513 0 130 0 0 0 0 130 2 0 0 0 0 0 2 1 1 59 510 0 130 2 -20.000000 1 1 0 0 1 1 2 3 2.090495 0 0.200000 1.850000 0.214145 0.990000 0.810000 1.000000 1.000000 0.976676 0.990000 1 0.930000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 C A C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 0 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 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 V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V G - 2 0 KRAS 25289551 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-HZ-8637-01A-11D-2396-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 11 88 0 18 1 8.135095e-01 9 18 0 18 2 1 1 42 383 0 333 2 1 9.984887e-01 10 87 0 18 2 -7.636344 1 1 0 0 1 0 1 1 1.912163 0 0.200000 1.850000 0.111111 0.810000 0.480000 0.990000 0.940000 0.800523 0.810000 0 0.640000 0.940000 ADCY6 112 broad.mit.edu 37 12 49164673 49164673 + Silent SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr12:49164673G>A ENST00000307885.4 - 19 3826 c.3132C>T c.(3130-3132)aaC>aaT p.N1044N ADCY6_ENST00000357869.3_Silent_p.N991N|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.N991N NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 p.N1044N(1) 29 AGGTGCTGGCGTTCAGCCCTG 0.567000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000307885.4 0 1 hg19 CCDS8767.1 TCGA-HZ-8637-01A-11D-2396-08 ADCY6-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408863.1 0 0 0 5 429 0 93 0 2.654719e-01 0 73 0 93 2 0 0 0 0 0 2 1 9.375018e-01 6 427 0 93 2 -4.739982 1 1 0 0 1 0 1 1 1.983498 0 0.200000 1.850000 0.172699 0.110000 0.040000 0.240000 0.110000 0.131610 0.110000 0 0.070000 0.180000 KRT4 3851 broad.mit.edu 37 12 53202186 53202186 + Silent SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr12:53202186G>A ENST00000551956.1 - 6 1509 c.1017C>T c.(1015-1017)atC>atT p.I339I KRT4_ENST00000293774.4_Silent_p.I413I|KRT4_ENST00000458244.2_Silent_p.I319I P19013 K2C4_HUMAN keratin 4 29 GGTCAACCGAGATCTGGAGCT 0.498000 Pancreas(190;284 2995 41444 45903) 0 SO:0001819 synonymous_variant ENST00000551956.1 1 1 hg19 CCDS41787.2 TCGA-HZ-8637-01A-11D-2396-08 KRT4-001 KNOWN upstream_ATG|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000405931.1 0 0 0 15 508 0 131 0 2.887631e-03 0 3 0 131 2 0 0 0 0 0 2 1 9.998686e-01 15 505 0 130 2 -13.241080 1 1 0 0 1 0 0 0 1.982588 0 0.200000 1.850000 0.178645 0.280000 0.160000 0.440000 0.280000 0.294233 0.280000 0 0.210000 0.360000 ACSS3 79611 broad.mit.edu 37 12 81568670 81568670 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr12:81568670G>A ENST00000548058.1 + 8 2112 c.1202G>A c.(1201-1203)cGt>cAt p.R401H ACSS3_ENST00000548324.1_Missense_Mutation_p.R83H|ACSS3_ENST00000261206.3_Missense_Mutation_p.R400H Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 51 AGAGCAATCCGTCAACAGGAC 0.502000 0 SO:0001583 missense ENST00000548058.1 1 1 hg19 CCDS9022.1 . . . . . . . . . . G 34 5.332027 0.95733 . . ENSG00000111058 ENST00000548058;ENST00000261206;ENST00000548324 T;T;T 0.40756 1.02;1.02;1.02 5.83 5.83 0.93111 AMP-dependent synthetase/ligase (1); 0.000000 0.85682 D 0.000000 T 0.64034 0.2562 L 0.57130 1.785 0.80722 D 1 P;D 0.89917 0.956;1.0 B;D 0.77004 0.412;0.989 T 0.63769 -0.6562 10 0.72032 D 0.01 -13.3289 20.126 0.97982 0.0:0.0:1.0:0.0 . 83;401 Q9H6R3-2;Q9H6R3 .;ACSS3_HUMAN H 401;400;83 ENSP00000449535:R401H;ENSP00000261206:R400H;ENSP00000448965:R83H ENSP00000261206:R400H R + 2 0 ACSS3 80092801 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 9.056000 0.93881 2.749000 0.94314 0.655000 0.94253 CGT TCGA-HZ-8637-01A-11D-2396-08 ACSS3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000407794.1 0 0 0 15 280 0 82 0 2.930162e-01 0 20 0 82 2 0 0 0 0 0 2 1 9.998732e-01 15 277 0 81 2 -16.697130 1 1 121410 5 37 1 0 0 0 1.982588 0 0.200000 1.850000 0.178645 0.500000 0.290000 0.760000 0.480000 0.516527 0.500000 0 0.380000 0.640000 LCP1 3936 broad.mit.edu 37 13 46718595 46718595 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr13:46718595C>T ENST00000398576.2 - 14 1623 c.1235G>A c.(1234-1236)cGa>cAa p.R412Q LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Missense_Mutation_p.R412Q P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) ATGATTGACTCGAGGGTTAAC 0.423000 T BCL6 NHL Dom yes 13 13q14.1-q14.3 3936 lymphocyte cytosolic protein 1 (L-plastin) L 0 SO:0001583 missense ENST00000398576.2 1 1 hg19 CCDS9403.1 . . . . . . . . . . C 17.86 3.492704 0.64074 . . ENSG00000136167 ENST00000323076;ENST00000398576 D;D 0.94828 -3.53;-3.53 5.91 5.07 0.68467 Calponin homology domain (5); 0.117460 0.64402 N 0.000014 D 0.89969 0.6869 L 0.33624 1.015 0.80722 D 1 P 0.39060 0.657 B 0.35353 0.201 D 0.88903 0.3354 10 0.37606 T 0.19 -1.5 14.0981 0.65037 0.0:0.9281:0.0:0.0719 . 412 P13796 PLSL_HUMAN Q 412 ENSP00000315757:R412Q;ENSP00000381581:R412Q ENSP00000315757:R412Q R - 2 0 LCP1 45616596 0.989000 0.36119 0.995000 0.50966 0.996000 0.88848 2.576000 0.46033 1.507000 0.48752 0.555000 0.69702 CGA TCGA-HZ-8637-01A-11D-2396-08 LCP1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044800.3 1 0 0 15 346 0 118 1 1 17 1184 0 118 2 0 0 0 0 0 2 1 9.998657e-01 15 341 0 118 2 -2.854798 1 1 0 0 1 0 0 0 2.014613 0 0.200000 1.850000 0.191919 0.410000 0.240000 0.640000 0.400000 0.431288 0.410000 0 0.320000 0.530000 PCDH9 5101 broad.mit.edu 37 13 67802512 67802512 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr13:67802512C>T ENST00000377865.2 - 1 195 c.61G>A c.(61-63)Gca>Aca p.A21T PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000544246.1_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T Q9HC56 PCDH9_HUMAN protocadherin 9 p.A21T(1) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) TGAGCTATTGCGGAATCCAGC 0.383000 1 Substitution - Missense(1) SO:0001583 missense ENST00000377865.2 0 1 hg19 CCDS9444.1 . . . . . . . . . . C 10.84 1.463505 0.26248 . . ENSG00000184226 ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861 T;T;T;T;T 0.54866 0.61;0.61;0.55;0.55;0.57 5.82 5.82 0.92795 . 0.104012 0.64402 D 0.000003 T 0.45657 0.1353 L 0.29908 0.895 0.45490 D 0.998456 B;B;B;B 0.21071 0.051;0.0;0.005;0.022 B;B;B;B 0.15870 0.006;0.0;0.014;0.006 T 0.23583 -1.0184 10 0.41790 T 0.15 . 20.1012 0.97876 0.0:1.0:0.0:0.0 . 21;21;21;21 B7ZM79;Q5VT82;Q9HC56-2;Q9HC56 .;.;.;PCDH9_HUMAN T 21 ENSP00000442186:A21T;ENSP00000367096:A21T;ENSP00000401699:A21T;ENSP00000332060:A21T;ENSP00000367092:A21T ENSP00000332060:A21T A - 1 0 PCDH9 66700513 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.625000 0.61262 2.754000 0.94517 0.650000 0.86243 GCA TCGA-HZ-8637-01A-11D-2396-08 PCDH9-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276387.1 0 0 0 5 389 0 82 0 7.867789e-04 0 3 0 82 2 0 0 0 0 0 2 1 9.370836e-01 5 388 0 82 2 -3.019464 1 1 0 0 1 0 0 0 2.014613 0 0.200000 1.850000 0.191919 0.130000 0.040000 0.270000 0.130000 0.148399 0.130000 0 0.080000 0.200000 TEP1 7011 broad.mit.edu 37 14 20851408 20851408 + Silent SNP A A C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr14:20851408A>C ENST00000262715.5 - 27 4012 c.3972T>G c.(3970-3972)tcT>tcG p.S1324S TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.S1216S NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GGGCCCGAGCAGAGGCCTCCA 0.647000 0 SO:0001819 synonymous_variant ENST00000262715.5 1 1 hg19 CCDS9548.1 TCGA-HZ-8637-01A-11D-2396-08 TEP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000073563.2 1 0 1 24 200 0 31 1 9.826646e-01 7 50 0 31 2 0 0 0 0 0 2 1 9.999997e-01 20 197 0 30 2 -20.000000 1 1 0 0 1 1 2 3 2.244705 1 0.200000 1.850000 0.272727 0.990000 0.780000 1.000000 1.000000 0.980197 0.990000 1 0.970000 1.000000 SPTBN5 51332 broad.mit.edu 37 15 42147503 42147503 + Silent SNP G G T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr15:42147503G>T ENST00000320955.6 - 55 9569 c.9342C>A c.(9340-9342)acC>acA p.T3114T NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) CGAGGAGCAGGGTCTCTCGCT 0.682000 0 SO:0001819 synonymous_variant ENST00000320955.6 1 1 hg19 TCGA-HZ-8637-01A-11D-2396-08 SPTBN5-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000420237.1 1 0 0 13 149 0 36 0 2.178559e-02 0 3 0 36 2 0 0 0 0 0 2 1 9.995706e-01 13 147 0 36 2 -18.375930 1 1 0 0 1 0 0 0 1.932025 0 0.200000 1.850000 0.156118 0.750000 0.430000 1.000000 1.000000 0.765324 0.750000 0 0.580000 0.970000 SPPL2A 84888 broad.mit.edu 37 15 51012246 51012246 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr15:51012246T>C ENST00000261854.5 - 14 1653 c.1379A>G c.(1378-1380)aAg>aGg p.K460R SPPL2A_ENST00000559293.1_5'Flank NM_032802.3 NP_116191.2 Q8TCT8 SPP2A_HUMAN signal peptide peptidase like 2A 15 AGGTTGCCCCTTTTTCATCAG 0.408000 Melanoma(50;790 1209 4069 22965 33125) 0 SO:0001583 missense ENST00000261854.5 0 1 hg19 CCDS10138.1 . . . . . . . . . . T 5.356 0.250885 0.10130 . . ENSG00000138600 ENST00000261854 T 0.17054 2.3 5.66 4.52 0.55395 . 0.218396 0.51477 D 0.000088 T 0.06508 0.0167 N 0.04746 -0.17 0.20638 N 0.999871 P 0.41475 0.751 B 0.40982 0.345 T 0.14671 -1.0464 10 0.12766 T 0.61 -3.5127 1.9865 0.03437 0.2572:0.0784:0.1375:0.5268 . 460 Q8TCT8 PSL2_HUMAN R 460 ENSP00000261854:K460R ENSP00000261854:K460R K - 2 0 AC012100.1 48799538 1.000000 0.71417 0.976000 0.42696 0.949000 0.60115 2.041000 0.41213 0.955000 0.37878 0.477000 0.44152 AAG TCGA-HZ-8637-01A-11D-2396-08 SPPL2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254543.3 0 0 0 6 437 0 112 0 9.021831e-01 1 304 0 112 2 0 0 0 0 0 2 1 9.642191e-01 6 433 0 112 2 -2.624012 1 1 0 0 1 0 0 0 1.914572 0 0.200000 1.850000 0.148936 0.130000 0.050000 0.260000 0.130000 0.145963 0.130000 0 0.080000 0.200000 HSF4 3299 broad.mit.edu 37 16 67203674 67203674 + Missense_Mutation SNP A A G TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr16:67203674A>G ENST00000521374.1 + 13 1465 c.1465A>G c.(1465-1467)Agt>Ggt p.S489G NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000584272.1_Missense_Mutation_p.S459G|NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000421453.1_Missense_Mutation_p.S459G|HSF4_ENST00000264009.8_Missense_Mutation_p.S489G Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 12 Ovarian(137;0.0563) CCCGGAAGCCAGTCCCTCCCC 0.667000 OREG0023873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000521374.1 1 1 hg19 CCDS42175.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 11.29|11.29 1.593884|1.593884 0.28445|0.28445 .|. .|. ENSG00000102878|ENSG00000102878 ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374 .|. .|. .|. 4.63|4.63 3.47|3.47 0.39725|0.39725 .|. .|0.322852 .|0.26812 .|N .|0.022370 T|T 0.24509|0.24509 0.0594|0.0594 N|N 0.19112|0.19112 0.55|0.55 0.25125|0.25125 N|N 0.990618|0.990618 .|B;B .|0.17268 .|0.021;0.012 .|B;B .|0.21151 .|0.033;0.014 T|T 0.13656|0.13656 -1.0501|-1.0501 5|9 .|0.29301 .|T .|0.29 -17.1419|-17.1419 6.2709|6.2709 0.20953|0.20953 0.8712:0.0:0.1288:0.0|0.8712:0.0:0.1288:0.0 .|. .|459;489 .|Q9ULV5-2;Q9ULV5 .|.;HSF4_HUMAN R|G 220;132|459;489;413;489 .|. .|ENSP00000264009:S489G Q|S +|+ 2|1 0|0 HSF4|HSF4 65761175|65761175 0.525000|0.525000 0.26290|0.26290 0.986000|0.986000 0.45419|0.45419 0.152000|0.152000 0.21847|0.21847 0.176000|0.176000 0.16782|0.16782 0.841000|0.841000 0.35020|0.35020 0.460000|0.460000 0.39030|0.39030 CAG|AGT TCGA-HZ-8637-01A-11D-2396-08 HSF4-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375080.1 1 0 1 36 599 0 180 1 9.694871e-01 23 71 0 180 2 0 0 0 0 0 2 1 1 35 592 0 180 2 -20.000000 1 1 0 0 1 0 0 0 1.978917 0 0.200000 1.850000 0.176955 0.540000 0.390000 0.730000 0.550000 0.560454 0.540000 0 0.460000 0.650000 WWP2 11060 broad.mit.edu 37 16 69832593 69832593 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr16:69832593G>A ENST00000359154.2 + 3 180 c.79G>A c.(79-81)Gca>Aca p.A27T WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 42 AGTGGTGTCCGCAAAGCCCAA 0.527000 OREG0023909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000359154.2 0 1 hg19 CCDS10885.1 . . . . . . . . . . G 24.6 4.551721 0.86127 . . ENSG00000198373 ENST00000359154;ENST00000448661;ENST00000356003 T;T;T 0.80738 -1.41;-1.41;-1.41 5.76 5.76 0.90799 C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1); 0.198406 0.45606 D 0.000349 T 0.76054 0.3934 M 0.67397 2.05 0.80722 D 1 P 0.46020 0.871 B 0.32583 0.148 T 0.78339 -0.2242 9 . . . . 16.6952 0.85333 0.0:0.0:1.0:0.0 . 27 O00308 WWP2_HUMAN T 27 ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T . A + 1 0 WWP2 68390094 1.000000 0.71417 1.000000 0.80357 0.965000 0.64279 4.778000 0.62368 2.713000 0.92767 0.655000 0.94253 GCA TCGA-HZ-8637-01A-11D-2396-08 WWP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268954.1 0 0 0 7 735 0 178 0 1.124622e-01 0 52 0 178 2 0 3.263101e-01 4 506 1 374 7 1 9.801817e-01 7 730 0 176 2 -1.702172 0 1 0 0 1 0 0 0 1.978917 0 0.200000 1.850000 0.176955 0.090000 0.030000 0.180000 0.090000 0.103864 0.090000 0 0.060000 0.140000 ANKRD11 29123 broad.mit.edu 37 16 89341354 89341354 + Silent SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr16:89341354G>A ENST00000301030.4 - 11 8041 c.7581C>T c.(7579-7581)atC>atT p.I2527I ANKRD11_ENST00000378330.2_Silent_p.I2527I NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) CACAGGATACGATCAGCTTCT 0.637000 0 SO:0001819 synonymous_variant ENST00000301030.4 1 1 hg19 CCDS32513.1 TCGA-HZ-8637-01A-11D-2396-08 ANKRD11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000430462.3 1 0 1 45 338 0 88 1 9.971774e-01 17 52 0 88 2 0 0 0 0 0 2 1 1 43 333 0 87 2 -20.000000 1 1 121410 1 31 1 0 1 1 1.852776 1 0.200000 1.850000 0.111111 0.920000 0.730000 1.000000 0.990000 0.910192 0.920000 1 0.830000 0.980000 ABCA10 10349 broad.mit.edu 37 17 67144973 67144973 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr17:67144973G>A ENST00000269081.4 - 40 5536 c.4627C>T c.(4627-4629)Cct>Tct p.P1543S ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 81 Breast(10;6.95e-12) TCATTTTAAGGGTCTTCCTGT 0.338000 0 SO:0001583 missense ENST00000269081.4 1 1 hg19 CCDS11684.1 . . . . . . . . . . G 13.40 2.225136 0.39300 . . ENSG00000154263 ENST00000269081 D 0.88586 -2.4 3.81 0.564 0.17302 . . . . . D 0.88295 0.6398 L 0.29908 0.895 0.19775 N 0.999955 D;D 0.76494 0.994;0.999 P;D 0.69142 0.878;0.962 T 0.77186 -0.2680 9 0.87932 D 0 . 5.6355 0.17534 0.3789:0.0:0.6211:0.0 . 535;1543 B4DPV2;Q8WWZ4 .;ABCAA_HUMAN S 1543 ENSP00000269081:P1543S ENSP00000269081:P1543S P - 1 0 ABCA10 64656568 0.128000 0.22383 0.004000 0.12327 0.010000 0.07245 0.205000 0.17356 0.216000 0.20781 -0.267000 0.10333 CCT TCGA-HZ-8637-01A-11D-2396-08 ABCA10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379881.4 1 0 0 14 277 0 85 0 1.984003e-01 0 16 0 85 2 0 0 0 0 0 2 1 9.997504e-01 13 274 0 84 2 -3.213629 1 1 0 0 1 0 1 1 1.916763 1 0.200000 1.850000 0.111111 0.430000 0.240000 0.670000 0.420000 0.448098 0.430000 0 0.330000 0.550000 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr17:7577548C>T ENST00000269305.4 - 7 922 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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 420 Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1) GRCh37 CM010463|CM900210|CM920674 TP53 M rs28934575 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . C 33 5.259904 0.95368 0.0 1.16E-4 ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944 D;D;D;D;D;D;D;D 0.99894 -7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58 4.62 4.62 0.57501 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.99878 0.9942 M 0.84585 2.705 0.80722 D 1 D;D;D;D;D;D 0.89917 1.0;0.999;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 0.999;0.976;0.992;0.999;0.999;1.0 D 0.96039 0.9023 10 0.87932 D 0 -19.4293 15.3618 0.74483 0.0:1.0:0.0:0.0 rs28934575 245;245;152;245;245;245 P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;P53_HUMAN;.;. S 245;245;245;245;245;245;234;152;113;152 ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S ENSP00000269305:G245S G - 1 0 TP53 7518273 1.000000 0.71417 0.965000 0.40720 0.974000 0.67602 7.609000 0.82925 2.564000 0.86499 0.462000 0.41574 GGC TCGA-HZ-8637-01A-11D-2396-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 81 319 0 116 1 1 77 73 0 116 2 1 1 193 819 0 793 2 1 1 81 315 0 115 2 -2.964390 1 1 121412 1 39 1 0 2 2 2.044442 1 0.200000 1.850000 0.200000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 AQP4 361 broad.mit.edu 37 18 24436320 24436320 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr18:24436320C>T ENST00000383168.4 - 5 955 c.827G>A c.(826-828)aGc>aAc p.S276N AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.S254N|AQP4_ENST00000581374.1_Missense_Mutation_p.S254N|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CTCCATGTAGCTTCCTTTTGT 0.488000 0 SO:0001583 missense ENST00000383168.4 0 1 hg19 CCDS11889.1 . . . . . . . . . . C 12.00 1.806238 0.31961 . . ENSG00000171885 ENST00000383168;ENST00000440832;ENST00000383170 D 0.85955 -2.05 5.75 3.87 0.44632 . 0.399736 0.30492 N 0.009517 T 0.65037 0.2653 N 0.08118 0 0.23401 N 0.997751 B 0.02656 0.0 B 0.06405 0.002 T 0.44283 -0.9338 10 0.31617 T 0.26 . 3.4375 0.07452 0.0:0.4876:0.278:0.2344 . 276 P55087 AQP4_HUMAN N 276;256;172 ENSP00000372654:S276N ENSP00000372654:S276N S - 2 0 AQP4 22690318 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.608000 0.36847 2.717000 0.92951 0.650000 0.86243 AGC TCGA-HZ-8637-01A-11D-2396-08 AQP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254914.2 0 0 0 22 1411 0 363 0 0 1 0 0 363 2 0 0 0 0 0 2 1 9.999985e-01 22 1397 0 361 2 -2.841789 1 1 0 0 1 1 2 3 2.099616 0 0.200000 1.850000 0.215686 0.160000 0.090000 1.000000 0.160000 0.289947 0.160000 0 0.120000 0.250000 TYK2 7297 broad.mit.edu 37 19 10476252 10476252 + Missense_Mutation SNP C C G TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:10476252C>G ENST00000525621.1 - 7 1433 c.952G>C c.(952-954)Gtg>Ctg p.V318L TYK2_ENST00000529370.1_Missense_Mutation_p.V318L|TYK2_ENST00000264818.6_Missense_Mutation_p.V318L|TYK2_ENST00000524462.1_Missense_Mutation_p.V133L NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GTGCCTGTCACCAGCACCTCG 0.677000 0 SO:0001583 missense ENST00000525621.1 0 1 hg19 CCDS12236.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 21.0|21.0 4.086512|4.086512 0.76642|0.76642 .|. .|. ENSG00000105397|ENSG00000105397 ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370|ENST00000525220 D;D;D;D|. 0.87650|. -1.59;-1.56;-1.56;-2.28|. 5.18|5.18 5.18|5.18 0.71444|0.71444 FERM domain (1);|. 0.130327|. 0.32218|. N|. 0.006403|. T|T 0.77391|0.77391 0.4123|0.4123 M|M 0.81682|0.81682 2.555|2.555 0.54753|0.54753 D|D 0.999981|0.999981 D;D|. 0.67145|. 0.994;0.996|. P;P|. 0.60286|. 0.804;0.872|. T|T 0.78966|0.78966 -0.1995|-0.1995 10|5 0.87932|. D|. 0|. -30.7247|-30.7247 16.2126|16.2126 0.82170|0.82170 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 318;318|. E9PPF2;P29597|. .;TYK2_HUMAN|. L|C 133;318;318;65;318|96 ENSP00000433203:V133L;ENSP00000431885:V318L;ENSP00000264818:V318L;ENSP00000432728:V318L|. ENSP00000264818:V318L|. V|W -|- 1|3 0|0 TYK2|TYK2 10337252|10337252 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.489000|0.489000 0.33432|0.33432 4.262000|4.262000 0.58847|0.58847 2.422000|2.422000 0.82143|0.82143 0.561000|0.561000 0.74099|0.74099 GTG|TGG TCGA-HZ-8637-01A-11D-2396-08 TYK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389443.1 0 0 0 7 497 0 147 1 5.030247e-01 2 109 0 147 2 0 0 0 0 0 2 1 9.796081e-01 6 490 0 147 2 -6.200647 1 1 0 0 1 0 1 1 1.987759 0 0.200000 1.850000 0.169263 0.130000 0.050000 0.260000 0.130000 0.150775 0.130000 0 0.090000 0.200000 LTBP4 8425 broad.mit.edu 37 19 41120241 41120241 + Nonsense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:41120241C>T ENST00000308370.7 + 22 2902 c.2902C>T c.(2902-2904)Cga>Tga p.R968* LTBP4_ENST00000545697.1_Nonsense_Mutation_p.R421*|LTBP4_ENST00000204005.9_Nonsense_Mutation_p.R931*|LTBP4_ENST00000396819.3_Nonsense_Mutation_p.R901*|LTBP4_ENST00000243562.9_Nonsense_Mutation_p.R66*|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATGTCGCGAGCGAGGCCCAGC 0.662000 0 SO:0001587 stop_gained ENST00000308370.7 0 1 hg19 . . . . . . . . . . C 40 8.375412 0.98784 . . ENSG00000090006 ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562 . . . 4.42 3.32 0.38043 . 0.436821 0.16974 N 0.191978 . . . . . . 0.25981 N 0.982375 . . . . . . . . . . 0.10902 T 0.67 . 2.7137 0.05181 0.1743:0.5273:0.1922:0.1063 . . . . X 931;421;968;901;66 . ENSP00000204005:R931X R + 1 2 LTBP4 45812081 0.474000 0.25886 0.998000 0.56505 0.950000 0.60333 0.304000 0.19228 2.280000 0.76307 0.455000 0.32223 CGA TCGA-HZ-8637-01A-11D-2396-08 LTBP4-203 KNOWN basic|appris_candidate_longest protein_coding protein_coding 0 0 0 6 346 0 97 0 7.568489e-01 1 154 0 97 2 0 0 0 0 0 2 1 9.643740e-01 6 343 0 96 2 -6.193536 1 1 0 0 1 1 2 3 2.052763 0 0.200000 1.850000 0.207136 0.190000 0.070000 1.000000 0.170000 0.255725 0.190000 0 0.120000 0.300000 ZNF576 79177 broad.mit.edu 37 19 44103397 44103397 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:44103397G>A ENST00000336564.4 + 3 654 c.500G>A c.(499-501)cGg>cAg p.R167Q ZNF576_ENST00000391965.2_Missense_Mutation_p.R167Q|SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000525771.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000533118.1_Missense_Mutation_p.R167Q|ZNF576_ENST00000528387.1_Missense_Mutation_p.R167Q NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 2 Prostate(69;0.0199) CGGCATGCCCGGGGGGAGCTC 0.622000 0 SO:0001583 missense ENST00000336564.4 1 1 hg19 CCDS12625.1 . . . . . . . . . . G 20.6 4.013050 0.75161 . . ENSG00000124444 ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564 T;T;T;T;T;T 0.01347 4.99;4.99;4.99;4.99;4.99;4.99 4.04 3.01 0.34805 Zinc finger, C2H2 (1); 0.190264 0.34580 N 0.003841 T 0.01189 0.0039 L 0.41236 1.265 0.80722 D 1 P 0.47106 0.89 B 0.31547 0.132 T 0.67738 -0.5593 10 0.66056 D 0.02 -20.071 7.5009 0.27518 0.1158:0.0:0.8842:0.0 . 167 Q9H609 ZN576_HUMAN Q 167 ENSP00000375827:R167Q;ENSP00000436182:R167Q;ENSP00000435899:R167Q;ENSP00000435934:R167Q;ENSP00000435463:R167Q;ENSP00000337852:R167Q ENSP00000337852:R167Q R + 2 0 ZNF576 48795237 0.064000 0.20934 0.993000 0.49108 0.676000 0.39594 1.784000 0.38674 1.306000 0.44926 0.655000 0.94253 CGG TCGA-HZ-8637-01A-11D-2396-08 ZNF576-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384397.1 1 0 0 13 253 0 58 1 9.233555e-01 11 78 0 58 2 0 0 0 0 0 2 1 9.993556e-01 13 237 0 54 2 -2.855906 1 1 121406 2 32 1 1 2 3 2.084900 0 0.200000 1.850000 0.212598 0.530000 0.290000 1.000000 0.500000 0.583222 0.530000 0 0.390000 0.780000 SIGLEC9 27180 broad.mit.edu 37 19 51629104 51629104 + Silent SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:51629104G>A ENST00000250360.3 + 2 739 c.672G>A c.(670-672)acG>acA p.T224T SIGLEC9_ENST00000440804.3_Silent_p.T224T NM_014441.2 NP_055256.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 45 all_neural(266;0.0529) GCGTGACCACGAACAAGACCG 0.662000 0 SO:0001819 synonymous_variant ENST00000250360.3 0 1 hg19 CCDS12825.1 TCGA-HZ-8637-01A-11D-2396-08 SIGLEC9-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000464224.1 0 0 0 6 680 0 171 0 4.545529e-02 0 32 0 171 2 0 0 0 0 0 2 1 9.636218e-01 6 671 0 166 2 -2.732389 1 1 121412 21 46 1 1 2 3 2.071109 0 0.200000 1.850000 0.210267 0.090000 0.030000 1.000000 0.090000 0.196056 0.090000 0 0.060000 0.170000 NLRP12 91662 broad.mit.edu 37 19 54314419 54314419 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:54314419T>C ENST00000324134.6 - 3 662 c.494A>G c.(493-495)gAg>gGg p.E165G NLRP12_ENST00000535162.1_Missense_Mutation_p.E165G|NLRP12_ENST00000354278.3_Missense_Mutation_p.E165G|NLRP12_ENST00000391772.1_Missense_Mutation_p.E165G|NLRP12_ENST00000345770.5_Missense_Mutation_p.E165G|NLRP12_ENST00000391773.1_Missense_Mutation_p.E165G|NLRP12_ENST00000351894.4_Missense_Mutation_p.E165G|NLRP12_ENST00000391775.3_Missense_Mutation_p.E165G NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 80 Ovarian(34;0.19) GTTTGAGTGCTCCTTCACCAG 0.612000 0 SO:0001583 missense ENST00000324134.6 0 1 hg19 CCDS12864.1 . . . . . . . . . . T 16.00 2.998559 0.54147 . . ENSG00000142405 ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772 D;D;D;D;D;D;D 0.86956 -2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19 4.25 3.21 0.36854 . 0.156011 0.29707 N 0.011410 D 0.90745 0.7095 M 0.78801 2.425 0.80722 D 1 D;D;D;D 0.89917 0.999;1.0;0.999;1.0 D;D;D;D 0.66716 0.922;0.946;0.922;0.946 D 0.89923 0.4060 10 0.72032 D 0.01 . 5.111 0.14809 0.0:0.221:0.0:0.7789 . 165;165;165;165 F2Z321;A8K407;A8MTQ2;P59046 .;.;.;NAL12_HUMAN G 165 ENSP00000319377:E165G;ENSP00000438030:E165G;ENSP00000340473:E165G;ENSP00000346231:E165G;ENSP00000375655:E165G;ENSP00000375653:E165G;ENSP00000375652:E165G ENSP00000319377:E165G E - 2 0 NLRP12 59006231 0.002000 0.14202 0.979000 0.43373 0.937000 0.57800 1.332000 0.33805 1.716000 0.51395 0.254000 0.18369 GAG TCGA-HZ-8637-01A-11D-2396-08 NLRP12-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000134340.1 0 0 0 5 607 1 143 0 1.112259e-04 0 2 1 143 2 0 0 0 0 0 2 0 1.783473e-02 5 596 1 142 15 -3.286626 1 1 0 0 1 1 2 3 2.088948 0 0.200000 1.850000 0.213373 0.090000 0.020000 1.000000 0.090000 0.218211 0.090000 0 0.050000 0.190000 NLRP7 199713 broad.mit.edu 37 19 55450705 55450705 + Silent SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:55450705G>A ENST00000590030.1 - 3 1522 c.1482C>T c.(1480-1482)gcC>gcT p.A494A NLRP7_ENST00000446217.1_Silent_p.A522A|NLRP7_ENST00000588756.1_Silent_p.A494A|NLRP7_ENST00000592784.1_Silent_p.A494A|NLRP7_ENST00000340844.2_Silent_p.A494A|NLRP7_ENST00000328092.5_Silent_p.A494A|NLRP7_ENST00000448121.2_Silent_p.A494A Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 73 CGATGTCCCAGGCGTGGCCGT 0.567000 0 SO:0001819 synonymous_variant ENST00000590030.1 1 1 hg19 CCDS33109.1 TCGA-HZ-8637-01A-11D-2396-08 NLRP7-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000451396.1 0 0 0 14 483 0 117 0 2.956655e-02 0 9 0 117 2 0 0 0 0 0 2 1 9.997312e-01 14 475 0 117 2 -12.672340 1 1 121412 3 36 1 1 2 3 2.104591 0 0.200000 1.850000 0.216454 0.310000 0.160000 1.000000 0.290000 0.414235 0.310000 0 0.230000 0.560000 ZNF749 388567 broad.mit.edu 37 19 57956396 57956396 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:57956396T>C ENST00000334181.4 + 3 2130 c.1880T>C c.(1879-1881)cTg>cCg p.L627P AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) CGCTGTACACTGAGTAGACAT 0.363000 0 SO:0001583 missense ENST00000334181.4 0 1 hg19 CCDS33132.2 . . . . . . . . . . T 14.39 2.521528 0.44866 . . ENSG00000186230 ENST00000334181 T 0.53857 0.6 2.36 2.36 0.29203 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.73009 0.3532 M 0.86740 2.835 0.09310 N 1 D 0.89917 1.0 D 0.97110 1.0 T 0.60042 -0.7340 9 0.87932 D 0 . 9.3548 0.38159 0.0:0.0:0.0:1.0 . 627 O43361 ZN749_HUMAN P 627 ENSP00000333980:L627P ENSP00000333980:L627P L + 2 0 ZNF749 62648208 0.071000 0.21146 0.001000 0.08648 0.364000 0.29643 2.842000 0.48230 1.069000 0.40788 0.260000 0.18958 CTG TCGA-HZ-8637-01A-11D-2396-08 ZNF749-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317879.1 0 0 0 14 571 0 144 1 2.188233e-02 2 7 0 144 2 0 0 0 0 0 2 1 9.997545e-01 14 570 0 144 2 -11.568430 1 1 0 0 1 1 2 3 2.104591 0 0.200000 1.850000 0.216454 0.260000 0.140000 1.000000 0.240000 0.375995 0.260000 0 0.190000 0.480000 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 590 TCATGGAAAAAGGGATAGCTG 0.522000 0 SO:0001819 synonymous_variant ENST00000397910.4 0 1 hg19 CCDS54212.1 TCGA-HZ-8637-01A-11D-2396-08 MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 0 0 0 5 466 1 120 0 0 0 1 1 120 2 0 0 0 0 0 2 0 1.919073e-02 5 465 1 119 15 -2.332097 0 1 0 0 1 0 1 1 1.987759 0 0.200000 1.850000 0.169263 0.100000 0.030000 0.220000 0.100000 0.120889 0.100000 0 0.060000 0.170000 PBXIP1 57326 broad.mit.edu 37 1 154918663 154918663 + Missense_Mutation SNP T T A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr1:154918663T>A ENST00000368463.3 - 10 1558 c.1487A>T c.(1486-1488)gAa>gTa p.E496V PBXIP1_ENST00000368465.1_Missense_Mutation_p.E467V|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Missense_Mutation_p.E323V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.E341V NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCGGCCAGATTCTTCCTTCTT 0.572000 0 SO:0001583 missense ENST00000368463.3 0 1 hg19 CCDS1074.1 . . . . . . . . . . T 9.099 1.003675 0.19121 . . ENSG00000163346 ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459 T;T;T;T 0.16743 2.33;2.32;2.4;2.35 5.0 -0.118 0.13547 . 0.910077 0.09504 N 0.793175 T 0.05868 0.0153 L 0.46157 1.445 0.25606 N 0.986545 P 0.49358 0.923 P 0.46110 0.504 T 0.18967 -1.0320 10 0.41790 T 0.15 -1.4959 1.4242 0.02319 0.1407:0.1709:0.1462:0.5422 . 496 Q96AQ6 PBIP1_HUMAN V 467;496;496;323;272;341 ENSP00000357450:E467V;ENSP00000357448:E496V;ENSP00000440142:E323V;ENSP00000438584:E341V ENSP00000295523:E496V E - 2 0 PBXIP1 153185287 0.002000 0.14202 0.074000 0.20217 0.034000 0.12701 -0.111000 0.10807 -0.172000 0.10779 -0.377000 0.06932 GAA TCGA-HZ-8637-01A-11D-2396-08 PBXIP1-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090943.1 0 0 0 16 1845 0 427 1 9.745784e-01 20 674 0 427 2 0 0 0 0 0 2 0 0 0 0 0 2 -7.452377 1 0 0 0 1 2 2 4 2.217894 1 0.200000 1.850000 0.270073 0.100000 0.040000 1.000000 0.090000 0.317810 0.100000 0 0.070000 1.000000 ARHGEF11 9826 broad.mit.edu 37 1 156914928 156914928 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr1:156914928C>T ENST00000361409.2 - 29 3496 c.2754G>A c.(2752-2754)aaG>aaA p.K918K ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.K334K|ARHGEF11_ENST00000368194.3_Silent_p.K958K NM_014784.3 NP_055599.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATTCACATACTTGAGAATCT 0.587000 0 SO:0001819 synonymous_variant ENST00000361409.2 1 1 hg19 CCDS1162.1 TCGA-HZ-8637-01A-11D-2396-08 ARHGEF11-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000098931.1 1 0 1 124 746 0 162 1 9.999996e-01 32 91 0 162 2 0 0 0 0 0 2 1 1 123 741 0 159 2 -20.000000 1 1 0 0 1 2 2 4 2.217894 1 0.200000 1.850000 0.270073 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ASPM 259266 broad.mit.edu 37 1 197072159 197072159 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr1:197072159C>T ENST00000367409.4 - 18 6478 c.6222G>A c.(6220-6222)caG>caA p.Q2074Q ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) p.Q2074Q(1) 165 GATACCATCTCTGAATTATAA 0.323000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000367409.4 1 1 hg19 CCDS1389.1 TCGA-HZ-8637-01A-11D-2396-08 ASPM-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000088256.1 0 0 0 21 689 0 103 1 1.173547e-01 2 17 0 103 2 0 0 0 0 0 2 1 9.999973e-01 21 684 0 103 2 -2.936055 1 1 0 0 1 2 2 4 2.217894 1 0.200000 1.850000 0.270073 0.350000 0.210000 1.000000 0.330000 0.497786 0.350000 0 0.270000 1.000000 NUDC 10726 broad.mit.edu 37 1 27269375 27269375 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr1:27269375T>C ENST00000321265.5 + 6 683 c.560T>C c.(559-561)tTc>tCc p.F187S NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 8 GCGGTCCCTTTCTGTGTGAAC 0.617000 0 SO:0001583 missense ENST00000321265.5 1 1 hg19 CCDS292.1 . . . . . . . . . . T 17.68 3.450465 0.63290 . . ENSG00000090273 ENST00000435827;ENST00000321265 T 0.76578 -1.03 5.37 5.37 0.77165 CS-like domain (1);CS domain (1);HSP20-like chaperone (1); 0.000000 0.85682 D 0.000000 D 0.84624 0.5513 M 0.73962 2.25 0.80722 D 1 P;P 0.49090 0.919;0.732 P;P 0.54499 0.754;0.551 D 0.86304 0.1682 10 0.59425 D 0.04 -1.6956 15.4283 0.75072 0.0:0.0:0.0:1.0 . 138;187 Q9H2R7;Q9Y266 .;NUDC_HUMAN S 191;187 ENSP00000319664:F187S ENSP00000319664:F187S F + 2 0 NUDC 27141962 1.000000 0.71417 0.939000 0.37840 0.122000 0.20287 7.697000 0.84279 2.056000 0.61249 0.451000 0.29950 TTC TCGA-HZ-8637-01A-11D-2396-08 NUDC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012172.2 1 0 1 24 220 0 57 1 1 122 278 0 57 2 0 0 0 0 0 2 1 9.999997e-01 23 216 0 55 2 -20.000000 1 1 0 0 1 0 0 0 2.013241 0 0.200000 1.850000 0.190283 0.960000 0.640000 1.000000 1.000000 0.918726 0.960000 1 0.790000 1.000000 RPA2 6118 broad.mit.edu 37 1 28240575 28240575 + Splice_Site SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr1:28240575G>A ENST00000373912.3 - 2 415 c.116C>T c.(115-117)tCa>tTa p.S39L RPA2_ENST00000313433.7_Splice_Site_p.S127L|RPA2_ENST00000373909.3_Splice_Site_p.S47L NM_002946.3 NP_002937.1 P15927 RFA2_HUMAN replication protein A2, 32kDa 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) TCAACCTACTGATTTCTTTTC 0.493000 Direct reversal of damage;Nucleotide excision repair (NER) 0 SO:0001630 splice_region_variant ENST00000373912.3 0 1 hg19 CCDS314.1 . . . . . . . . . . G 16.45 3.126577 0.56721 . . ENSG00000117748 ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045 T;T;T;T 0.25085 2.12;2.12;2.09;1.82 4.59 4.59 0.56863 . 0.415066 0.27088 N 0.020998 T 0.31482 0.0798 L 0.53249 1.67 0.42689 D 0.993576 B;P 0.35944 0.161;0.529 B;B 0.39840 0.081;0.311 T 0.20706 -1.0267 10 0.59425 D 0.04 -0.0166 16.5256 0.84330 0.0:0.0:1.0:0.0 . 39;47 P15927;P15927-2 RFA2_HUMAN;. L 39;47;127;43 ENSP00000363021:S39L;ENSP00000363017:S47L;ENSP00000363015:S127L;ENSP00000387649:S43L ENSP00000363015:S127L S - 2 0 RPA2 28113162 0.998000 0.40836 0.966000 0.40874 0.153000 0.21895 2.806000 0.47947 2.261000 0.74972 0.555000 0.69702 TCA TCGA-HZ-8637-01A-11D-2396-08 RPA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011179.1 0 0 0 5 225 0 56 1 9.675937e-01 5 284 0 56 2 0 0 0 0 0 2 1 9.367836e-01 5 223 0 56 2 -6.462785 1 1 0 0 1 0 0 0 2.013241 0 0.200000 1.850000 0.190283 0.230000 0.080000 0.460000 0.210000 0.250808 0.230000 0 0.140000 0.340000 PARK7 11315 broad.mit.edu 37 1 8031011 8031011 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr1:8031011G>A ENST00000493678.1 + 5 377 c.310G>A c.(310-312)Gcc>Acc p.A104T PARK7_ENST00000377488.1_Missense_Mutation_p.A104T|PARK7_ENST00000338639.5_Missense_Mutation_p.A104T|PARK7_ENST00000377493.5_Missense_Mutation_p.A84T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377491.1_Missense_Mutation_p.A104T Q99497 PARK7_HUMAN parkinson protein 7 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) CCTGATAGCCGCCATCTGTGC 0.488000 0 GRCh37 CM032052 PARK7 M SO:0001583 missense ENST00000493678.1 0 1 hg19 CCDS93.1 . . . . . . . . . . G 25.0 4.592116 0.86953 . . ENSG00000116288 ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488 D;D;D;D 0.84800 -1.9;-1.9;-1.9;-1.9 5.11 5.11 0.69529 ThiJ/PfpI (1); 0.098549 0.64402 D 0.000001 D 0.92805 0.7712 M 0.90145 3.09 0.80722 D 1 D 0.64830 0.994 D 0.63488 0.915 D 0.93915 0.7200 10 0.72032 D 0.01 . 14.4721 0.67523 0.0:0.0:1.0:0.0 . 104 Q99497 PARK7_HUMAN T 104 ENSP00000340278:A104T;ENSP00000418770:A104T;ENSP00000366711:A104T;ENSP00000366708:A104T ENSP00000340278:A104T A + 1 0 PARK7 7953598 1.000000 0.71417 0.970000 0.41538 0.583000 0.36354 8.154000 0.89641 2.542000 0.85734 0.650000 0.86243 GCC TCGA-HZ-8637-01A-11D-2396-08 PARK7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000003577.1 0 0 0 5 413 0 102 1 9.998995e-01 3 2183 0 102 2 0 0 0 0 0 2 1 9.375019e-01 6 411 0 102 2 -2.319697 0 1 121412 41 47 1 0 1 1 2.023824 0 0.200000 1.850000 0.195980 0.120000 0.040000 0.260000 0.120000 0.140753 0.120000 0 0.070000 0.190000 SLC12A5 57468 broad.mit.edu 37 20 44685057 44685057 + Silent SNP C C A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr20:44685057C>A ENST00000454036.2 + 23 3082 c.3033C>A c.(3031-3033)tcC>tcA p.S1011S SLC12A5_ENST00000243964.3_Silent_p.S988S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCTCCCCGTCCCCAGGGGAGG 0.607000 0 SO:0001819 synonymous_variant ENST00000454036.2 0 1 hg19 CCDS46610.1 TCGA-HZ-8637-01A-11D-2396-08 SLC12A5-003 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000471538.1 0 0 0 5 211 0 57 0 8.797285e-04 0 2 0 57 2 0 0 0 0 0 2 1 9.367370e-01 5 209 0 57 2 -6.948549 1 1 0 0 1 1 2 3 2.082053 0 0.200000 1.850000 0.212598 0.270000 0.090000 1.000000 0.240000 0.366043 0.270000 0 0.160000 0.500000 ZNF831 128611 broad.mit.edu 37 20 57766652 57766652 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr20:57766652C>T ENST00000371030.2 + 1 578 c.578C>T c.(577-579)aCg>aTg p.T193M NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 125 all_lung(29;0.0085) CACAGGCGGACGCAGACGCAC 0.662000 0 SO:0001583 missense ENST00000371030.2 0 1 hg19 CCDS42894.1 . . . . . . . . . . C 14.96 2.690629 0.48097 . . ENSG00000124203 ENST00000371030 T 0.31510 1.49 5.41 4.45 0.53987 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.42832 0.1220 L 0.27053 0.805 0.41770 D 0.989768 D 0.89917 1.0 D 0.85130 0.997 T 0.45614 -0.9249 9 0.87932 D 0 -12.0165 14.5325 0.67936 0.1475:0.8525:0.0:0.0 . 193 Q5JPB2 ZN831_HUMAN M 193 ENSP00000360069:T193M ENSP00000360069:T193M T + 2 0 ZNF831 57200047 1.000000 0.71417 0.993000 0.49108 0.156000 0.22039 7.755000 0.85180 1.259000 0.44117 0.561000 0.74099 ACG TCGA-HZ-8637-01A-11D-2396-08 ZNF831-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000079916.2 0 0 0 6 766 0 175 0 0 0 1 0 175 2 0 0 0 0 0 2 1 9.625691e-01 6 749 0 174 2 -3.190266 1 1 0 0 1 1 2 3 2.082053 0 0.200000 1.850000 0.212598 0.080000 0.020000 1.000000 0.080000 0.205699 0.080000 0 0.050000 0.160000 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 p.S34F(45)|p.S34Y(12) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis CLL, MDS Dom yes 21 21q22.3 7307 U2 small nuclear RNA auxiliary factor 1 L 57 Substitution - Missense(57) SO:0001583 missense ENST00000291552.4 1 1 hg19 CCDS13694.1 . . . . . . . . . . G 29.7 5.025187 0.93518 2.27E-4 0.0 ENSG00000160201 ENST00000380276;ENST00000291552 T;T 0.46063 0.88;0.88 5.47 5.47 0.80525 Zinc finger, CCCH-type (3); 0.000000 0.85682 D 0.000000 T 0.77239 0.4101 H 0.96430 3.82 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.997;0.997 D 0.84864 0.0821 10 0.87932 D 0 -15.7954 19.3169 0.94218 0.0:0.0:1.0:0.0 . 34;34;34 Q69YM7;Q01081;Q701P4 .;U2AF1_HUMAN;. F 34 ENSP00000369629:S34F;ENSP00000291552:S34F ENSP00000291552:S34F S - 2 0 U2AF1 43397525 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.864000 0.92294 2.560000 0.86352 0.563000 0.77884 TCT TCGA-HZ-8637-01A-11D-2396-08 U2AF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000195541.1 1 0 1 24 232 0 81 1 1 54 372 0 81 2 1 1 51 495 0 366 2 1 9.999997e-01 24 228 0 80 2 -3.142704 1 1 121412 5 36 1 0 0 0 1.940263 0 0.200000 1.850000 0.159664 0.880000 0.590000 1.000000 1.000000 0.871420 0.880000 1 0.720000 1.000000 RNF149 284996 broad.mit.edu 37 2 101898405 101898405 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:101898405G>A ENST00000295317.3 - 6 1182 c.1075C>T c.(1075-1077)Cca>Tca p.P359S NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 12 GCTGATGGTGGACTGCTGTCA 0.507000 Colon(25;331 612 6521 7355 31028) 0 SO:0001583 missense ENST00000295317.3 0 1 hg19 CCDS2051.1 . . . . . . . . . . G 6.110 0.388625 0.11581 . . ENSG00000163162 ENST00000295317 T 0.09255 3.0 5.63 0.874 0.19124 . 1.265960 0.05900 N 0.629823 T 0.02888 0.0086 N 0.00926 -1.1 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.40608 -0.9554 10 0.06099 T 0.92 . 4.9472 0.13994 0.5279:0.0:0.3314:0.1408 . 359 Q8NC42 RN149_HUMAN S 359 ENSP00000295317:P359S ENSP00000295317:P359S P - 1 0 RNF149 101264837 0.001000 0.12720 0.000000 0.03702 0.002000 0.02628 0.576000 0.23744 0.190000 0.20209 0.563000 0.77884 CCA TCGA-HZ-8637-01A-11D-2396-08 RNF149-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253180.2 0 0 0 6 657 0 195 1 9.380382e-01 8 538 0 195 2 0 0 0 0 0 2 1 9.642608e-01 7 651 0 195 2 -3.062763 1 1 0 0 1 0 0 0 2.007592 0 0.200000 1.850000 0.188641 0.090000 0.030000 0.180000 0.090000 0.103117 0.090000 0 0.050000 0.140000 CSRNP3 80034 broad.mit.edu 37 2 166514474 166514474 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:166514474C>T ENST00000342316.4 + 3 624 c.352C>T c.(352-354)Cgg>Tgg p.R118W CSRNP3_ENST00000314499.7_Missense_Mutation_p.R118W|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R150W NM_024969.3 NP_079245.2 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 33 GAGGCTCCACCGGGAGATGTT 0.507000 0 SO:0001583 missense ENST00000342316.4 1 1 hg19 CCDS2225.1 . . . . . . . . . . C 18.12 3.553765 0.65425 . . ENSG00000178662 ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420 T;T;T;T;T 0.14893 2.47;2.47;2.47;2.47;2.47 5.44 3.43 0.39272 . 0.108850 0.64402 D 0.000015 T 0.32704 0.0838 L 0.59912 1.85 0.43160 D 0.994949 D 0.71674 0.998 P 0.59643 0.861 T 0.14172 -1.0482 10 0.56958 D 0.05 -9.7028 14.2181 0.65807 0.3795:0.6205:0.0:0.0 . 118 Q8WYN3 CSRN3_HUMAN W 118;125;118;118;118;150 ENSP00000412081:R118W;ENSP00000318258:R118W;ENSP00000386278:R118W;ENSP00000344042:R118W;ENSP00000387195:R150W ENSP00000318258:R118W R + 1 2 CSRNP3 166222720 1.000000 0.71417 0.999000 0.59377 0.583000 0.36354 2.123000 0.41996 1.263000 0.44181 0.563000 0.77884 CGG TCGA-HZ-8637-01A-11D-2396-08 CSRNP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255191.2 1 0 0 25 248 0 84 0 9.249012e-03 0 2 0 84 2 0 0 0 0 0 2 1 9.999999e-01 25 245 0 84 2 -2.879461 1 1 121408 2 31 1 0 0 0 2.007592 0 0.200000 1.850000 0.188641 0.900000 0.600000 1.000000 1.000000 0.881519 0.900000 1 0.740000 1.000000 FN1 2335 broad.mit.edu 37 2 216246983 216246983 + Missense_Mutation SNP G G C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:216246983G>C ENST00000359671.1 - 31 5108 c.4843C>G c.(4843-4845)Cag>Gag p.Q1615E FN1_ENST00000357867.4_Missense_Mutation_p.Q1615E|FN1_ENST00000345488.5_Missense_Mutation_p.Q1615E|FN1_ENST00000336916.4_Missense_Mutation_p.Q1615E|FN1_ENST00000432072.2_Missense_Mutation_p.Q1706E|FN1_ENST00000446046.1_Missense_Mutation_p.Q1615E|FN1_ENST00000357009.2_Missense_Mutation_p.Q1615E|FN1_ENST00000346544.3_Missense_Mutation_p.Q1615E|FN1_ENST00000356005.4_Missense_Mutation_p.Q1615E|FN1_ENST00000323926.6_Missense_Mutation_p.Q1706E|FN1_ENST00000421182.1_Missense_Mutation_p.Q1615E|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000354785.4_Missense_Mutation_p.Q1706E|FN1_ENST00000443816.1_Missense_Mutation_p.Q1615E P02751 FINC_HUMAN fibronectin 1 FN1/ALK(2) 109 Renal(323;0.127) Ocriplasmin(DB08888) CTTGGATTCTGAGCATAGACA 0.448000 0 SO:0001583 missense ENST00000359671.1 1 1 hg19 . . . . . . . . . . G 17.49 3.403313 0.62288 . . ENSG00000115414 ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923 T;T;T;T;T;T;T;T;T;T;T;T;T;T 0.57273 0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41 5.91 5.91 0.95273 . 0.089806 0.48286 D 0.000200 T 0.65893 0.2735 L 0.34521 1.04 0.20638 N 0.999873 D;P;P;P;D;D;D;D;D;P;P;D 0.62365 0.991;0.904;0.946;0.478;0.975;0.989;0.991;0.971;0.981;0.946;0.946;0.973 D;D;D;P;P;D;D;P;D;D;D;D 0.79784 0.993;0.953;0.953;0.693;0.832;0.989;0.993;0.77;0.993;0.953;0.953;0.98 T 0.60974 -0.7156 10 0.72032 D 0.01 . 20.2985 0.98592 0.0:0.0:1.0:0.0 . 1406;1615;1706;1706;1615;1615;1615;1615;1616;1615;1615;1706 Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15 .;.;.;.;.;.;.;.;.;.;.;. E 1615;1706;1615;1615;1706;1616;1615;1615;1615;1615;1615;1615;1706;1615;422 ENSP00000394423:Q1615E;ENSP00000323534:Q1706E;ENSP00000338200:Q1615E;ENSP00000350534:Q1615E;ENSP00000346839:Q1706E;ENSP00000352696:Q1615E;ENSP00000265312:Q1615E;ENSP00000273049:Q1615E;ENSP00000349509:Q1615E;ENSP00000410422:Q1615E;ENSP00000415018:Q1615E;ENSP00000399538:Q1706E;ENSP00000348285:Q1615E;ENSP00000416139:Q422E ENSP00000265313:Q1616E Q - 1 0 FN1 215955228 1.000000 0.71417 0.988000 0.46212 0.692000 0.40212 6.444000 0.73452 2.793000 0.96121 0.655000 0.94253 CAG TCGA-HZ-8637-01A-11D-2396-08 FN1-204 KNOWN basic protein_coding protein_coding 1 0 0 32 324 0 104 1 1 32 3395 0 104 2 0 0 0 0 0 2 1 1 33 323 0 104 2 -2.920854 1 1 0 0 1 0 4 4 2.189860 1 0.200000 1.850000 0.260628 0.990000 0.700000 1.000000 1.000000 0.945640 0.990000 1 0.840000 1.000000 COL4A4 1286 broad.mit.edu 37 2 227945177 227945177 + Silent SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:227945177T>C ENST00000396625.3 - 24 1992 c.1785A>G c.(1783-1785)aaA>aaG p.K595K COL4A4_ENST00000329662.7_Silent_p.K595K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) CTGGATCCCCTTTTTCTCCAG 0.463000 0 SO:0001819 synonymous_variant ENST00000396625.3 0 1 hg19 CCDS42828.1 TCGA-HZ-8637-01A-11D-2396-08 COL4A4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000313770.1 0 0 0 9 937 0 217 0 5.133982e-03 0 10 0 217 2 0 0 0 0 0 2 1 9.940257e-01 10 930 0 216 2 -1.708373 0 1 0 0 1 0 4 4 2.189860 1 0.200000 1.850000 0.260628 0.120000 0.040000 1.000000 0.110000 0.321440 0.120000 0 0.070000 1.000000 ALPPL2 251 broad.mit.edu 37 2 233273223 233273223 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:233273223G>A ENST00000295453.3 + 7 848 c.796G>A c.(796-798)Gtg>Atg p.V266M NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Amifostine(DB01143) TGCCCGGTACGTGTGGAACCG 0.677000 0 SO:0001583 missense ENST00000295453.3 1 1 hg19 CCDS2491.1 . . . . . . . . . . g 17.79 3.475270 0.63737 . . ENSG00000163286 ENST00000295453 D 0.98313 -4.86 3.37 3.37 0.38596 Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.99309 0.9758 H 0.97587 4.035 0.51233 D 0.99991 D 0.89917 1.0 D 0.83275 0.996 D 0.98561 1.0641 10 0.87932 D 0 . 15.0806 0.72110 0.0:0.0:1.0:0.0 . 266 P10696 PPBN_HUMAN M 266 ENSP00000295453:V266M ENSP00000295453:V266M V + 1 0 ALPPL2 232981467 1.000000 0.71417 0.667000 0.29798 0.103000 0.19146 4.761000 0.62243 1.572000 0.49736 0.411000 0.27672 GTG TCGA-HZ-8637-01A-11D-2396-08 ALPPL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257034.2 1 0 0 91 884 0 193 0 8.954418e-03 1 1 0 193 2 0 0 0 0 0 2 1 1 91 876 0 200 2 -19.999930 1 0 121288 2 30 1 0 4 4 2.222046 1 0.200000 1.850000 0.333333 0.990000 0.910000 1.000000 1.000000 0.993494 0.990000 1 0.990000 1.000000 LRRTM1 347730 broad.mit.edu 37 2 80530477 80530477 + Silent SNP G G T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:80530477G>T ENST00000295057.3 - 2 1124 c.468C>A c.(466-468)ctC>ctA p.L156L LRRTM1_ENST00000409148.1_Silent_p.L156L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 63 GCCCGTGGAAGAGGTCGGGCG 0.637000 HNSCC(69;0.2) 0 SO:0001819 synonymous_variant ENST00000295057.3 0 1 hg19 CCDS1966.1 TCGA-HZ-8637-01A-11D-2396-08 LRRTM1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313614.1 0 0 0 13 477 0 110 0 8.111271e-03 0 5 0 110 2 0 0 0 0 0 2 1 9.995052e-01 13 471 0 110 2 -3.731229 1 1 0 0 1 0 0 0 1.961225 0 0.200000 1.850000 0.168399 0.250000 0.140000 0.410000 0.250000 0.270987 0.250000 0 0.190000 0.340000 SNRNP200 23020 broad.mit.edu 37 2 96943638 96943638 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr2:96943638C>T ENST00000323853.5 - 40 5738 c.5661G>A c.(5659-5661)ccG>ccA p.P1887P SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 90 TCTTGACGTGCGGATCATTGA 0.498000 0 SO:0001819 synonymous_variant ENST00000323853.5 1 1 hg19 CCDS2020.1 TCGA-HZ-8637-01A-11D-2396-08 SNRNP200-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252846.2 0 0 0 21 758 0 188 1 9.992998e-01 40 373 0 188 2 0 0 0 0 0 2 1 9.999973e-01 21 753 0 188 2 -2.881146 1 1 121412 8 42 1 0 0 0 2.007592 0 0.200000 1.850000 0.188641 0.260000 0.160000 0.390000 0.260000 0.276215 0.260000 0 0.210000 0.330000 MYH15 22989 broad.mit.edu 37 3 108129678 108129678 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr3:108129678T>C ENST00000273353.3 - 32 4363 c.4307A>G c.(4306-4308)gAg>gGg p.E1436G NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 105 GTCCCCGAGCTCCAGCTGCAG 0.627000 0 SO:0001583 missense ENST00000273353.3 1 1 hg19 CCDS43127.1 . . . . . . . . . . T 16.96 3.267172 0.59540 . . ENSG00000144821 ENST00000273353 D 0.85629 -2.01 5.2 5.2 0.72013 Myosin tail (1); . . . . D 0.93141 0.7816 M 0.88512 2.96 0.54753 D 0.999989 D 0.69078 0.997 D 0.73708 0.981 D 0.94435 0.7653 9 0.87932 D 0 . 15.0504 0.71865 0.0:0.0:0.0:1.0 . 1436 Q9Y2K3 MYH15_HUMAN G 1436 ENSP00000273353:E1436G ENSP00000273353:E1436G E - 2 0 MYH15 109612368 1.000000 0.71417 0.076000 0.20297 0.040000 0.13550 5.798000 0.69095 1.962000 0.57031 0.459000 0.35465 GAG TCGA-HZ-8637-01A-11D-2396-08 MYH15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353935.1 1 0 0 16 288 0 69 0 0 1 0 0 69 2 0 0 0 0 0 2 1 9.999342e-01 16 285 0 68 2 -18.290660 1 1 0 0 1 0 0 0 1.894115 1 0.200000 1.850000 0.139785 0.490000 0.290000 0.740000 0.480000 0.506228 0.490000 0 0.380000 0.620000 PLXNA1 5361 broad.mit.edu 37 3 126736303 126736303 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr3:126736303C>T ENST00000393409.2 + 17 3312 c.3312C>T c.(3310-3312)tgC>tgT p.C1104C PLXNA1_ENST00000251772.4_Silent_p.C1081C NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 67 CCATGGTATGCCGCGCCCCGT 0.677000 0 SO:0001819 synonymous_variant ENST00000393409.2 0 1 hg19 CCDS33847.2 TCGA-HZ-8637-01A-11D-2396-08 PLXNA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356451.1 0 0 0 5 376 0 80 0 2.862245e-01 0 68 0 80 2 0 0 0 0 0 2 1 9.352974e-01 5 370 0 80 2 -3.112449 1 1 0 0 1 0 0 0 1.894115 1 0.200000 1.850000 0.139785 0.130000 0.040000 0.260000 0.120000 0.143344 0.130000 0 0.080000 0.200000 TRANK1 9881 broad.mit.edu 37 3 36872996 36872996 + Missense_Mutation SNP T T A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr3:36872996T>A ENST00000429976.2 - 21 8193 c.7946A>T c.(7945-7947)gAg>gTg p.E2649V TRANK1_ENST00000428977.2_Missense_Mutation_p.E2099V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2099V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 73 TTCATCCATCTCATCCTGGCC 0.532000 0 SO:0001583 missense ENST00000429976.2 1 1 hg19 CCDS46789.2 . . . . . . . . . . T 13.18 2.160380 0.38119 . . ENSG00000168016 ENST00000428977;ENST00000429976;ENST00000301807 T;T;T 0.35236 1.32;1.73;1.32 5.6 4.41 0.53225 . 0.096709 0.44902 D 0.000403 T 0.31482 0.0798 M 0.65975 2.015 0.30121 N 0.805724 P 0.40731 0.728 B 0.28139 0.086 T 0.43734 -0.9373 10 0.87932 D 0 . 11.1111 0.48232 0.0:0.0:0.1553:0.8447 . 2649 O15050 TRNK1_HUMAN V 2099;2649;2099 ENSP00000416826:E2099V;ENSP00000416168:E2649V;ENSP00000301807:E2099V ENSP00000301807:E2099V E - 2 0 TRANK1 36848000 0.949000 0.32298 0.652000 0.29579 0.537000 0.34900 2.449000 0.44935 1.035000 0.39972 0.459000 0.35465 GAG TCGA-HZ-8637-01A-11D-2396-08 TRANK1-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 1 11 123 0 34 1 9.927052e-01 8 90 0 34 2 0 0 0 0 0 2 1 9.985014e-01 11 122 0 34 2 -5.970849 1 1 0 0 1 0 1 1 1.845907 1 0.200000 1.850000 0.111111 0.690000 0.380000 0.970000 0.700000 0.701561 0.690000 0 0.530000 0.870000 GRM2 2912 broad.mit.edu 37 3 51743379 51743379 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr3:51743379C>T ENST00000395052.3 + 2 614 c.380C>T c.(379-381)gCg>gTg p.A127V GRM2_ENST00000442933.2_Missense_Mutation_p.A127V|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 33 GGCTCTTATGCGACCCATGGT 0.587000 0 SO:0001583 missense ENST00000395052.3 0 1 hg19 CCDS2834.1 . . . . . . . . . . C 29.1 4.981130 0.93044 . . ENSG00000164082 ENST00000395052;ENST00000442933 D;D 0.84589 -1.87;-1.87 5.42 5.42 0.78866 Extracellular ligand-binding receptor (1); 0.062472 0.64402 D 0.000006 D 0.85500 0.5711 L 0.37630 1.12 0.80722 D 1 P 0.48230 0.907 P 0.49887 0.625 D 0.86902 0.2055 10 0.66056 D 0.02 . 19.2362 0.93861 0.0:1.0:0.0:0.0 . 127 Q14416 GRM2_HUMAN V 127 ENSP00000378492:A127V;ENSP00000408906:A127V ENSP00000296479:A127V A + 2 0 GRM2 51718419 1.000000 0.71417 1.000000 0.80357 0.758000 0.43043 6.026000 0.70873 2.555000 0.86185 0.655000 0.94253 GCG TCGA-HZ-8637-01A-11D-2396-08 GRM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346542.1 0 0 0 5 206 0 31 0 0 0 1 0 31 2 0 0 0 0 0 2 1 9.359187e-01 6 202 0 29 2 -3.730703 1 1 121292 2 29 1 0 1 1 1.845907 1 0.200000 1.850000 0.111111 0.220000 0.080000 0.450000 0.210000 0.243949 0.220000 0 0.140000 0.330000 EPHA3 2042 broad.mit.edu 37 3 89445093 89445093 + Missense_Mutation SNP G G C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr3:89445093G>C ENST00000336596.2 + 6 1638 c.1413G>C c.(1411-1413)gaG>gaC p.E471D EPHA3_ENST00000452448.2_Missense_Mutation_p.E471D|EPHA3_ENST00000494014.1_Missense_Mutation_p.E471D NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) TGGACTACGAGGTCAAATACT 0.448000 TSP Lung(6;0.00050) 0 SO:0001583 missense ENST00000336596.2 0 1 hg19 CCDS2922.1 . . . . . . . . . . G 18.65 3.668961 0.67814 . . ENSG00000044524 ENST00000336596;ENST00000452448;ENST00000494014 T;T;T 0.59083 0.29;0.29;0.29 5.96 4.18 0.49190 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.70228 0.3200 M 0.64260 1.97 0.58432 D 0.999992 D;D 0.71674 0.997;0.998 D;D 0.79108 0.992;0.971 T 0.68758 -0.5324 9 . . . . 10.9314 0.47220 0.1937:0.0:0.8063:0.0 . 471;471 P29320;P29320-2 EPHA3_HUMAN;. D 471 ENSP00000337451:E471D;ENSP00000399926:E471D;ENSP00000419190:E471D . E + 3 2 EPHA3 89527783 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.525000 0.53502 0.863000 0.35553 0.655000 0.94253 GAG TCGA-HZ-8637-01A-11D-2396-08 EPHA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352995.1 0 0 0 10 1038 0 250 0 6.004571e-02 0 37 0 250 2 0 0 0 0 0 2 1 9.967402e-01 10 1029 0 248 2 -2.619468 1 1 0 0 1 1 2 3 2.097673 0 0.200000 1.850000 0.269406 0.100000 0.040000 1.000000 0.110000 0.148035 0.100000 0 0.070000 0.160000 SNX2 6643 broad.mit.edu 37 5 122152644 122152644 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr5:122152644G>A ENST00000379516.2 + 9 941 c.833G>A c.(832-834)gGa>gAa p.G278E SNX2_ENST00000514949.1_Missense_Mutation_p.G161E|SNX2_ENST00000510372.1_3'UTR NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) GCTCTGAGTGGAGCAGGAATA 0.443000 0 SO:0001583 missense ENST00000379516.2 0 1 hg19 CCDS34217.1 . . . . . . . . . . G 26.9 4.778916 0.90195 . . ENSG00000205302 ENST00000379516;ENST00000514949 T;T 0.27104 1.74;1.69 5.93 5.93 0.95920 . 0.161709 0.56097 D 0.000027 T 0.43478 0.1249 M 0.87180 2.865 0.80722 D 1 B 0.24920 0.114 B 0.28916 0.096 T 0.44205 -0.9343 10 0.87932 D 0 -20.0384 20.3334 0.98727 0.0:0.0:1.0:0.0 . 278 O60749 SNX2_HUMAN E 278;161 ENSP00000368831:G278E;ENSP00000421663:G161E ENSP00000368831:G278E G + 2 0 SNX2 122180543 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 9.688000 0.98670 2.818000 0.97014 0.591000 0.81541 GGA TCGA-HZ-8637-01A-11D-2396-08 SNX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371392.1 0 0 0 6 208 0 65 1 9.936445e-01 6 336 0 65 2 0 0 0 0 0 2 1 9.640672e-01 6 205 0 65 2 -2.989720 1 1 0 0 1 0 0 0 1.892832 1 0.200000 1.850000 0.139785 0.270000 0.110000 0.520000 0.260000 0.292762 0.270000 0 0.180000 0.390000 POU4F3 5459 broad.mit.edu 37 5 145719395 145719395 + Silent SNP G G A rs145372405 byFrequency TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr5:145719395G>A ENST00000230732.4 + 2 494 c.405G>A c.(403-405)ccG>ccA p.P135P CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGGCGCTCCGGAACACTCGG 0.687000 0 SO:0001819 synonymous_variant ENST00000230732.4 1 1 hg19 CCDS4281.1 TCGA-HZ-8637-01A-11D-2396-08 POU4F3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251887.2 1 0 0 33 323 1 65 0 0 0 1 65 2 0 0 0 0 0 2 1 9.892387e-01 33 320 1 65 18 -3.221884 1 1 121376 3 35 1 0 0 0 1.892832 1 0.200000 1.850000 0.139785 0.850000 0.600000 1.000000 1.000000 0.852920 0.850000 1 0.720000 1.000000 TCERG1 10915 broad.mit.edu 37 5 145826931 145826931 + Missense_Mutation SNP G G T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr5:145826931G>T ENST00000296702.5 + 1 57 c.19G>T c.(19-21)Gac>Tac p.D7Y TCERG1_ENST00000394421.2_Missense_Mutation_p.D7Y NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGTGGCGGGGACGGGGGCGA 0.617000 OREG0016896 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000296702.5 0 1 hg19 CCDS4282.1 . . . . . . . . . . G 15.96 2.985832 0.53934 . . ENSG00000113649 ENST00000296702;ENST00000394421 T;T 0.25414 1.8;1.8 5.03 5.03 0.67393 . 0.231983 0.38837 N 0.001560 T 0.19685 0.0473 N 0.14661 0.345 0.35204 D 0.774513 P;P;P 0.50943 0.94;0.902;0.842 B;P;B 0.47981 0.36;0.563;0.36 T 0.12116 -1.0560 10 0.72032 D 0.01 -11.5435 9.5825 0.39497 0.0931:0.0:0.9069:0.0 . 7;7;7 B7Z921;O14776-2;O14776 .;.;TCRG1_HUMAN Y 7 ENSP00000296702:D7Y;ENSP00000377943:D7Y ENSP00000296702:D7Y D + 1 0 TCERG1 145807124 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.332000 0.52083 2.782000 0.95742 0.655000 0.94253 GAC TCGA-HZ-8637-01A-11D-2396-08 TCERG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251886.1 0 0 0 7 121 0 31 1 4.270574e-01 6 18 0 31 2 0 0 0 0 0 2 1 9.667932e-01 6 102 0 27 2 -11.214320 1 1 121338 1 26 1 0 0 0 1.892832 1 0.200000 1.850000 0.139785 0.510000 0.230000 0.920000 0.480000 0.543181 0.510000 0 0.350000 0.720000 IRX4 50805 broad.mit.edu 37 5 1879903 1879903 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr5:1879903G>A ENST00000505790.1 - 5 907 c.451C>T c.(451-453)Cgc>Tgc p.R151C IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.R151C|IRX4_ENST00000513692.1_Missense_Mutation_p.R151C NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 10 GTGGTCTCGCGCGTGGCGTTC 0.637000 0 SO:0001583 missense ENST00000505790.1 1 1 hg19 CCDS3867.1 . . . . . . . . . . G 24.2 4.509935 0.85282 . . ENSG00000113430 ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126 D;D;D;T 0.84370 -1.84;-1.84;-1.84;-0.39 4.55 3.64 0.41730 Homeodomain-related (1);Homeobox (2);Homeodomain-like (1); 0.000000 0.85682 D 0.000000 D 0.92573 0.7641 M 0.89478 3.035 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 D 0.93692 0.7008 10 0.87932 D 0 -27.2035 12.7693 0.57410 0.0:0.0:0.8352:0.1647 . 151 P78413 IRX4_HUMAN C 151;151;151;177 ENSP00000231357:R151C;ENSP00000423161:R151C;ENSP00000424235:R151C;ENSP00000421772:R177C ENSP00000231357:R151C R - 1 0 IRX4 1932903 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.297000 0.59061 2.067000 0.61834 0.462000 0.41574 CGC TCGA-HZ-8637-01A-11D-2396-08 IRX4-004 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365500.1 1 0 1 68 426 0 109 0 0 0 0 109 2 0 0 0 0 0 2 1 1 69 418 0 107 2 -3.318871 1 1 0 0 1 2 2 4 2.182973 1 0.200000 1.850000 0.257885 0.990000 0.990000 1.000000 1.000000 0.999985 0.990000 1 0.990000 1.000000 AHRR 57491 broad.mit.edu 37 5 424055 424055 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr5:424055G>A ENST00000505113.1 + 7 727 c.683G>A c.(682-684)cGt>cAt p.R228H AHRR_ENST00000316418.5_Missense_Mutation_p.R228H|AHRR_ENST00000512529.1_Missense_Mutation_p.R74H|AHRR_ENST00000506456.1_Missense_Mutation_p.R84H NM_001242412.1 NP_001229341.1 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TTCATCTGCCGTGTGCGCTGC 0.662000 0 SO:0001583 missense ENST00000505113.1 1 1 hg19 CCDS56355.1 . . . . . . . . . . G 27.6 4.841778 0.91197 . . ENSG00000063438 ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456 T;T;T;T 0.72615 0.56;0.48;-0.57;-0.67 3.96 3.96 0.45880 . 0.121518 0.56097 D 0.000027 D 0.85444 0.5698 M 0.89095 3.005 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.998;0.987;0.998 D 0.88474 0.3064 10 0.87932 D 0 . 13.4727 0.61290 0.0:0.0:1.0:0.0 . 84;228;228 D6RE68;A9YTQ3;A9YTQ3-2 .;AHRR_HUMAN;. H 228;228;74;84 ENSP00000424601:R228H;ENSP00000323816:R228H;ENSP00000424880:R74H;ENSP00000426932:R84H ENSP00000323816:R228H R + 2 0 AHRR 477055 1.000000 0.71417 0.987000 0.45799 0.900000 0.52787 8.699000 0.91316 1.749000 0.51849 0.491000 0.48974 CGT TCGA-HZ-8637-01A-11D-2396-08 AHRR-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000367720.1 0 0 0 17 497 1 102 0 0 0 1 102 2 0 0 0 0 0 2 1 5.552867e-01 17 492 1 101 17 -3.616047 1 1 0 0 1 2 2 4 2.182973 1 0.200000 1.850000 0.257885 0.390000 0.220000 1.000000 0.360000 0.518111 0.390000 0 0.290000 1.000000 DMGDH 29958 broad.mit.edu 37 5 78325780 78325780 + Silent SNP A A C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr5:78325780A>C ENST00000255189.3 - 11 1789 c.1761T>G c.(1759-1761)tcT>tcG p.S587S DMGDH_ENST00000540686.1_Silent_p.S207S|DMGDH_ENST00000380311.4_Silent_p.S386S NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) ACTCCCCAGGAGATTGGTGAG 0.353000 0 SO:0001819 synonymous_variant ENST00000255189.3 0 1 hg19 CCDS4044.1 TCGA-HZ-8637-01A-11D-2396-08 DMGDH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226963.3 0 0 0 6 251 0 58 0 2.551158e-02 0 9 0 58 2 0 0 0 0 0 2 1 9.650622e-01 6 250 0 58 2 -3.148837 1 1 0 0 1 0 1 1 1.761026 1 0.200000 1.850000 0.111111 0.210000 0.090000 0.420000 0.200000 0.235696 0.210000 0 0.140000 0.320000 PTPRZ1 5803 broad.mit.edu 37 7 121694078 121694078 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr7:121694078G>A ENST00000393386.2 + 26 6778 c.6367G>A c.(6367-6369)Gat>Aat p.D2123N PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D1256N NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 106 TATGATTCCTGATGGCCAAAA 0.428000 0 SO:0001583 missense ENST00000393386.2 1 1 hg19 CCDS34740.1 . . . . . . . . . . G 16.11 3.029859 0.54790 . . ENSG00000106278 ENST00000393386;ENST00000449182 T;T 0.11063 2.81;2.81 5.39 4.5 0.54988 Protein-tyrosine phosphatase, receptor/non-receptor type (3); 0.077127 0.53938 D 0.000057 T 0.20659 0.0497 L 0.31371 0.925 0.53688 D 0.999979 B;P;P 0.46987 0.449;0.888;0.775 B;P;P 0.60236 0.202;0.871;0.697 T 0.01413 -1.1361 10 0.62326 D 0.03 . 16.0827 0.81014 0.0:0.1344:0.8656:0.0 . 1262;1256;2123 P23471-2;C9JFM0;P23471 .;.;PTPRZ_HUMAN N 2123;1256 ENSP00000377047:D2123N;ENSP00000410000:D1256N ENSP00000377047:D2123N D + 1 0 PTPRZ1 121481314 1.000000 0.71417 0.996000 0.52242 0.004000 0.04260 9.788000 0.99064 1.251000 0.43983 -0.274000 0.10170 GAT TCGA-HZ-8637-01A-11D-2396-08 PTPRZ1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347288.1 1 0 0 61 637 0 171 0 9.324421e-02 1 5 0 171 2 0 0 0 0 0 2 1 1 61 628 0 170 2 -15.676860 1 1 0 0 1 1 2 3 2.043458 0 0.200000 1.850000 0.204771 0.880000 0.680000 1.000000 1.000000 0.882954 0.880000 1 0.770000 1.000000 HECW1 23072 broad.mit.edu 37 7 43351558 43351558 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr7:43351558C>T ENST00000395891.2 + 4 829 c.224C>T c.(223-225)tCg>tTg p.S75L HECW1_ENST00000453890.1_Missense_Mutation_p.S75L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 125 CTGGTCACCTCGGACAGCCGC 0.612000 0 SO:0001583 missense ENST00000395891.2 1 1 hg19 CCDS5469.2 . . . . . . . . . . C 35 5.425853 0.96131 0.0 1.18E-4 ENSG00000002746 ENST00000395891;ENST00000453890;ENST00000265522 T;T 0.35605 1.3;1.3 5.76 5.76 0.90799 . 0.129505 0.56097 D 0.000040 T 0.45135 0.1327 L 0.39147 1.195 0.80722 D 1 D;B;D 0.71674 0.998;0.017;0.978 P;B;B 0.51385 0.668;0.005;0.357 T 0.39143 -0.9628 10 0.87932 D 0 . 19.9521 0.97203 0.0:1.0:0.0:0.0 . 75;107;75 B4DH42;B3KR18;Q76N89 .;.;HECW1_HUMAN L 75;75;74 ENSP00000379228:S75L;ENSP00000407774:S75L ENSP00000265522:S74L S + 2 0 HECW1 43318083 1.000000 0.71417 0.989000 0.46669 0.988000 0.76386 5.920000 0.70017 2.708000 0.92522 0.655000 0.94253 TCG TCGA-HZ-8637-01A-11D-2396-08 HECW1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250893.2 0 0 1 49 377 1 84 0 0 0 1 84 2 0 0 0 1 0 0 2 1 9.999905e-01 49 374 1 84 17 -2.744763 1 1 121096 6 39 1 1 2 3 2.051170 0 0.200000 1.850000 0.206349 0.990000 0.870000 1.000000 1.000000 0.991008 0.990000 1 0.990000 1.000000 COL1A2 1278 broad.mit.edu 37 7 94050355 94050355 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr7:94050355G>A ENST00000297268.6 + 38 2801 c.2330G>A c.(2329-2331)cGt>cAt p.R777H NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 COL1A2/PLAG1(3) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCTGGAAGTCGTGGTGATGGA 0.423000 HNSCC(75;0.22) 0 SO:0001583 missense ENST00000297268.6 1 1 hg19 CCDS34682.1 . . . . . . . . . . G 28.9 4.962324 0.92791 . . ENSG00000164692 ENST00000297268;ENST00000545487 D 0.93811 -3.29 5.63 5.63 0.86233 . 0.000000 0.85682 D 0.000000 D 0.97377 0.9142 H 0.94542 3.55 0.58432 D 0.999999 D 0.76494 0.999 P 0.58013 0.831 D 0.97940 1.0325 10 0.87932 D 0 . 20.0609 0.97674 0.0:0.0:1.0:0.0 . 777 P08123 CO1A2_HUMAN H 777;778 ENSP00000297268:R777H ENSP00000297268:R777H R + 2 0 COL1A2 93888291 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 6.330000 0.72925 2.824000 0.97209 0.655000 0.94253 CGT TCGA-HZ-8637-01A-11D-2396-08 COL1A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000309045.2 0 0 0 27 354 1 124 0 1 2 5119 1 124 101 0 0 0 0 0 2 1 9.957153e-01 27 351 1 123 12 -7.825306 1 1 121412 2 35 1 1 2 3 2.044574 0 0.200000 1.850000 0.205561 0.720000 0.480000 1.000000 0.700000 0.742178 0.720000 0 0.590000 0.890000 RNF19A 25897 broad.mit.edu 37 8 101299991 101299991 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr8:101299991G>A ENST00000519449.1 - 3 728 c.412C>T c.(412-414)Cgg>Tgg p.R138W RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TTAGAATGCCGCAAAAGGCAC 0.373000 0 SO:0001583 missense ENST00000519449.1 0 1 hg19 CCDS6286.1 . . . . . . . . . . G 21.4 4.139684 0.77775 . . ENSG00000034677 ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167 D;D 0.84146 -1.81;-1.81 5.57 3.77 0.43336 Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2); 0.056803 0.64402 D 0.000001 D 0.88123 0.6352 M 0.76002 2.32 0.80722 D 1 D 0.63880 0.993 P 0.53490 0.727 D 0.87527 0.2450 10 0.66056 D 0.02 . 10.4328 0.44417 0.07:0.0:0.7955:0.1345 . 138 Q9NV58 RN19A_HUMAN W 138 ENSP00000428968:R138W;ENSP00000342667:R138W ENSP00000342667:R138W R - 1 2 RNF19A 101369167 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.654000 0.67974 0.707000 0.31934 -0.142000 0.14014 CGG TCGA-HZ-8637-01A-11D-2396-08 RNF19A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380004.1 0 0 0 6 873 1 210 0 1.985626e-02 0 114 1 210 4 0 0 0 0 0 2 0 3.743014e-02 6 870 1 209 15 -1.799617 0 1 121412 5 39 1 2 2 4 2.186960 1 0.200000 1.850000 0.259259 0.090000 0.020000 1.000000 0.080000 0.298077 0.090000 0 0.050000 1.000000 KCNU1 157855 broad.mit.edu 37 8 36788639 36788639 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr8:36788639C>T ENST00000399881.3 + 25 2944 c.2907C>T c.(2905-2907)caC>caT p.H969H KCNU1_ENST00000518904.1_3'UTR NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 p.H969H(2) 57 TGTCCTTACACGAAACCATTT 0.418000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000399881.3 1 1 hg19 CCDS55220.1 TCGA-HZ-8637-01A-11D-2396-08 KCNU1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376631.1 1 0 0 54 598 0 183 0 0 0 0 183 2 0 0 0 0 0 2 1 1 55 591 0 182 2 -13.638120 1 1 120820 1 38 1 1 2 3 2.057392 0 0.200000 1.850000 0.207921 0.840000 0.640000 1.000000 1.000000 0.852768 0.840000 0 0.730000 1.000000 ST18 9705 broad.mit.edu 37 8 53062293 53062293 + Splice_Site SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr8:53062293T>C ENST00000276480.7 - 16 2734 c.2051A>G c.(2050-2052)gAg>gGg p.E684G RP11-26M5.3_ENST00000520496.1_RNA NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18, zinc finger 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AAACAATACCTCTTTCTCCTC 0.418000 0 SO:0001630 splice_region_variant ENST00000276480.7 1 0 hg19 CCDS6149.1 . . . . . . . . . . T 22.2 4.256218 0.80246 . . ENSG00000147488 ENST00000276480 T 0.53857 0.6 5.53 5.53 0.82687 Myelin transcription factor 1 (1); 0.146632 0.64402 D 0.000011 T 0.72819 0.3508 M 0.79475 2.455 0.80722 D 1 D 0.89917 1.0 D 0.75484 0.986 T 0.75082 -0.3443 10 0.49607 T 0.09 -25.523 15.6592 0.77169 0.0:0.0:0.0:1.0 . 684 O60284 ST18_HUMAN G 684 ENSP00000276480:E684G ENSP00000276480:E684G E - 2 0 ST18 53224846 1.000000 0.71417 1.000000 0.80357 0.787000 0.44495 5.945000 0.70226 2.110000 0.64415 0.377000 0.23210 GAG TCGA-HZ-8637-01A-11D-2396-08 ST18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377867.1 1 0 1 32 221 0 68 0 4.688265e-01 0 12 0 68 2 0 0 0 0 0 2 1 1 32 220 0 68 2 -14.571590 1 1 0 0 1 2 2 4 2.186960 1 0.200000 1.850000 0.259259 0.990000 0.980000 1.000000 1.000000 0.998122 0.990000 1 0.990000 1.000000 ZNF462 58499 broad.mit.edu 37 9 109686870 109686870 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr9:109686870G>A ENST00000277225.5 + 3 966 c.677G>A c.(676-678)cGc>cAc p.R226H ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.R226H Q96JM2 ZN462_HUMAN zinc finger protein 462 119 GTTGTGGAGCGCAGCATCTTA 0.582000 0 SO:0001583 missense ENST00000277225.5 0 1 hg19 CCDS35096.1 . . . . . . . . . . G 16.63 3.176741 0.57692 0.0 1.16E-4 ENSG00000148143 ENST00000277225;ENST00000457913 T;T 0.08102 3.13;3.58 5.82 5.82 0.92795 . 0.117145 0.64402 D 0.000013 T 0.19805 0.0476 L 0.29908 0.895 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.71414 0.973;0.94 T 0.01249 -1.1406 9 . . . . 20.0893 0.97812 0.0:0.0:1.0:0.0 . 226;226 Q96JM2-3;Q96JM2 .;ZN462_HUMAN H 226 ENSP00000277225:R226H;ENSP00000414570:R226H . R + 2 0 ZNF462 108726691 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.515000 0.67049 2.761000 0.94854 0.655000 0.94253 CGC TCGA-HZ-8637-01A-11D-2396-08 ZNF462-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000053532.2 0 0 0 6 365 0 84 0 7.781872e-03 0 7 0 84 2 0 0 0 0 0 2 1 9.640962e-01 7 360 0 83 2 -5.984889 1 1 121412 2 35 1 0 1 1 1.854684 1 0.200000 1.850000 0.111111 0.150000 0.060000 0.290000 0.140000 0.165262 0.150000 0 0.090000 0.220000 IFNA7 3444 broad.mit.edu 37 9 21201878 21201878 + Nonsense_Mutation SNP G G T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr9:21201878G>T ENST00000239347.3 - 1 326 c.287C>A c.(286-288)tCa>tAa p.S96* NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 12 AGCAGCAGATGAGTCCTCTGT 0.493000 0 SO:0001587 stop_gained ENST00000239347.3 0 1 hg19 CCDS34995.1 . . . . . . . . . . G 13.87 2.365583 0.41902 . . ENSG00000214042 ENST00000239347 . . . 3.56 0.28 0.15682 . 0.828141 0.10926 N 0.618941 . . . . . . 0.58432 D 0.999999 . . . . . . . . . . 0.02654 T 1 . 8.2755 0.31871 0.0:0.4864:0.3482:0.1654 . . . . X 96 . ENSP00000239347:S96X S - 2 0 IFNA7 21191878 0.000000 0.05858 0.000000 0.03702 0.135000 0.20990 0.117000 0.15583 -0.191000 0.10448 0.586000 0.80456 TCA TCGA-HZ-8637-01A-11D-2396-08 IFNA7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051891.1 0 0 0 9 653 0 155 0 0 0 0 155 2 0 0 0 0 0 2 1 9.805121e-01 8 488 0 219 2 -2.922052 1 1 0 0 1 0 1 1 1.845158 1 0.200000 1.850000 0.111111 0.120000 0.050000 0.220000 0.120000 0.133899 0.120000 0 0.080000 0.170000 PRUNE2 158471 broad.mit.edu 37 9 79318999 79318999 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr9:79318999T>C ENST00000376718.3 - 9 7653 c.7530A>G c.(7528-7530)atA>atG p.I2510M PRUNE2_ENST00000428286.1_Missense_Mutation_p.I2151M NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 16 CCAATTCTGATATTTCCTTGC 0.363000 0 SO:0001583 missense ENST00000376718.3 0 1 hg19 CCDS47982.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. T|T 8.506|8.506 0.865365|0.865365 0.17250|0.17250 .|. .|. ENSG00000106772|ENSG00000106772 ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088 T;T|T 0.46451|0.43294 0.88;0.87|0.95 5.76|5.76 -4.85|-4.85 0.03142|0.03142 .|. 0.937666|0.937666 0.08922|0.08922 N|N 0.874209|0.874209 T|T 0.24624|0.24624 0.0597|0.0597 L|L 0.40543|0.40543 1.245|1.245 0.09310|0.09310 N|N 1|1 B|. 0.25486|. 0.127|. B|. 0.19148|. 0.024|. T|T 0.33445|0.33445 -0.9868|-0.9868 10|8 0.66056|0.17832 D|T 0.02|0.49 -0.3915|-0.3915 0.7931|0.7931 0.01061|0.01061 0.2162:0.3068:0.1812:0.2958|0.2162:0.3068:0.1812:0.2958 .|. 2510|. Q8WUY3|. PRUN2_HUMAN|. M|V 2510;2151;2509|1832 ENSP00000365908:I2510M;ENSP00000397425:I2151M|ENSP00000389706:I1832V ENSP00000365908:I2510M|ENSP00000389706:I1832V I|I -|- 3|1 3|0 PRUNE2|PRUNE2 78508819|78508819 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.769000|0.769000 0.43574|0.43574 -2.307000|-2.307000 0.01132|0.01132 -0.425000|-0.425000 0.07371|0.07371 0.533000|0.533000 0.62120|0.62120 ATA|ATC TCGA-HZ-8637-01A-11D-2396-08 PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052730.2 0 0 0 5 633 0 153 0 2.182250e-02 0 23 0 153 2 0 0 0 0 0 2 1 9.353993e-01 5 624 0 151 2 -3.206609 1 1 0 0 1 0 1 1 1.854684 1 0.200000 1.850000 0.111111 0.070000 0.020000 0.150000 0.070000 0.083311 0.070000 0 0.040000 0.110000 NTRK2 4915 broad.mit.edu 37 9 87338511 87338511 + Missense_Mutation SNP G G A rs117250170 by1000genomes TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chr9:87338511G>A ENST00000323115.4 + 6 960 c.607G>A c.(607-609)Gca>Aca p.A203T NTRK2_ENST00000376208.1_Missense_Mutation_p.A203T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A47T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A203T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A203T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A203T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A203T|NTRK2_ENST00000277120.3_Missense_Mutation_p.A203T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A203T Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 46 Amitriptyline(DB00321) AAATCTGGCCGCACCTAACCT 0.398000 TSP Lung(25;0.17) 0 SO:0001583 missense ENST00000323115.4 0 1 hg19 CCDS35050.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 10.40 1.340322 0.24339 2.27E-4 6.98E-4 ENSG00000148053 ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866 T;T;T;T;T;T;T;T;T 0.38887 1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11 5.64 4.52 0.55395 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.177702 0.49916 D 0.000137 T 0.12050 0.0293 N 0.01438 -0.865 0.27631 N 0.948042 B;B;B;B;B;B;B;B 0.29936 0.029;0.013;0.013;0.016;0.001;0.005;0.262;0.013 B;B;B;B;B;B;B;B 0.17722 0.019;0.009;0.009;0.016;0.004;0.004;0.019;0.009 T 0.13656 -1.0501 10 0.15952 T 0.53 . 4.7532 0.13071 0.2675:0.0:0.7325:0.0 . 47;203;203;203;203;203;249;203 B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2 .;.;.;.;NTRK2_HUMAN;.;.;. T 203;203;203;203;203;203;203;203;47 ENSP00000365387:A203T;ENSP00000365386:A203T;ENSP00000379221:A203T;ENSP00000365381:A203T;ENSP00000306167:A203T;ENSP00000277120:A203T;ENSP00000314586:A203T;ENSP00000352906:A203T;ENSP00000379207:A47T ENSP00000277120:A203T A + 1 0 NTRK2 86528331 0.010000 0.17322 0.901000 0.35422 0.850000 0.48378 1.337000 0.33862 2.807000 0.96579 0.591000 0.81541 GCA TCGA-HZ-8637-01A-11D-2396-08 NTRK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052882.1 0 0 0 5 395 0 97 0 7.906663e-02 0 30 0 97 2 0 0 0 0 0 2 1 9.366725e-01 5 392 0 97 2 -2.579551 1 1 121412 4 48 1 0 1 1 1.854684 1 0.200000 1.850000 0.111111 0.110000 0.040000 0.240000 0.110000 0.131641 0.110000 0 0.070000 0.180000 DRP2 1821 broad.mit.edu 37 X 100505940 100505940 + Missense_Mutation SNP T T C TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:100505940T>C ENST00000395209.3 + 16 2260 c.1733T>C c.(1732-1734)tTc>tCc p.F578S DRP2_ENST00000541709.1_Missense_Mutation_p.F500S|DRP2_ENST00000538510.1_Missense_Mutation_p.F578S|DRP2_ENST00000402866.1_Missense_Mutation_p.F578S NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 31 GCATCCCAGTTCCTGGAGTGG 0.542000 0 SO:0001583 missense ENST00000395209.3 1 1 hg19 CCDS14480.2 . . . . . . . . . . T 28.0 4.885168 0.91814 . . ENSG00000102385 ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510 D;D;D;D 0.82711 -1.64;-1.64;-1.64;-1.64 6.06 6.06 0.98353 EF-hand domain, type 2 (1); 0.000000 0.85682 D 0.000000 D 0.92430 0.7597 M 0.88842 2.985 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.93684 0.7001 10 0.87932 D 0 -16.046 15.4998 0.75687 0.0:0.0:0.0:1.0 . 578 Q13474 DRP2_HUMAN S 578;578;500;578 ENSP00000385038:F578S;ENSP00000378635:F578S;ENSP00000444752:F500S;ENSP00000441051:F578S ENSP00000378635:F578S F + 2 0 DRP2 100392596 1.000000 0.71417 1.000000 0.80357 0.861000 0.49209 8.040000 0.89188 2.044000 0.60594 0.486000 0.48141 TTC TCGA-HZ-8637-01A-11D-2396-08 DRP2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057522.3 0 0 0 33 1204 0 237 0 0 0 0 237 2 0 0 0 0 0 2 1 1 33 1191 0 234 2 -19.999860 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.260000 0.180000 0.360000 0.260000 0.273514 0.260000 0 0.220000 0.320000 IRS4 8471 broad.mit.edu 37 X 107979420 107979420 + Missense_Mutation SNP C C G TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:107979420C>G ENST00000372129.2 - 1 231 c.155G>C c.(154-156)gGa>gCa p.G52A RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 78 CCACATGGCTCCCGGACAAGA 0.672000 0 SO:0001583 missense ENST00000372129.2 1 1 hg19 CCDS14544.1 . . . . . . . . . . c 14.15 2.450387 0.43531 . . ENSG00000133124 ENST00000372129 T 0.57436 0.4 3.0 2.13 0.27403 . 0.434509 0.17021 N 0.190111 T 0.31979 0.0814 N 0.14661 0.345 0.26220 N 0.979178 B 0.18461 0.028 B 0.12156 0.007 T 0.22243 -1.0222 10 0.56958 D 0.05 -3.0499 7.3287 0.26569 0.0:0.8609:0.0:0.1391 . 52 O14654 IRS4_HUMAN A 52 ENSP00000361202:G52A ENSP00000361202:G52A G - 2 0 IRS4 107866076 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 2.426000 0.44731 0.679000 0.31345 0.431000 0.28591 GGA TCGA-HZ-8637-01A-11D-2396-08 IRS4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057879.1 1 0 0 54 565 0 89 0 0 0 0 89 2 0 0 0 1 0 0 2 1 1 52 560 0 88 2 -20.000000 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.860000 0.660000 1.000000 1.000000 0.870528 0.860000 1 0.760000 0.990000 KCNE1L 23630 broad.mit.edu 37 X 108868206 108868206 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:108868206C>T ENST00000372101.2 - 1 187 c.44G>A c.(43-45)cGc>cAc p.R15H NM_012282.2 NP_036414.1 Q9UJ90 KCE1L_HUMAN KCNE1-like 6 GAGCAACAGGCGGCTCAGAAG 0.682000 0 SO:0001583 missense ENST00000372101.2 1 1 hg19 CCDS14547.1 . . . . . . . . . . C 15.69 2.906858 0.52333 . . ENSG00000176076 ENST00000372101 T 0.71817 -0.6 4.74 1.66 0.24008 . 0.242758 0.27437 N 0.019376 T 0.41880 0.1178 N 0.08118 0 0.28357 N 0.920618 B 0.13145 0.007 B 0.10450 0.005 T 0.21861 -1.0233 10 0.48119 T 0.1 -25.7468 0.7581 0.01002 0.1549:0.2966:0.2664:0.2821 . 15 Q9UJ90 KCE1L_HUMAN H 15 ENSP00000361173:R15H ENSP00000361173:R15H R - 2 0 KCNE1L 108754862 0.985000 0.35326 0.988000 0.46212 0.851000 0.48451 0.065000 0.14466 0.476000 0.27440 0.523000 0.50628 CGC TCGA-HZ-8637-01A-11D-2396-08 KCNE1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057892.1 1 0 0 7 177 0 43 0 0 0 0 43 2 0 0 0 0 0 2 1 8.943698e-01 4 100 0 23 2 -10.141520 1 1 120734 1 24 1 0 1 1 0.200000 1.850000 0.200000 0.390000 0.170000 0.720000 0.380000 0.420727 0.390000 0 0.270000 0.560000 CAPN6 827 broad.mit.edu 37 X 110494868 110494868 + Missense_Mutation SNP G G T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:110494868G>T ENST00000324068.1 - 6 969 c.802C>A c.(802-804)Ctt>Att p.L268I CAPN6_ENST00000541758.1_Missense_Mutation_p.L13I NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 47 ACTTCCACAAGTCTCTCTCCA 0.488000 0 SO:0001583 missense ENST00000324068.1 0 1 hg19 CCDS14555.1 . . . . . . . . . . G 21.0 4.074557 0.76415 . . ENSG00000077274 ENST00000324068;ENST00000541758 D;D 0.90444 -2.67;-2.28 6.17 5.31 0.75309 Peptidase C2, calpain, catalytic domain (3); 0.072434 0.56097 D 0.000033 D 0.92496 0.7617 L 0.58428 1.81 0.47276 D 0.999375 D 0.60575 0.988 P 0.61722 0.893 D 0.91917 0.5544 10 0.52906 T 0.07 . 9.6606 0.39952 0.0718:0.0:0.7883:0.1398 . 268 Q9Y6Q1 CAN6_HUMAN I 268;13 ENSP00000317214:L268I;ENSP00000441736:L13I ENSP00000317214:L268I L - 1 0 CAPN6 110381524 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.051000 0.49885 1.355000 0.45865 0.600000 0.82982 CTT TCGA-HZ-8637-01A-11D-2396-08 CAPN6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057922.1 0 0 0 29 3217 0 701 0 8.630114e-04 1 4 0 701 2 0 0 0 0 0 2 1 1 30 3196 0 698 2 -3.318793 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.080000 0.050000 0.130000 0.090000 0.092239 0.080000 0 0.060000 0.110000 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:112058796C>T ENST00000524145.1 - 3 1256 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q Q4VCS5 AMOT_HUMAN angiomotin p.Q394Q(1) 43 gctgctgctgctgttgttggt 0.582000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000524145.1 0 1 hg19 CCDS48154.1 TCGA-HZ-8637-01A-11D-2396-08 AMOT-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000378570.1 0 0 0 7 437 0 68 0 1.171922e-02 0 9 0 68 2 0 3.611521e-04 0 2 0 0 2 1 9.840353e-01 4 463 0 72 2 -3.110143 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.160000 0.070000 0.310000 0.160000 0.177743 0.160000 0 0.110000 0.240000 NDUFA1 4694 broad.mit.edu 37 X 119005896 119005896 + Missense_Mutation SNP G G A rs104894884 TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:119005896G>A ENST00000371437.4 + 1 447 c.22G>A c.(22-24)Gga>Aga p.G8R RNF113A_ENST00000371442.2_5'Flank NM_004541.3 NP_004532.1 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 5 GATTCTCCCCGGACTCTCCGT 0.582000 0 GRCh37 CM070206 NDUFA1 M rs104894884 SO:0001583 missense ENST00000371437.4 1 1 hg19 CCDS14590.1 . . . . . . . . . . G 14.10 2.436087 0.43224 . . ENSG00000125356 ENST00000371437 T 0.78481 -1.18 5.45 5.45 0.79879 . 0.000000 0.85682 D 0.000000 D 0.86810 0.6022 . . . 0.53688 D 0.999979 D 0.89917 1.0 D 0.97110 1.0 D 0.86588 0.1858 9 0.42905 T 0.14 -17.2435 13.6857 0.62515 0.0:0.0:1.0:0.0 . 8 O15239 NDUA1_HUMAN R 8 ENSP00000360492:G8R ENSP00000360492:G8R G + 1 0 NDUFA1 118889924 1.000000 0.71417 0.749000 0.31150 0.584000 0.36387 3.502000 0.53332 2.300000 0.77407 0.600000 0.82982 GGA TCGA-HZ-8637-01A-11D-2396-08 NDUFA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058080.1 0 0 0 34 1464 0 327 0 1 1 2432 0 327 2 0 0 0 0 0 2 1 9.944770e-01 34 1455 1 327 17 -2.578158 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.220000 0.150000 0.310000 0.220000 0.232695 0.220000 0 0.180000 0.270000 TFDP3 51270 broad.mit.edu 37 X 132351106 132351106 + Silent SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:132351106G>A ENST00000310125.4 - 1 1270 c.1182C>T c.(1180-1182)aaC>aaT p.N394N NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 19 Acute lymphoblastic leukemia(192;0.000127) GGTCGTCATCGTTGTTGTCCT 0.498000 0 SO:0001819 synonymous_variant ENST00000310125.4 1 1 hg19 CCDS14636.2 TCGA-HZ-8637-01A-11D-2396-08 TFDP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058337.1 1 0 1 186 773 0 209 0 0 0 0 209 2 0 0 0 0 0 2 1 1 182 765 0 207 2 -20.000000 1 1 121400 10 42 1 0 1 1 0.200000 1.850000 0.200000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 PDZD4 57595 broad.mit.edu 37 X 153069953 153069953 + Missense_Mutation SNP C C T TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:153069953C>T ENST00000164640.4 - 8 1356 c.1165G>A c.(1165-1167)Gtc>Atc p.V389I PDZD4_ENST00000393758.2_Missense_Mutation_p.V314I|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.V280I NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGCGGTTGACGTCCAGGGCG 0.632000 0 SO:0001583 missense ENST00000164640.4 1 1 hg19 CCDS14732.1 . . . . . . . . . . C 12.71 2.020509 0.35606 . . ENSG00000067840 ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474 T;T;T 0.04706 3.57;3.57;3.77 5.02 5.02 0.67125 . 0.000000 0.34338 U 0.004046 T 0.09291 0.0229 L 0.46157 1.445 0.43857 D 0.996456 D;P;D;D;D 0.60575 0.98;0.956;0.988;0.988;0.98 P;P;B;P;P 0.48488 0.579;0.475;0.38;0.539;0.579 T 0.15636 -1.0430 10 0.39692 T 0.17 -44.1464 16.1719 0.81822 0.0:1.0:0.0:0.0 . 280;395;389;314;293 B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9 .;.;PDZD4_HUMAN;.;. I 389;314;293;280 ENSP00000164640:V389I;ENSP00000377355:V314I;ENSP00000442033:V280I ENSP00000164640:V389I V - 1 0 PDZD4 152723147 0.830000 0.29337 0.989000 0.46669 0.807000 0.45602 2.646000 0.46630 2.069000 0.61940 0.436000 0.28706 GTC TCGA-HZ-8637-01A-11D-2396-08 PDZD4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000061013.3 1 0 0 18 349 0 75 0 2.185905e-01 0 17 0 75 2 0 0 0 0 0 2 1 9.999812e-01 18 344 0 74 2 -19.227920 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.490000 0.300000 0.730000 0.480000 0.509289 0.490000 0 0.390000 0.620000 DMD 1756 broad.mit.edu 37 X 32563424 32563424 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:32563424G>A ENST00000357033.4 - 17 2226 c.2020C>T c.(2020-2022)Cca>Tca p.P674S DMD_ENST00000288447.4_Missense_Mutation_p.P666S|DMD_ENST00000378677.2_Missense_Mutation_p.P670S NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTTAGTGATGGCTGAGTGGTG 0.463000 0 SO:0001583 missense ENST00000357033.4 1 1 hg19 CCDS14233.1 . . . . . . . . . . G 9.924 1.212886 0.22289 . . ENSG00000198947 ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447 T;T;T 0.71461 0.2;0.2;-0.57 5.64 4.69 0.59074 . 0.253065 0.20010 U 0.101151 T 0.56790 0.2009 L 0.29908 0.895 0.80722 D 1 B;B;B;B 0.20887 0.049;0.003;0.007;0.002 B;B;B;B 0.19666 0.026;0.015;0.003;0.007 T 0.51284 -0.8725 10 0.18710 T 0.47 . 12.1345 0.53964 0.0:0.0:0.6831:0.3169 . 666;666;674;670 Q4G0X0;P11532-4;P11532;E9PDN5 .;.;DMD_HUMAN;. S 666;670;674;674;551;666 ENSP00000367948:P670S;ENSP00000354923:P674S;ENSP00000288447:P666S ENSP00000288447:P666S P - 1 0 DMD 32473345 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 2.541000 0.45735 2.356000 0.79943 0.506000 0.49869 CCA TCGA-HZ-8637-01A-11D-2396-08 DMD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056182.2 0 0 0 12 375 0 92 0 3.506926e-03 0 3 0 92 2 0 0 0 0 0 2 1 9.991204e-01 12 373 0 92 2 -3.639479 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.310000 0.170000 0.510000 0.300000 0.330732 0.310000 0 0.230000 0.420000 TBX22 50945 broad.mit.edu 37 X 79279655 79279655 + Silent SNP A A G TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:79279655A>G ENST00000373294.5 + 3 478 c.450A>G c.(448-450)aaA>aaG p.K150K TBX22_ENST00000373296.3_Silent_p.K150K|TBX22_ENST00000442340.1_Silent_p.K30K|TBX22_ENST00000373291.1_Silent_p.K30K NM_016954.2 NP_058650.1 Q9Y458 TBX22_HUMAN T-box 22 65 TGGATTCCAAACGCTATAGGT 0.527000 0 SO:0001819 synonymous_variant ENST00000373294.5 1 1 hg19 CCDS14445.1 TCGA-HZ-8637-01A-11D-2396-08 TBX22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057334.1 1 0 1 101 439 0 125 0 0 0 0 125 2 0 0 0 0 0 2 1 1 100 436 0 125 2 -20.000000 1 1 0 0 1 0 1 1 0.200000 1.850000 0.200000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 SYTL4 94121 broad.mit.edu 37 X 99956515 99956515 + Missense_Mutation SNP G G A TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bc6ae6f-fb9e-42e1-b5b4-4a83cc60d88a 5aa2b147-56e6-46e5-829f-ba6ac30defb8 g.chrX:99956515G>A ENST00000372989.1 - 5 596 c.265C>T c.(265-267)Cgg>Tgg p.R89W SYTL4_ENST00000454200.2_Missense_Mutation_p.R89W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R89W|SYTL4_ENST00000372981.1_Missense_Mutation_p.R89W|SYTL4_ENST00000276141.6_Missense_Mutation_p.R89W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R89W NM_080737.2 NP_542775.2 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 27 """Insulin(DB00071)|Insulin Regular(DB00030)" CGGCAGTCCCGACACACCAGG 0.572000 0 SO:0001583 missense ENST00000372989.1 1 1 hg19 CCDS14472.1 . . . . . . . . . . G 15.73 2.920656 0.52653 . . ENSG00000102362 ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981 T;T;T;T;T;T 0.77877 -1.13;-1.13;-1.13;-1.13;-1.13;-1.13 5.25 4.39 0.52855 Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1); 0.262657 0.37530 N 0.002046 D 0.82356 0.5019 M 0.63843 1.955 0.29637 N 0.845039 D;D 0.76494 0.999;0.986 P;P 0.62382 0.901;0.487 T 0.77707 -0.2487 9 . . . -4.0888 8.1107 0.30914 0.0833:0.0:0.7602:0.1565 . 89;89 Q96C24-2;Q96C24 .;SYTL4_HUMAN W 89 ENSP00000362080:R89W;ENSP00000390252:R89W;ENSP00000403556:R89W;ENSP00000276141:R89W;ENSP00000263033:R89W;ENSP00000362072:R89W . R - 1 2 SYTL4 99843171 0.987000 0.35691 0.961000 0.40146 0.629000 0.37895 3.328000 0.52052 1.119000 0.41883 0.600000 0.82982 CGG TCGA-HZ-8637-01A-11D-2396-08 SYTL4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000057488.1 1 0 1 153 823 0 208 1 5.348295e-01 6 5 0 208 2 0 0 0 0 0 2 1 1 150 808 0 206 2 -2.966736 1 1 121410 1 47 1 0 1 1 0.200000 1.850000 0.200000 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000