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 SLC6A5 9152 broad.mit.edu 37 11 20676316 20676316 + Missense_Mutation SNP C C T rs141654146 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:20676316C>T ENST00000525748.1 + 16 2569 c.2296C>T c.(2296-2298)Cgc>Tgc p.R766C SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 63 Glycine(DB00145) AGCTCAACACCGCGGGGAGCG 0.542000 0 SO:0001583 missense ENST00000525748.1 1 1 hg19 CCDS7854.1 . . . . . . . . . . C 25.500000 4.640687 0.878590 2.27E-4 2.33E-4 ENSG00000165970 ENST00000525748 T 0.75938 -0.98 6.040000 6.040000 0.980380 . 0.000000 0.85682 D 0.000000 T 0.82144 0.4973 L 0.34521 1.04 0.807220 D 1.000000 D 0.89917 1.0 D 0.87578 0.998 T 0.82748 -0.0304 10 0.87932 D 0 . 20.594800 0.994390 0.0:1.0:0.0:0.0 . 766 Q9Y345 SC6A5_HUMAN C 766 ENSP00000434364:R766C ENSP00000434364:R766C R + 1 0 SLC6A5 20632892 1 0.714170 1 0.803570 0.983000 0.724000 5.645000 0.679090 2.873000 0.985350 0.563000 0.778840 CGC TCGA-F2-A44H-01A-11D-A26I-08 SLC6A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387497.2 0 0 0 24 643 0 93 0 0 0 0 93 2 0 0 0 0 0 2 1 1.000000 24 636 0 92 2 -2.652367 1 1 121412 8 44 1 0 1 1 1.800142 1 0.260000 1.820000 0.149425 0.230000 0.150000 0.340000 0.240000 0.247950 0.230000 0 0.190000 0.290000 RRP8 23378 broad.mit.edu 37 11 6622389 6622389 + Missense_Mutation SNP G G T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:6622389G>T ENST00000254605.6 - 3 1024 c.907C>A c.(907-909)Ctt>Att p.L303I RRP8_ENST00000534343.1_Intron|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000537806.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 13 CGCTGGCGAAGATCCCTGGCG 0.572000 0 SO:0001583 missense ENST00000254605.6 0 1 hg19 CCDS31411.1 . . . . . . . . . . G 15.120000 2.737955 0.490450 . . ENSG00000132275 ENST00000254605;ENST00000533907 T;T 0.53206 0.63;0.63 6.080000 4.990000 0.663350 . 0.059275 0.64402 D 0.000004 T 0.46151 0.1378 N 0.17922 0.545 0.807220 D 1.000000 B 0.26809 0.16 P 0.51918 0.684 T 0.37407 -0.9707 10 0.07644 T 0.81 -20.4274 9.775300 0.406140 0.0818:0.0:0.7743:0.144 . 303 O43159 RRP8_HUMAN I 303 ENSP00000254605:L303I;ENSP00000436246:L303I ENSP00000254605:L303I L - 1 0 RRP8 6578965 1 0.714170 1 0.803570 0.988000 0.763860 4.110000 0.578310 2.894000 0.992530 0.655000 0.942530 CTT TCGA-F2-A44H-01A-11D-A26I-08 RRP8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000384505.1 1 0 1 26 189 0 18 1 7.415646e-01 7 14 0 18 2 0 0 0 0 0 2 1 1.000000 26 186 0 18 2 -20.000000 1 1 0 0 1 0 1 1 1.800142 1 0.260000 1.820000 0.149425 0.780000 0.530000 0.980000 0.790000 0.781097 0.780000 0 0.650000 0.910000 FAT3 120114 broad.mit.edu 37 11 92569867 92569867 + Missense_Mutation SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr11:92569867C>T ENST00000298047.6 + 15 10239 c.10222C>T c.(10222-10224)Cgg>Tgg p.R3408W FAT3_ENST00000525166.1_Missense_Mutation_p.R3258W|FAT3_ENST00000409404.2_Missense_Mutation_p.R3408W Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGACCGGGAACGGGTAAGCTA 0.438000 TCGA Ovarian(4;0.039) 0 SO:0001583 missense ENST00000298047.6 1 0 hg19 . . . . . . . . . . C 17.880000 3.496552 0.641860 0.0 0.002555 ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000525166 T;T;T 0.01804 4.63;4.63;4.63 5.090000 5.090000 0.689990 . . . . . T 0.06371 0.0164 M 0.64404 1.975 0.807220 D 1.000000 D 0.71674 0.998 P 0.57009 0.811 T 0.05022 -1.0911 9 0.66056 D 0.02 . 13.097000 0.591970 0.1702:0.8298:0.0:0.0 . 3408 Q8TDW7-3 . W 3408;3408;3258 ENSP00000298047:R3408W;ENSP00000387040:R3408W;ENSP00000432586:R3258W ENSP00000298047:R3408W R + 1 2 FAT3 92209515 1 0.714170 1 0.803570 0.961000 0.630800 0.977000 0.294750 2.526000 0.851670 0.563000 0.778840 CGG TCGA-F2-A44H-01A-11D-A26I-08 FAT3-201 KNOWN basic protein_coding protein_coding 1 0 1 33 200 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 1.000000 33 199 0 27 2 -4.337061 1 1 120836 269 54 1 0 1 1 1.797776 1 0.260000 1.820000 0.151960 0.880000 0.650000 1.000000 1.000000 0.872276 0.880000 1 0.760000 0.980000 TBX3 6926 broad.mit.edu 37 12 115112388 115112388 + Missense_Mutation SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:115112388G>A ENST00000257566.3 - 7 1741 c.1352C>T c.(1351-1353)gCg>gTg p.A451V TBX3_ENST00000349155.2_Missense_Mutation_p.A431V NM_016569.3 NP_057653.3 O15119 TBX3_HUMAN T-box 3 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCGCTCCTCCGCGCCCAGGCC 0.751000 0 SO:0001583 missense ENST00000257566.3 0 1 hg19 CCDS9176.1 . . . . . . . . . . G 14.290000 2.490947 0.442490 . . ENSG00000135111 ENST00000349155;ENST00000257566;ENST00000361100 D;D 0.87103 -2.21;-2.2 5.140000 1.420000 0.224330 . 6.239900 0.01621 U 0.023007 T 0.75184 0.3815 N 0.22421 0.69 0.260060 N 0.982051 B;B 0.34349 0.45;0.043 B;B 0.23852 0.049;0.007 T 0.67094 -0.5757 10 0.17369 T 0.5 . 5.023400 0.143720 0.2845:0.2671:0.4484:0.0 . 431;451 O15119-2;O15119 .;TBX3_HUMAN V 431;451;451 ENSP00000257567:A431V;ENSP00000257566:A451V ENSP00000257566:A451V A - 2 0 TBX3 113596771 3.520000e-01 0.248950 7.490000e-01 0.311500 0.723000 0.414780 1.286000 0.332730 1.175000 0.428260 -0.191000 0.128290 GCG TCGA-F2-A44H-01A-11D-A26I-08 TBX3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000404947.2 0 0 0 6 65 0 10 0 2.861163e-02 0 3 0 10 2 0 0 0 0 0 2 1 0.965690 6 64 0 10 2 -13.977980 1 1 118710 1 23 1 0 0 0 2.011317 0 0.260000 1.820000 0.244281 0.650000 0.280000 1.000000 1.000000 0.673846 0.650000 0 0.440000 0.920000 MLF2 8079 broad.mit.edu 37 12 6858098 6858098 + Missense_Mutation SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr12:6858098G>A ENST00000203630.5 - 8 1254 c.610C>T c.(610-612)Cgg>Tgg p.R204W MLF2_ENST00000542154.1_Missense_Mutation_p.R204W|MLF2_ENST00000539187.1_Missense_Mutation_p.R204W|MLF2_ENST00000435120.1_Missense_Mutation_p.R204W|MLF2_ENST00000564181.1_5'Flank Q15773 MLF2_HUMAN myeloid leukemia factor 2 9 CGCTGCTGCCGGAATCGGGAG 0.687000 0 SO:0001583 missense ENST00000203630.5 0 1 hg19 CCDS8559.1 . . . . . . . . . . G 13.710000 2.316957 0.409960 . . ENSG00000089693 ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187 . . . 5.210000 2.180000 0.277750 . 0.153364 0.44688 D 0.000421 T 0.54127 0.1839 L 0.27053 0.805 0.497980 D 0.999828 D 0.89917 1.0 D 0.75020 0.985 T 0.53173 -0.8476 9 0.62326 D 0.03 . 7.905200 0.297570 0.0728:0.0:0.5051:0.4222 . 204 Q15773 MLF2_HUMAN W 204 . ENSP00000203630:R204W R - 1 2 MLF2 6728359 1 0.714170 9.890000e-01 0.466690 0.001000 0.015030 1.782000 0.386540 0.548000 0.289550 -0.218000 0.125430 CGG TCGA-F2-A44H-01A-11D-A26I-08 MLF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000400733.2 1 0 1 16 153 0 22 1 9.999997e-01 50 247 0 22 2 0 0 0 0 0 2 1 0.999936 16 149 0 22 2 -19.999250 1 1 0 0 1 0 0 0 2.003992 0 0.260000 1.820000 0.242269 0.710000 0.430000 1.000000 1.000000 0.727124 0.710000 0 0.560000 0.890000 MYH7 4625 broad.mit.edu 37 14 23885302 23885302 + Missense_Mutation SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr14:23885302G>C ENST00000355349.3 - 34 5026 c.4864C>G c.(4864-4866)Ctc>Gtc p.L1622V MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 137 all_cancers(95;2.54e-05) ATCTCATTGAGGTCTCCTTCC 0.607000 0 SO:0001583 missense ENST00000355349.3 1 1 hg19 CCDS9601.1 . . . . . . . . . . G 17.520000 3.409563 0.623990 . . ENSG00000092054 ENST00000355349;ENST00000544444 T 0.79454 -1.27 4.550000 4.550000 0.560140 Myosin tail (1); . . . . D 0.83843 0.5342 M 0.71206 2.165 0.503130 D 0.999869 P 0.40534 0.72 P 0.50162 0.633 D 0.85606 0.1255 9 0.59425 D 0.04 . 17.868200 0.888030 0.0:0.0:1.0:0.0 . 1622 P12883 MYH7_HUMAN V 1622;1627 ENSP00000347507:L1622V ENSP00000347507:L1622V L - 1 0 MYH7 22955142 1 0.714170 1 0.803570 0.989000 0.773840 7.165000 0.775440 2.537000 0.855490 0.655000 0.942530 CTC TCGA-F2-A44H-01A-11D-A26I-08 MYH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071798.3 1 0 1 94 707 0 68 0 0 0 1 0 68 2 0 0 0 0 0 2 1 1.000000 93 692 0 68 2 -3.221883 1 1 0 0 1 0 0 0 2.039838 0 0.260000 1.820000 0.256132 0.890000 0.730000 1.000000 1.000000 0.895792 0.890000 1 0.800000 0.990000 TRIM37 4591 broad.mit.edu 37 17 57158534 57158534 + Missense_Mutation SNP T T A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr17:57158534T>A ENST00000262294.7 - 6 675 c.416A>T c.(415-417)cAc>cTc p.H139L TRIM37_ENST00000376149.3_Missense_Mutation_p.H17L|TRIM37_ENST00000393065.2_Missense_Mutation_p.H105L|TRIM37_ENST00000393066.3_Missense_Mutation_p.H139L NM_015294.3 NP_056109.1 O94972 TRI37_HUMAN tripartite motif containing 37 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTAGTGACGTGTTGCTCATA 0.373000 Mulibrey Nanism 0 SO:0001583 missense Familial Cancer Database Perheentupa syndrome ENST00000262294.7 1 1 hg19 CCDS32694.1 . . . . . . . . . . T 31.000000 5.079159 0.940500 . . ENSG00000108395 ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065 T;T;T;T 0.68479 0.57;0.57;-0.33;0.57 5.620000 5.620000 0.858410 B-box, C-terminal (1); 0.000000 0.85682 D 0.000000 T 0.82185 0.4982 M 0.81682 2.555 0.807220 D 1.000000 D;D;B 0.89917 0.994;1.0;0.128 D;D;B 0.83275 0.949;0.996;0.138 D 0.84263 0.0484 10 0.59425 D 0.04 -21.7933 14.661300 0.688730 0.0:0.0:0.0:1.0 . 105;17;139 F8WEE6;O94972-2;O94972 .;.;TRI37_HUMAN L 139;139;17;105 ENSP00000376785:H139L;ENSP00000262294:H139L;ENSP00000365319:H17L;ENSP00000376784:H105L ENSP00000262294:H139L H - 2 0 TRIM37 54513316 1 0.714170 1 0.803570 0.974000 0.676020 7.864000 0.870370 2.150000 0.670900 0.528000 0.532280 CAC TCGA-F2-A44H-01A-11D-A26I-08 TRIM37-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445930.1 1 0 0 39 733 0 66 0 4.787797e-02 0 7 0 66 2 0 0 0 0 0 2 1 1.000000 39 727 0 66 2 -20.000000 1 1 0 0 1 1 2 3 2.049772 0 0.260000 1.820000 0.260961 0.380000 0.270000 0.530000 0.390000 0.396593 0.380000 0 0.330000 0.460000 C18orf25 147339 broad.mit.edu 37 18 43833700 43833700 + Silent SNP A A T rs141322867 by1000genomes TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:43833700A>T ENST00000282059.6 + 4 1310 c.936A>T c.(934-936)acA>acT p.T312T C18orf25_ENST00000321319.6_Silent_p.T251T NM_145055.3 NP_659492 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 11 GTGACAAAACATCTGGCAATG 0.398000 0 SO:0001819 synonymous_variant ENST00000282059.6 1 0 hg19 CCDS42430.1 TCGA-F2-A44H-01A-11D-A26I-08 C18orf25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445242.1 1 0 1 133 589 0 61 0 3.446371e-02 0 2 0 61 2 0 0 0 0 0 2 1 1.000000 135 590 0 61 2 -3.213718 1 1 0 0 1 0 1 1 1.772900 1 0.260000 1.820000 0.149425 0.970000 0.900000 1.000000 0.990000 0.976506 0.970000 1 0.940000 1.000000 ALPK2 115701 broad.mit.edu 37 18 56274646 56274646 + Nonsense_Mutation SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr18:56274646C>T ENST00000361673.3 - 3 348 c.135G>A c.(133-135)tgG>tgA p.W45* NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 84 CATTCTTATACCAAGTTACCT 0.348000 0 SO:0001587 stop_gained ENST00000361673.3 0 1 hg19 CCDS11966.2 . . . . . . . . . . C 39.000000 7.294979 0.981920 . . ENSG00000198796 ENST00000361673 . . . 5.900000 5.900000 0.949860 . . . . . . . . . . . 0.807220 A 1.000000 . . . . . . . . . . 0.02654 T 1 -1.1281 17.187200 0.868690 0.0:1.0:0.0:0.0 . . . . X 45 . ENSP00000354991:W45X W - 3 0 ALPK2 54425626 1 0.714170 1 0.803570 0.994000 0.842990 3.818000 0.556780 2.793000 0.961210 0.591000 0.815410 TGG TCGA-F2-A44H-01A-11D-A26I-08 ALPK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256126.1 1 0 0 38 225 0 18 0 0 0 0 18 2 0 0 0 0 0 2 1 1.000000 38 222 0 18 2 -20.000000 1 1 0 0 1 0 1 1 1.772900 1 0.260000 1.820000 0.149425 0.880000 0.670000 1.000000 0.950000 0.876745 0.880000 1 0.780000 0.970000 BST2 684 broad.mit.edu 37 19 17515193 17515193 + Silent SNP C C A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:17515193C>A ENST00000252593.6 - 2 411 c.339G>T c.(337-339)gtG>gtT p.V113V BST2_ENST00000527220.1_Intron|CTD-2521M24.9_ENST00000500836.2_lincRNA NM_004335.2 NP_004326.1 Q10589 BST2_HUMAN bone marrow stromal cell antigen 2 9 CAAGCTCCTCCACTTTCTTTT 0.582000 0 SO:0001819 synonymous_variant ENST00000252593.6 1 1 hg19 CCDS12358.1 TCGA-F2-A44H-01A-11D-A26I-08 BST2-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000387346.1 1 0 1 91 732 0 92 1 1 6 224 0 92 2 0 0 0 0 0 2 1 1.000000 89 726 0 92 2 -3.318794 1 1 0 0 1 0 1 1 2.039936 0 0.260000 1.820000 0.258071 0.840000 0.680000 1.000000 1.000000 0.850890 0.840000 0 0.760000 0.930000 SLC8A2 6543 broad.mit.edu 37 19 47968987 47968987 + Splice_Site SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:47968987T>C ENST00000236877.6 - 2 1069 c.674A>G c.(673-675)cAg>cGg p.Q225R SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) TTTGCTCACCTGGACCACACC 0.478000 0 SO:0001630 splice_region_variant ENST00000236877.6 0 1 hg19 CCDS33065.1 . . . . . . . . . . T 12.990000 2.103832 0.371450 . . ENSG00000118160 ENST00000391903;ENST00000236877 T 0.62639 0.01 4.160000 4.160000 0.488620 Sodium/calcium exchanger membrane region (1); 0.066208 0.64402 D 0.000012 T 0.55353 0.1915 L 0.39898 1.24 0.807220 D 1.000000 P;P 0.43826 0.818;0.801 P;B 0.44561 0.453;0.438 T 0.60429 -0.7265 10 0.87932 D 0 . 9.536800 0.392260 0.0:0.0:0.0:1.0 . 53;225 E9PGS7;Q9UPR5 .;NAC2_HUMAN R 53;225 ENSP00000236877:Q225R ENSP00000236877:Q225R Q - 2 0 SLC8A2 52660799 1 0.714170 1 0.803570 0.379000 0.301060 6.954000 0.760010 1.758000 0.519810 0.454000 0.307480 CAG TCGA-F2-A44H-01A-11D-A26I-08 SLC8A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466997.1 0 0 0 6 99 0 14 0 0 0 1 0 14 2 0 0 0 0 0 2 1 0.964338 6 97 0 14 2 -10.190810 1 1 0 0 1 0 1 1 2.040873 0 0.260000 1.820000 0.258071 0.460000 0.190000 0.850000 0.430000 0.487537 0.460000 0 0.300000 0.650000 LILRA6 79168 broad.mit.edu 37 19 54744909 54744909 + Silent SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr19:54744909G>A ENST00000396365.2 - 5 792 c.753C>T c.(751-753)taC>taT p.Y251Y LILRA6_ENST00000440558.2_Silent_p.Y251Y|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.Y251Y|LILRA6_ENST00000419410.2_Silent_p.Y251Y|LILRB3_ENST00000407860.2_Intron NM_024318.2 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CAAATCTGTCGTAGCCGACAT 0.652000 0 SO:0001819 synonymous_variant ENST00000396365.2 1 1 hg19 CCDS42610.1 TCGA-F2-A44H-01A-11D-A26I-08 LILRA6-003 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000313725.1 0 0 0 53 953 1 122 0 8.098397e-02 0 9 1 122 2 0 0 0 0 0 2 1 0.999433 54 925 1 123 25 -6.375130 1 1 121412 1 43 1 1 2 3 2.059402 0 0.260000 1.820000 0.263828 0.400000 0.300000 1.000000 0.410000 0.429978 0.400000 0 0.350000 0.470000 SORT1 6272 broad.mit.edu 37 1 109883487 109883487 + Missense_Mutation SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr1:109883487T>C ENST00000256637.6 - 10 1181 c.1123A>G c.(1123-1125)Aca>Gca p.T375A SORT1_ENST00000538502.1_Missense_Mutation_p.T238A NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) GTAAAGATTGTGCCAAACCCA 0.443000 0 SO:0001583 missense ENST00000256637.6 1 1 hg19 CCDS798.1 . . . . . . . . . . t 17.760000 3.469461 0.636250 . . ENSG00000134243 ENST00000256637;ENST00000538502 T;T 0.28454 1.61;1.61 5.690000 5.690000 0.884480 VPS10 (1); 0.101437 0.64402 D 0.000003 T 0.23532 0.0569 L 0.43757 1.38 0.584320 D 0.999999 B;P 0.43352 0.434;0.804 B;P 0.47102 0.148;0.537 T 0.01557 -1.1325 10 0.36615 T 0.2 -10.6008 14.923000 0.708540 0.0:0.0:0.0:1.0 . 238;375 B4DWI3;Q99523 .;SORT_HUMAN A 375;238 ENSP00000256637:T375A;ENSP00000438597:T238A ENSP00000256637:T375A T - 1 0 SORT1 109685010 1 0.714170 1 0.803570 0.995000 0.863560 7.820000 0.866330 2.170000 0.685040 0.529000 0.557590 ACA TCGA-F2-A44H-01A-11D-A26I-08 SORT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033179.1 1 0 1 45 231 0 31 1 9.576930e-01 3 26 0 31 2 0 0 0 0 0 2 1 1.000000 45 231 0 31 2 -19.999700 1 1 0 0 1 0 1 1 1.805362 1 0.260000 1.820000 0.155733 0.960000 0.770000 1.000000 1.000000 0.946102 0.960000 1 0.870000 1.000000 FLRT3 23767 broad.mit.edu 37 20 14307019 14307019 + Silent SNP T T C rs36034779 byFrequency TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr20:14307019T>C ENST00000378053.3 - 2 1390 c.1134A>G c.(1132-1134)caA>caG p.Q378Q MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.Q378Q NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) GCCACTGTCCTTGGGCAGGAT 0.453000 0 SO:0001819 synonymous_variant ENST00000378053.3 1 0 hg19 CCDS13121.1 TCGA-F2-A44H-01A-11D-A26I-08 FLRT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078075.1 1 0 0 69 1130 0 89 0 3.437054e-03 0 2 0 89 2 0 0 0 0 0 2 1 1.000000 69 1124 0 88 2 -9.193671 1 1 0 0 1 0 1 1 2.044880 0 0.260000 1.820000 0.258071 0.430000 0.340000 0.550000 0.440000 0.446106 0.430000 0 0.380000 0.500000 MCM3AP 8888 broad.mit.edu 37 21 47704430 47704430 + Silent SNP C C T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr21:47704430C>T ENST00000397708.1 - 2 1025 c.771G>A c.(769-771)gcG>gcA p.A257A YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000329319.3_5'Flank|MCM3AP_ENST00000291688.1_Silent_p.A257A|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank O60318 GANP_HUMAN minichromosome maintenance complex component 3 associated protein 72 Breast(49;0.112) CGCCCAAAACCGCAGATGATA 0.468000 0 SO:0001819 synonymous_variant ENST00000397708.1 1 1 hg19 CCDS13734.1 TCGA-F2-A44H-01A-11D-A26I-08 MCM3AP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207254.1 1 0 1 94 676 0 74 1 5.997189e-01 3 13 0 74 2 0 0 0 0 0 2 1 1.000000 92 669 0 74 2 -2.716734 1 1 0 0 1 0 1 1 2.042870 0 0.260000 1.820000 0.258071 0.930000 0.760000 1.000000 1.000000 0.926172 0.930000 1 0.840000 1.000000 C2orf71 388939 broad.mit.edu 37 2 29295765 29295765 + Missense_Mutation SNP G G T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:29295765G>T ENST00000331664.5 - 1 1362 c.1363C>A c.(1363-1365)Cca>Aca p.P455T NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 60 GAATCACATGGGGTGCTTGTC 0.552000 0 SO:0001583 missense ENST00000331664.5 1 1 hg19 CCDS42669.1 . . . . . . . . . . G 9.104000 1.004923 0.191990 . . ENSG00000179270 ENST00000331664 T 0.19394 2.15 5.300000 -3.700000 0.044370 . 1.678270 0.03044 N 0.153697 T 0.18800 0.0451 L 0.56769 1.78 0.093100 N 1.000000 P 0.38370 0.628 B 0.34489 0.184 T 0.29912 -0.9996 10 0.33940 T 0.23 3.0531 6.309000 0.211540 0.4479:0.3978:0.1543:0.0 . 455 A6NGG8 CB071_HUMAN T 455 ENSP00000332809:P455T ENSP00000332809:P455T P - 1 0 C2orf71 29149269 0 0.058580 0 0.037020 0.003000 0.035180 -0.083000 0.112860 -0.583000 0.059210 0.561000 0.740990 CCA TCGA-F2-A44H-01A-11D-A26I-08 C2orf71-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000324924.3 1 0 0 28 483 0 57 0 0 0 0 57 2 0 0 0 0 0 2 1 1.000000 28 479 0 56 2 -2.665703 1 1 0 0 1 0 0 0 2.037145 0 0.260000 1.820000 0.256132 0.410000 0.280000 0.580000 0.420000 0.430132 0.410000 0 0.340000 0.500000 APLF 200558 broad.mit.edu 37 2 68729986 68729986 + Missense_Mutation SNP T T A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr2:68729986T>A ENST00000303795.4 + 3 463 c.292T>A c.(292-294)Ttc>Atc p.F98I NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 25 CAAATACATTTTCCGCATTCT 0.373000 0 SO:0001583 missense ENST00000303795.4 1 1 hg19 CCDS1888.1 . . . . . . . . . . t 15.350000 2.807837 0.504210 . . ENSG00000169621 ENST00000303795 T 0.27104 1.69 5.220000 5.220000 0.725690 SMAD/FHA domain (1); 0.053905 0.64402 D 0.000001 T 0.53449 0.1797 M 0.83603 2.65 0.444320 D 0.997351 D;D 0.89917 1.0;0.999 D;D 0.87578 0.998;0.994 T 0.60136 -0.7322 10 0.87932 D 0 . 12.924000 0.582490 0.0:0.0:0.0:1.0 . 98;98 F8WET0;Q8IW19 .;APLF_HUMAN I 98 ENSP00000307004:F98I ENSP00000307004:F98I F + 1 0 APLF 68583490 9.820000e-01 0.348650 4.240000e-01 0.266470 0.007000 0.059690 4.205000 0.584660 2.091000 0.632210 0.533000 0.621200 TTC TCGA-F2-A44H-01A-11D-A26I-08 APLF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251759.1 1 0 1 126 789 0 60 0 1.972041e-01 1 5 0 60 2 0 0 0 0 0 2 1 1.000000 125 786 0 60 2 -20.000000 1 1 0 0 1 0 0 0 2.037145 0 0.260000 1.820000 0.256132 0.990000 0.880000 1.000000 1.000000 0.986810 0.990000 1 0.960000 1.000000 AGGF1 55109 broad.mit.edu 37 5 76349893 76349893 + Missense_Mutation SNP A A T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr5:76349893A>T ENST00000312916.7 + 10 1953 c.1571A>T c.(1570-1572)gAt>gTt p.D524V NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) GATACCTGTGATGGCTGTGAA 0.408000 0 SO:0001583 missense ENST00000312916.7 1 1 hg19 CCDS4035.1 . . . . . . . . . . A 17.030000 3.284157 0.598670 . . ENSG00000164252 ENST00000312916 T 0.40476 1.03 5.020000 5.020000 0.671250 Forkhead-associated (FHA) domain (1); 0.000000 0.85682 D 0.000000 T 0.40619 0.1124 L 0.56769 1.78 0.807220 D 1.000000 P 0.38617 0.64 B 0.34779 0.189 T 0.46345 -0.9198 10 0.72032 D 0.01 -0.0151 14.749800 0.695160 1.0:0.0:0.0:0.0 . 524 Q8N302 AGGF1_HUMAN V 524 ENSP00000316109:D524V ENSP00000316109:D524V D + 2 0 AGGF1 76385649 1 0.714170 1 0.803570 0.995000 0.863560 9.271000 0.956980 1.883000 0.545440 0.379000 0.241790 GAT TCGA-F2-A44H-01A-11D-A26I-08 AGGF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219971.2 1 0 0 59 654 0 73 0 5.822350e-01 0 23 0 73 2 0 0 0 0 0 2 1 1.000000 59 646 0 72 2 -20.000000 1 1 0 0 1 1 2 3 2.054723 0 0.260000 1.820000 0.261919 0.630000 0.490000 0.830000 0.630000 0.648112 0.630000 0 0.560000 0.730000 SYNE1 23345 broad.mit.edu 37 6 152651474 152651474 + Silent SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr6:152651474T>C ENST00000367255.5 - 78 14947 c.14346A>G c.(14344-14346)gaA>gaG p.E4782E SYNE1_ENST00000341594.5_Silent_p.E4529E|SYNE1_ENST00000265368.4_Silent_p.E4782E|SYNE1_ENST00000448038.1_Silent_p.E4711E|SYNE1_ENST00000423061.1_Silent_p.E4711E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) TCTTCTCGTGTTCTTGGTAAG 0.478000 HNSCC(10;0.0054) 0 SO:0001819 synonymous_variant ENST00000367255.5 0 1 hg19 CCDS5236.2 TCGA-F2-A44H-01A-11D-A26I-08 SYNE1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000334755.2 1 0 0 14 304 0 18 0 0 0 1 0 18 2 0 0 0 0 0 2 1 0.999755 14 301 0 18 2 -15.561270 1 1 0 0 1 0 1 1 1.793106 1 0.260000 1.820000 0.150694 0.290000 0.160000 0.460000 0.290000 0.308619 0.290000 0 0.220000 0.380000 ELMO1 9844 broad.mit.edu 37 7 37354484 37354484 + Silent SNP G G A TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr7:37354484G>A ENST00000310758.4 - 4 809 c.162C>T c.(160-162)gcC>gcT p.A54A ELMO1_ENST00000442504.1_Silent_p.A54A|ELMO1_ENST00000448602.1_Silent_p.A54A NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 58 TTGAACTATCGGCATGCTGGA 0.328000 0 SO:0001819 synonymous_variant ENST00000310758.4 0 1 hg19 CCDS5449.1 TCGA-F2-A44H-01A-11D-A26I-08 ELMO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219830.4 1 0 0 15 173 0 10 0 2.108019e-02 0 3 0 10 2 0 0 0 0 0 2 1 0.999879 15 170 0 10 2 -2.841682 1 1 121412 18 43 1 1 2 3 2.054742 0 0.260000 1.820000 0.261919 0.620000 0.360000 1.000000 0.610000 0.642075 0.620000 0 0.480000 0.800000 ASH2L 9070 broad.mit.edu 37 8 37974234 37974234 + Missense_Mutation SNP A A T TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:37974234A>T ENST00000343823.6 + 8 1153 c.844A>T c.(844-846)Aat>Tat p.N282Y ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.N188Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.N143Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.N188Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.N188Y NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TACTAGTGGGAATTTAAATGG 0.378000 0 SO:0001583 missense ENST00000343823.6 1 1 hg19 CCDS6101.1 . . . . . . . . . . A 16.040000 3.009607 0.543610 . . ENSG00000129691 ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652 T;T;T;T;T 0.22539 1.95;1.95;1.95;1.95;1.95 5.790000 5.790000 0.918170 . 0.088769 0.85682 D 0.000000 T 0.12347 0.0300 N 0.03608 -0.345 0.467740 D 0.999190 B;P 0.47350 0.001;0.894 B;B 0.41723 0.001;0.365 T 0.17107 -1.0380 10 0.59425 D 0.04 . 16.119300 0.813360 1.0:0.0:0.0:0.0 . 188;282 Q9UBL3-2;Q9UBL3 .;ASH2L_HUMAN Y 282;188;143;188;188 ENSP00000340896:N282Y;ENSP00000250635:N188Y;ENSP00000443606:N143Y;ENSP00000395310:N188Y;ENSP00000430259:N188Y ENSP00000250635:N188Y N + 1 0 ASH2L 38093391 1 0.714170 1 0.803570 0.963000 0.636630 5.057000 0.642940 2.201000 0.707940 0.533000 0.621200 AAT TCGA-F2-A44H-01A-11D-A26I-08 ASH2L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376749.4 1 0 0 30 310 0 25 1 7.705493e-01 5 26 0 25 2 0 0 0 0 0 2 1 1.000000 30 308 0 24 2 -20.000000 1 1 0 0 1 1 2 3 2.056714 0 0.260000 1.820000 0.261919 0.680000 0.470000 0.970000 0.670000 0.695840 0.680000 0 0.570000 0.820000 PXDNL 137902 broad.mit.edu 37 8 52321508 52321508 + Silent SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr8:52321508G>C ENST00000356297.4 - 17 2776 c.2676C>G c.(2674-2676)gcC>gcG p.A892A PXDNL_ENST00000543296.1_Silent_p.A892A NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATCGATGTAGGCTGTTTGCT 0.617000 0 SO:0001819 synonymous_variant ENST00000356297.4 1 1 hg19 CCDS47855.1 . . . . . . . . . . G 0.661000 -0.805621 0.028190 . . ENSG00000147485 ENST00000522933 . . . 4.170000 -1.270000 0.093470 . . . . . T 0.42539 0.1207 . . . 0.807220 D 1.000000 . . . . . . T 0.21449 -1.0245 4 . . . . 3.398700 0.073150 0.3694:0.0:0.3804:0.2502 . . . . R 11 . . P - 2 0 PXDNL 52484061 0 0.058580 3.000000e-03 0.115790 0.009000 0.068530 -3.594000 0.004200 -0.767000 0.046330 0.655000 0.942530 CCT TCGA-F2-A44H-01A-11D-A26I-08 PXDNL-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377905.1 1 0 0 34 317 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 1.000000 34 315 0 53 2 -20.000000 1 0 0 0 1 1 2 3 2.056714 0 0.260000 1.820000 0.261919 0.740000 0.530000 1.000000 1.000000 0.759196 0.740000 0 0.630000 0.880000 ZNF484 83744 broad.mit.edu 37 9 95610736 95610736 + Silent SNP T T C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chr9:95610736T>C ENST00000375495.3 - 5 481 c.333A>G c.(331-333)ccA>ccG p.P111P ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Silent_p.P75P|ZNF484_ENST00000332591.6_Silent_p.P75P|ZNF484_ENST00000395506.3_Silent_p.P113P NM_031486.2 NP_113674.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 33 AAATGGAATATGGGTCATCTC 0.363000 0 SO:0001819 synonymous_variant ENST00000375495.3 1 1 hg19 CCDS35066.1 TCGA-F2-A44H-01A-11D-A26I-08 ZNF484-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000053111.2 1 0 1 95 506 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 1.000000 95 502 0 30 2 -20.000000 1 1 0 0 1 0 1 1 1.798577 1 0.260000 1.820000 0.154479 0.970000 0.840000 1.000000 1.000000 0.964709 0.970000 1 0.910000 1.000000 RBM10 8241 broad.mit.edu 37 X 47045114 47045114 + Splice_Site SNP G G C TCGA-F2-A44H-01A-11D-A26I-08 TCGA-F2-A44H-10A-01D-A26I-08 G C G G Valid Somatic Phase_I WXS targeted Illumina GAIIx b059c399-13e4-4524-9505-49b477983cfa bc622231-2dda-44dc-b430-9f4738960c07 g.chrX:47045114G>C ENST00000377604.3 + 21 3097 c.e21-1 RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000345781.6_Splice_Site NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 48 CCCTCTTGCAGCAAAACCTTG 0.562000 Melanoma(171;120 2705 19495 39241) 0 SO:0001630 splice_region_variant ENST00000377604.3 1 1 hg19 CCDS14274.1 . . . . . . . . . . G 16.050000 3.012815 0.544680 . . ENSG00000182872 ENST00000377604;ENST00000329236;ENST00000345781 . . . 5.130000 5.130000 0.700590 . . . . . . . . . . . 0.807220 D 1.000000 . . . . . . . . . . . . . . 15.275900 0.737420 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . RBM10 46930058 1 0.714170 1 0.803570 0.917000 0.548040 9.496000 0.979670 2.285000 0.766690 0.529000 0.557590 . TCGA-F2-A44H-01A-11D-A26I-08 RBM10-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056381.1 1 0 1 15 54 0 13 1 7.677208e-01 10 2 0 13 2 1 1 87 279 0 300 2 1 0.999927 15 53 0 13 2 -12.784080 1 1 0 0 1 0 1 1 0.260000 1.820000 0.260000 0.770000 0.490000 0.980000 0.810000 0.774076 0.770000 0 0.620000 0.920000