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 chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A2MP1 0 genome.wustl.edu 37 12 9413853 9413853 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 9413853 9413853 T C SNP A2MP1 ENST00000544183 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors A2MP1 HGNC ENSG00000256069 32 0 0.00 39 8 17.02 - - - A2MP1 0 genome.wustl.edu 37 12 9413867 9413867 + RNA SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 9413867 9413867 A G SNP A2MP1 ENST00000544183 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors A2MP1 HGNC ENSG00000256069 29 0 0.00 39 9 18.75 - - - AACSP1 0 genome.wustl.edu 37 5 178199558 178199558 + RNA SNP C C G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 5 178199558 178199558 C G SNP AACSP1 ENST00000503486 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors AACSP1 HGNC ENSG00000250420 33 0 0.00 41 7 14.58 - - - ACE 0 genome.wustl.edu 37 17 61584720 61584720 + Missense_Mutation SNP A A T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 61584720 61584720 A T SNP ACE ENST00000490216 human ensembl 69_37n +1 known missense c.2145 p.K715N 0.000 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 48 0 0.00 43 9 17.31 - - - AGAP1 0 genome.wustl.edu 37 2 236761396 236761396 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 236761396 236761396 C T SNP AGAP1 ENST00000409457 human ensembl 69_37n +1 novel missense c.1117 p.R373C 0.903 NULL pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 35 0 0.00 36 4 10.00 - - - AKAP3 0 genome.wustl.edu 37 12 4758188 4758188 + RNA SNP G G C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 4758188 4758188 G C SNP AKAP3 ENST00000541484 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors AKAP3 HGNC ENSG00000111254 27 0 0.00 39 5 11.36 - - - ANAPC1 0 genome.wustl.edu 37 2 112552427 112552427 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 112552427 112552427 C T SNP ANAPC1 ENST00000427997 human ensembl 69_37n -1 novel missense c.2944 p.V982M 0.951 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANAPC1 HGNC ENSG00000153107 32 0 0.00 32 5 13.51 - - - ANKRD61 0 genome.wustl.edu 37 7 6071115 6071115 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 7 6071115 6071115 A G SNP ANKRD61 ENST00000409061 human ensembl 69_37n +1 novel missense c.109 p.M37V 0.482 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD61 HGNC ENSG00000157999 31 0 0.00 24 4 14.29 - - - ANTXRL 0 genome.wustl.edu 37 10 47669277 47669277 + Missense_Mutation SNP C C G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 47669277 47669277 C G SNP ANTXRL ENST00000537271 human ensembl 69_37n +1 known missense c.775 p.P259A 0.000 pfam_Anthrax_toxin_rcpt_extracel pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXRL HGNC ENSG00000198250 36 0 0.00 35 4 10.26 - - - AOX2P 0 genome.wustl.edu 37 2 201610584 201610584 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 201610584 201610584 T C SNP AOX2P ENST00000472376 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC ENSG00000243478 26 0 0.00 23 5 17.86 - - - ARMCX4 0 genome.wustl.edu 37 X 100743826 100743826 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de X 100743826 100743826 A G SNP ARMCX4 ENST00000433011 human ensembl 69_37n +1 known missense c.562 p.R188G 0.002 NULL NULL - no_errors ARMCX4 HGNC ENSG00000196440 22 0 0.00 21 4 16.00 - - - AXDND1 0 genome.wustl.edu 37 1 179504026 179504028 + In_Frame_Del DEL AAG AAG - TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 179504026 179504028 AAG - DEL AXDND1 ENST00000367618 human ensembl 69_37n +1 known in_frame_del c.2960_2962 p.E991in_frame_del 0.004:0.002:0.015 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 30 0 0.00 33 5 13.16 - - - C10orf112 0 genome.wustl.edu 37 10 19676553 19676553 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 19676553 19676553 A G SNP C10orf112 ENST00000454679 human ensembl 69_37n +1 known missense c.2426 p.D809G 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 58 0 0.00 51 7 12.07 - - - C10orf112 0 genome.wustl.edu 37 10 19676561 19676561 + Missense_Mutation SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 19676561 19676561 G A SNP C10orf112 ENST00000454679 human ensembl 69_37n +1 known missense c.2434 p.E812K 0.978 superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 61 0 0.00 50 7 12.07 - - - C10orf112 0 genome.wustl.edu 37 10 19778056 19778056 + Missense_Mutation SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 19778056 19778056 G A SNP C10orf112 ENST00000377265 human ensembl 69_37n +1 novel missense c.34 p.G12R 0.007 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,smart_EGF-like,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C10orf112 HGNC ENSG00000204740 23 0 0.00 25 5 16.67 - - - C1orf167 0 genome.wustl.edu 37 1 11832289 11832289 + Missense_Mutation SNP C C A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 11832289 11832289 C A SNP C1orf167 ENST00000433342 human ensembl 69_37n +1 known missense c.2033 p.P678H 0.000 NULL NULL - no_errors C1orf167 HGNC ENSG00000215910 23 0 0.00 25 6 19.35 - - - C2orf43 0 genome.wustl.edu 37 2 20885321 20885321 + Missense_Mutation SNP C C A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 20885321 20885321 C A SNP C2orf43 ENST00000403006 human ensembl 69_37n -1 putative missense c.681 p.L227F 0.234 NULL pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 30 0 0.00 56 8 12.50 - - - CCDC108 0 genome.wustl.edu 37 2 219892233 219892233 + Missense_Mutation SNP T T A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 219892233 219892233 T A SNP CCDC108 ENST00000409865 human ensembl 69_37n -1 putative missense c.2317 p.T773S 0.000 NULL superfamily_PapD-like - no_errors CCDC108 HGNC ENSG00000181378 26 0 0.00 48 6 11.11 - - - CCDC40 0 genome.wustl.edu 37 17 78063957 78063957 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 78063957 78063957 A G SNP CCDC40 ENST00000374877 human ensembl 69_37n +1 known missense c.2852 p.Q951R 0.005 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 25 0 0.00 43 8 15.69 - - - CCDC40 0 genome.wustl.edu 37 17 78063964 78063964 + Silent SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 78063964 78063964 A G SNP CCDC40 ENST00000374877 human ensembl 69_37n +1 known silent c.2859 p.A953 0.003 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 25 0 0.00 40 6 12.77 - - - CCDC40 0 genome.wustl.edu 37 17 78063966 78063966 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 78063966 78063966 A G SNP CCDC40 ENST00000374877 human ensembl 69_37n +1 known missense c.2861 p.H954R 0.005 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 25 0 0.00 42 6 12.50 - - - CHFR 0 genome.wustl.edu 37 12 133417908 133417908 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 133417908 133417908 C T SNP CHFR ENST00000544093 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CHFR HGNC ENSG00000072609 16 0 0.00 8 4 30.77 - - - CSPG4P5 0 genome.wustl.edu 37 15 84954258 84954258 + RNA SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 15 84954258 84954258 A G SNP CSPG4P5 ENST00000456932 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CSPG4P5 HGNC ENSG00000235370 64 0 0.00 60 7 10.45 - - - CYBRD1 0 genome.wustl.edu 37 2 172379781 172379781 + Missense_Mutation SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 172379781 172379781 G A SNP CYBRD1 ENST00000445146 human ensembl 69_37n +1 putative missense c.35 p.R12Q 0.000 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_stop_codon:bad_bp_length_for_coding_region CYBRD1 HGNC ENSG00000071967 70 0 0.00 59 9 13.24 - - - DHRS4 0 genome.wustl.edu 37 14 24436602 24436602 + Missense_Mutation SNP C C A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 14 24436602 24436602 C A SNP DHRS4 ENST00000559975 human ensembl 69_37n +1 putative missense c.119 p.P40Q 0.010 NULL NULL - no_start_codon DHRS4 HGNC ENSG00000157326 14 0 0.00 15 6 28.57 - - - DKFZP686I15217 0 genome.wustl.edu 37 6 2990894 2990894 + RNA SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 6 2990894 2990894 G T SNP DKFZP686I15217 ENST00000445000 human ensembl 69_37n +1 putative rna NULL NULL 0.013 - - - no_errors RP1-90J20.7 Clone_based_vega_gene ENSG00000244041 23 0 0.00 22 5 18.52 - - - DNAJC11 0 genome.wustl.edu 37 1 6694980 6694980 + RNA SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 6694980 6694980 G A SNP DNAJC11 ENST00000465508 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors DNAJC11 HGNC ENSG00000007923 27 0 0.00 18 4 18.18 - - - EFCAB8 0 genome.wustl.edu 37 20 31486206 31486206 + RNA SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 20 31486206 31486206 A G SNP EFCAB8 ENST00000533479 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors EFCAB8 HGNC ENSG00000215529 21 0 0.00 23 4 14.29 - - - ERGIC1 0 genome.wustl.edu 37 5 172347440 172347440 + RNA SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 5 172347440 172347440 G A SNP ERGIC1 ENST00000523650 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ERGIC1 HGNC ENSG00000113719 31 0 0.00 43 6 12.24 - - - FAAH2 0 genome.wustl.edu 37 X 57515439 57515439 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de X 57515439 57515439 T C SNP FAAH2 ENST00000491179 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors FAAH2 HGNC ENSG00000165591 17 0 0.00 29 6 17.14 - - - FAM188B2 0 genome.wustl.edu 37 3 150608785 150608785 + Silent SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 150608785 150608785 G A SNP FAM188B2 ENST00000397891 human ensembl 69_37n -1 known silent c.315 p.V105 0.732 NULL NULL - no_errors FAM188B2 HGNC ENSG00000214237 27 0 0.00 23 5 17.86 - - - FAM86C2P 0 genome.wustl.edu 37 11 67564162 67564162 + RNA SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 11 67564162 67564162 A G SNP FAM86C2P ENST00000525180 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors FAM86C2P HGNC ENSG00000160172 79 0 0.00 88 11 11.11 - - - FAM92A1P2 0 genome.wustl.edu 37 4 183959226 183959226 + RNA SNP T T G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 4 183959226 183959226 T G SNP FAM92A1P2 ENST00000502308 human ensembl 69_37n +1 known rna NULL NULL 0.985 - - - no_errors FAM92A1P2 HGNC ENSG00000230219 19 0 0.00 22 4 15.38 - - - FAM92A1P2 0 genome.wustl.edu 37 4 183959891 183959891 + RNA SNP A A T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 4 183959891 183959891 A T SNP FAM92A1P2 ENST00000502308 human ensembl 69_37n +1 known rna NULL NULL 0.950 - - - no_errors FAM92A1P2 HGNC ENSG00000230219 28 0 0.00 23 4 14.29 - - - FANCD2 0 genome.wustl.edu 37 3 10108898 10108898 + Silent SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 10108898 10108898 A G SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known silent c.2391 p.V797 0.998 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 20 0 0.00 23 4 14.81 - - - FANCD2 0 genome.wustl.edu 37 3 10108913 10108913 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 10108913 10108913 G T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2406 p.Q802H 0.852 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 23 0 0.00 24 4 14.29 - - - FCRLB 0 genome.wustl.edu 37 1 161696088 161696088 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 161696088 161696088 T C SNP FCRLB ENST00000495397 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FCRLB HGNC ENSG00000162746 23 0 0.00 24 4 14.29 - - - FLJ38723 0 genome.wustl.edu 37 15 62538092 62538092 + RNA SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 15 62538092 62538092 G T SNP FLJ38723 ENST00000570077 human ensembl 69_37n -1 known rna NULL NULL 0.990 - - - no_errors RP11-299H22.3 Clone_based_vega_gene ENSG00000166104 66 0 0.00 54 6 10.00 - - - FLJ42102 0 genome.wustl.edu 37 11 71118788 71118788 + RNA SNP C C A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 11 71118788 71118788 C A SNP FLJ42102 ENST00000331301 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors AP002387.1 Clone_based_vega_gene ENSG00000172900 21 0 0.00 24 7 22.58 - - - FRMPD2 0 genome.wustl.edu 37 10 49389016 49389016 + Missense_Mutation SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 49389016 49389016 T C SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known missense c.2620 p.S874G 0.017 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 61 0 0.00 31 6 16.22 - - - GAS2L3 0 genome.wustl.edu 37 12 100994239 100994239 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 100994239 100994239 G T SNP GAS2L3 ENST00000266754 human ensembl 69_37n +1 known missense c.98 p.C33F 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 36 0 0.00 35 4 10.26 - - - GDPD4 0 genome.wustl.edu 37 11 76928025 76928025 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 11 76928025 76928025 A G SNP GDPD4 ENST00000376217 human ensembl 69_37n -1 known missense c.1829 p.V610A 0.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 65 0 0.00 76 10 11.63 - - - GNN 0 genome.wustl.edu 37 12 104260287 104260287 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 104260287 104260287 T C SNP GNN ENST00000548527 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 32 0 0.00 35 4 10.26 - - - GPATCH4 0 genome.wustl.edu 37 1 156567712 156567712 + Nonsense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 156567712 156567712 C T SNP GPATCH4 ENST00000474904 human ensembl 69_37n -1 known nonsense c.336 p.W112* 0.003 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 31 0 0.00 32 4 11.11 - - - GPR111 0 genome.wustl.edu 37 6 47624299 47624299 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 6 47624299 47624299 A G SNP GPR111 ENST00000296862 human ensembl 69_37n +1 known missense c.77 p.H26R 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR111 HGNC ENSG00000164393 35 0 0.00 43 5 10.42 - - - GPR55 0 genome.wustl.edu 37 2 231775277 231775277 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 231775277 231775277 G T SNP GPR55 ENST00000392039 human ensembl 69_37n -1 known missense c.401 p.S134Y 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR55 HGNC ENSG00000135898 38 0 0.00 32 4 11.11 - - - GRIN3A 0 genome.wustl.edu 37 9 104375789 104375789 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 9 104375789 104375789 G T SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.2635 p.P879T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 42 0 0.00 34 4 10.53 - - - HILPDA 0 genome.wustl.edu 37 7 128096678 128096678 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 7 128096678 128096678 T C SNP HILPDA ENST00000466473 human ensembl 69_37n +1 known rna NULL NULL 0.157 - - - no_errors HILPDA HGNC ENSG00000135245 43 0 0.00 58 8 12.12 - - - HLA-F-AS1 0 genome.wustl.edu 37 6 29713465 29713465 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 6 29713465 29713465 T C SNP HLA-F-AS1 ENST00000458236 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors HLA-F-AS1 HGNC ENSG00000214922 23 0 0.00 29 5 14.71 - - - HSD17B7 0 genome.wustl.edu 37 1 162760551 162760551 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 162760551 162760551 C T SNP HSD17B7 ENST00000463037 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HSD17B7 HGNC ENSG00000132196 40 0 0.00 41 8 16.33 - - - IQCA1P1 0 genome.wustl.edu 37 7 150893629 150893629 + RNA SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 7 150893629 150893629 T C SNP IQCA1P1 ENST00000453127 human ensembl 69_37n -1 known rna NULL NULL 0.871 - - - no_errors IQCA1P1 HGNC ENSG00000183016 40 0 0.00 53 7 11.67 - - - ITGAX 0 genome.wustl.edu 37 16 31367254 31367254 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 16 31367254 31367254 G T SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known missense c.78 p.E26D 0.043 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 28 0 0.00 34 4 10.53 - - - IVNS1ABP 0 genome.wustl.edu 37 1 185267114 185267114 + RNA SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 185267114 185267114 A G SNP IVNS1ABP ENST00000459929 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors IVNS1ABP HGNC ENSG00000116679 57 0 0.00 74 10 11.90 - - - KIAA1328 0 genome.wustl.edu 37 18 34664093 34664093 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 18 34664093 34664093 A G SNP KIAA1328 ENST00000435985 human ensembl 69_37n +1 known missense c.386 p.K129R 0.998 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 16 0 0.00 20 5 20.00 - - - KRBA1 0 genome.wustl.edu 37 7 149418856 149418856 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 7 149418856 149418856 C T SNP KRBA1 ENST00000467333 human ensembl 69_37n +1 putative missense c.424 p.R142C 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KRBA1 HGNC ENSG00000133619 24 0 0.00 21 4 16.00 - - - KRT8P12 0 genome.wustl.edu 37 3 160285898 160285898 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 160285898 160285898 C T SNP KRT8P12 ENST00000468527 human ensembl 69_37n +1 putative rna NULL NULL 1.000 - - - no_errors KRT8P12 HGNC ENSG00000229320 34 0 0.00 31 5 13.89 - - - LINC00514 0 genome.wustl.edu 37 16 3050133 3050133 + RNA SNP G G C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 16 3050133 3050133 G C SNP LINC00514 ENST00000572086 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LINC00514 HGNC ENSG00000262152 34 0 0.00 41 9 17.65 - - - LINC00634 0 genome.wustl.edu 37 22 42354488 42354489 + RNA DEL GA GA - TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 22 42354488 42354489 GA - DEL LINC00634 ENST00000381348 human ensembl 69_37n +1 known rna NULL NULL 0.088:0.090 - - - no_errors LINC00634 HGNC ENSG00000205704 13 0 0.00 7 5 38.46 - - - MARCH10 0 genome.wustl.edu 37 17 60827660 60827660 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 60827660 60827660 A G SNP MARCH10 ENST00000582568 human ensembl 69_37n -1 putative missense c.395 p.V132A 0.067 NULL NULL - no_start_codon MARCH10 HGNC ENSG00000173838 28 0 0.00 18 6 25.00 - - - MGST3 0 genome.wustl.edu 37 1 165630698 165630698 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 165630698 165630698 A G SNP MGST3 ENST00000367888 human ensembl 69_37n +1 putative missense c.355 p.T119A 0.136 NULL pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 25 0 0.00 51 9 15.00 - - - MON2 0 genome.wustl.edu 37 12 62902420 62902420 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 62902420 62902420 C T SNP MON2 ENST00000549378 human ensembl 69_37n +1 known rna NULL NULL 0.006 - - - no_errors MON2 HGNC ENSG00000061987 34 0 0.00 31 6 16.22 - - - MUC4 0 genome.wustl.edu 37 3 195492238 195492238 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 195492238 195492238 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.13701 p.S4567R 0.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 31 0 0.00 24 4 14.29 - - - NBPF22P 0 genome.wustl.edu 37 5 85583507 85583507 + RNA SNP T T G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 5 85583507 85583507 T G SNP NBPF22P ENST00000590707 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors NBPF22P HGNC ENSG00000205449 108 1 0.92 102 16 13.56 - - - NOMO1 0 genome.wustl.edu 37 16 14988868 14988868 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 16 14988868 14988868 A G SNP NOMO1 ENST00000287667 human ensembl 69_37n +1 known missense c.3458 p.E1153G 1.000 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 60 0 0.00 48 6 11.11 - - - OTOG 0 genome.wustl.edu 37 11 17631751 17631751 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 11 17631751 17631751 C T SNP OTOG ENST00000399391 human ensembl 69_37n +1 known missense c.4940 p.P1647L 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 25 0 0.00 21 4 16.00 - - - PDZK1P1 0 genome.wustl.edu 37 1 145931852 145931852 + RNA SNP A A C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 145931852 145931852 A C SNP PDZK1P1 ENST00000401011 human ensembl 69_37n -1 known rna NULL NULL 0.981 - - - no_errors PDZK1P1 HGNC ENSG00000215860 96 0 0.00 111 14 11.20 - - - PIK3C2G 0 genome.wustl.edu 37 12 18435399 18435401 + In_Frame_Del DEL CCC CCC - TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 18435399 18435401 CCC - DEL PIK3C2G ENST00000538779 human ensembl 69_37n +1 known in_frame_del c.384_386 p.P129in_frame_del 0.001:0.000:0.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 36 0 0.00 50 7 12.28 - - - PKD1P6 0 genome.wustl.edu 37 16 15226880 15226880 + RNA SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 16 15226880 15226880 G A SNP PKD1P6 ENST00000540075 human ensembl 69_37n -1 known rna NULL NULL 0.274 - - - no_errors PKD1P6 HGNC ENSG00000250251 30 0 0.00 37 5 11.90 - - - PLD5 0 genome.wustl.edu 37 1 242687390 242687390 + Silent SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 242687390 242687390 G A SNP PLD5 ENST00000536534 human ensembl 69_37n -1 known silent c.189 p.H63 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 29 0 0.00 25 4 13.79 - - - PLEKHA3 0 genome.wustl.edu 37 2 179367086 179367086 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 179367086 179367086 A G SNP PLEKHA3 ENST00000421187 human ensembl 69_37n +1 putative missense c.226 p.R76G 0.000 NULL NULL - no_start_codon PLEKHA3 HGNC ENSG00000116095 34 0 0.00 28 5 15.15 - - - PRAMEF2 0 genome.wustl.edu 37 1 12921333 12921333 + Missense_Mutation SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 12921333 12921333 G A SNP PRAMEF2 ENST00000240189 human ensembl 69_37n +1 known missense c.1124 p.C375Y 0.676 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 97 0 0.00 94 11 10.48 - - - PRAMEF4 0 genome.wustl.edu 37 1 12943200 12943200 + Missense_Mutation SNP A A G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 12943200 12943200 A G SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known missense c.16 p.W6R 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 63 0 0.00 52 7 11.86 - - - PRSS51 0 genome.wustl.edu 37 8 10356187 10356187 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 8 10356187 10356187 C T SNP PRSS51 ENST00000523024 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors PRSS51 HGNC ENSG00000253649 35 0 0.00 29 5 14.71 - - - PTPRVP 0 genome.wustl.edu 37 1 202140436 202140436 + RNA SNP A A T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 202140436 202140436 A T SNP PTPRVP ENST00000482597 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PTPRVP HGNC ENSG00000243323 45 0 0.00 36 4 10.00 - - - RNF126P1 0 genome.wustl.edu 37 17 55123297 55123297 + RNA SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 55123297 55123297 G A SNP RNF126P1 ENST00000567452 human ensembl 69_37n +1 known rna NULL NULL 0.916 - - - no_errors RNF126P1 HGNC ENSG00000261192 57 0 0.00 35 4 10.26 - - - RNF216P1 0 genome.wustl.edu 37 7 5036758 5036758 + RNA SNP A A C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 7 5036758 5036758 A C SNP RNF216P1 ENST00000403969 human ensembl 69_37n +1 known rna NULL NULL 0.920 - - - no_errors RNF216P1 HGNC ENSG00000196204 54 0 0.00 40 8 16.67 - - - RPLP0P2 0 genome.wustl.edu 37 11 61405104 61405104 + RNA SNP T T G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 11 61405104 61405104 T G SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 51 0 0.00 58 7 10.77 - - - RPTOR 0 genome.wustl.edu 37 17 78519122 78519122 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 78519122 78519122 C T SNP RPTOR ENST00000577161 human ensembl 69_37n +1 known rna NULL NULL 0.215 - - - no_errors RPTOR HGNC ENSG00000141564 19 0 0.00 15 4 21.05 - - - SMAD5-AS1 0 genome.wustl.edu 37 5 135469527 135469527 + RNA SNP T T G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 5 135469527 135469527 T G SNP SMAD5-AS1 ENST00000297163 human ensembl 69_37n -1 known rna NULL NULL 0.086 - - - no_errors SMAD5-AS1 HGNC ENSG00000164621 107 1 0.93 121 17 12.32 - - - SMYD2 0 genome.wustl.edu 37 1 214500907 214500907 + RNA SNP A A C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 214500907 214500907 A C SNP SMYD2 ENST00000484459 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors SMYD2 HGNC ENSG00000143499 35 0 0.00 31 8 20.00 - - - SSC5D 0 genome.wustl.edu 37 19 56029188 56029188 + Missense_Mutation SNP C C G TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 19 56029188 56029188 C G SNP SSC5D ENST00000389623 human ensembl 69_37n +1 known missense c.3545 p.T1182S 0.002 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 31 0 0.00 42 6 12.50 - - - SSC5D 0 genome.wustl.edu 37 19 56029191 56029191 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 19 56029191 56029191 C T SNP SSC5D ENST00000389623 human ensembl 69_37n +1 known missense c.3548 p.T1183M 0.002 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 29 0 0.00 47 6 11.32 - - - STAT2 0 genome.wustl.edu 37 12 56742755 56742755 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 12 56742755 56742755 C T SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known missense c.1529 p.R510Q 0.909 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 20 0 0.00 9 3 25.00 - - - SVOPL 0 genome.wustl.edu 37 7 138279228 138279228 + RNA SNP A A T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 7 138279228 138279228 A T SNP SVOPL ENST00000463557 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SVOPL HGNC ENSG00000157703 34 0 0.00 33 14 29.79 - - - SYNE1 0 genome.wustl.edu 37 6 152472750 152472750 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 6 152472750 152472750 G T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.24388 p.Q8130K 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 28 0 0.00 28 4 12.12 - - - SYS1 0 genome.wustl.edu 37 20 43996012 43996012 + RNA SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 20 43996012 43996012 G T SNP SYS1 ENST00000479779 human ensembl 69_37n +1 known rna NULL NULL 0.997 - - - no_errors SYS1 HGNC ENSG00000204070 20 0 0.00 18 6 25.00 - - - TBATA 0 genome.wustl.edu 37 10 72532037 72532037 + Missense_Mutation SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 72532037 72532037 C T SNP TBATA ENST00000394982 human ensembl 69_37n -1 known missense c.59 p.R20Q 0.000 NULL NULL - no_start_codon TBATA HGNC ENSG00000166220 50 0 0.00 51 6 10.53 - - - TBC1D20 0 genome.wustl.edu 37 20 417255 417255 + RNA SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 20 417255 417255 G T SNP TBC1D20 ENST00000461188 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 31 0 0.00 27 4 12.90 - - - TIMM17A 0 genome.wustl.edu 37 1 201938995 201938995 + RNA SNP C C T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 201938995 201938995 C T SNP TIMM17A ENST00000482943 human ensembl 69_37n +1 known rna NULL NULL 0.392 - - - no_errors TIMM17A HGNC ENSG00000134375 43 0 0.00 49 7 12.50 - - - TLK2 0 genome.wustl.edu 37 17 60663562 60663562 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 17 60663562 60663562 G T SNP TLK2 ENST00000326270 human ensembl 69_37n +1 known missense c.1501 p.D501Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC ENSG00000146872 23 0 0.00 27 4 12.90 - - - TNFRSF1B 0 genome.wustl.edu 37 1 12268499 12268499 + RNA SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 1 12268499 12268499 G A SNP TNFRSF1B ENST00000492361 human ensembl 69_37n +1 known rna NULL NULL 0.015 - - - no_errors TNFRSF1B HGNC ENSG00000028137 18 0 0.00 9 3 25.00 - - - TPO 0 genome.wustl.edu 37 2 1544617 1544617 + Missense_Mutation SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 2 1544617 1544617 G A SNP TPO ENST00000422464 human ensembl 69_37n +1 novel missense c.2525 p.R842H 0.000 NULL pfam_Haem_peroxidase_animal,pfam_Sushi_SCR_CCP,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_Haem_peroxidase_animal_subgr,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal - no_start_codon TPO HGNC ENSG00000115705 39 0 0.00 37 5 11.90 - - - TSEN2 0 genome.wustl.edu 37 3 12560583 12560583 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 12560583 12560583 G T SNP TSEN2 ENST00000284995 human ensembl 69_37n +1 known missense c.986 p.W329L 1.000 pfam_tRNA_intron_Endonuc_N,pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 43 0 0.00 44 5 10.20 - - - TTC40 0 genome.wustl.edu 37 10 134698626 134698626 + Missense_Mutation SNP T T C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 10 134698626 134698626 T C SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known missense c.3608 p.N1203S 0.109 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 26 0 0.00 43 5 10.42 - - - TYRO3 0 genome.wustl.edu 37 15 41865525 41865525 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 15 41865525 41865525 G T SNP TYRO3 ENST00000263798 human ensembl 69_37n +1 known missense c.2005 p.V669L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 25 0 0.00 35 6 14.63 - - - UBE3D 0 genome.wustl.edu 37 6 83732240 83732240 + Missense_Mutation SNP G G T TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 6 83732240 83732240 G T SNP UBE3D ENST00000369747 human ensembl 69_37n -1 known missense c.778 p.Q260K 1.000 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 17 0 0.00 11 4 25.00 - - - ZNF860 0 genome.wustl.edu 37 3 32031615 32031615 + Missense_Mutation SNP A A C TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 3 32031615 32031615 A C SNP ZNF860 ENST00000360311 human ensembl 69_37n +1 known missense c.1044 p.E348D 0.632 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 51 0 0.00 62 8 11.43 - - - ZNRD1-AS1 0 genome.wustl.edu 37 6 30025179 30025179 + RNA SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 6 30025179 30025179 G A SNP ZNRD1-AS1 ENST00000421692 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 40 0 0.00 47 7 12.73 - - - ZRSR1 0 genome.wustl.edu 37 5 112228667 112228667 + Missense_Mutation SNP G G A TCGA-AC-A2QJ-01A-12D-A19Y-09 TCGA-AC-A2QJ-11A-12D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 140d1805-5e93-4c7f-8492-adbfec23b0bb d32c7909-42f1-4654-aa3e-0bff663b42de 5 112228667 112228667 G A SNP ZRSR1 ENST00000391338 human ensembl 69_37n +1 known missense c.1331 p.S444N 0.204 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 64 0 0.00 52 8 13.33 - - -