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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val OR7A17 0 genome.wustl.edu 37 19 14992099 14992099 + Missense_Mutation SNP C C A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 19 14992099 14992099 C A SNP OR7A17 ENST00000327462 human ensembl 74_37 -1 known missense c.69 p.L23F 0.184 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 tier1 - - 70 0 0.00 18 84 82.35 61 0 0.00 20 61 75.31 CCDC178 0 genome.wustl.edu 37 18 30517983 30517983 + Missense_Mutation SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 18 30517983 30517983 C T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2668 p.D890N 0.943 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 rs200567065 GMAF=0.0005 48 0 0.00 31 9 22.50 89 0 0.00 81 36 30.77 MEFV 0 genome.wustl.edu 37 16 3298968 3298968 + Silent SNP G G A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 16 3298968 3298968 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.1297 p.L433 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 - - 25 0 0.00 10 10 50.00 81 0 0.00 17 29 63.04 C8orf12 0 genome.wustl.edu 37 8 11295631 11295631 + Missense_Mutation SNP G G T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 8 11295631 11295631 G T SNP C8orf12 ENST00000284481 human ensembl 74_37 +1 known missense c.120 p.E40D 0.001 NULL NULL - no_errors C8orf12 HGNC ENSG00000184608 tier1 - - 63 0 0.00 69 16 18.82 64 0 0.00 72 15 17.24 ZNF831 0 genome.wustl.edu 37 20 57829601 57829601 + Missense_Mutation SNP A A T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 20 57829601 57829601 A T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.4837 p.R1613W 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 19 0 0.00 31 11 26.19 99 0 0.00 121 21 14.79 KIF1B 0 genome.wustl.edu 37 1 10383993 10383993 + Missense_Mutation SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 10383993 10383993 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.2272 p.P758S 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 55 0 0.00 55 19 25.68 101 0 0.00 115 23 16.67 B3GNT3 0 genome.wustl.edu 37 19 17918638 17918638 + Silent SNP C C A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 19 17918638 17918638 C A SNP B3GNT3 ENST00000318683 human ensembl 74_37 +1 known silent c.22 p.R8 0.001 NULL pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 tier1 - - 66 0 0.00 80 12 13.04 20 0 0.00 40 5 11.11 BSN 0 genome.wustl.edu 37 3 49700331 49700331 + Missense_Mutation SNP G G T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 3 49700331 49700331 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.10740 p.E3580D 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 92 0 0.00 43 27 38.57 82 0 0.00 49 19 27.94 VEZT 0 genome.wustl.edu 37 12 95694454 95694454 + R SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 12 95694454 95694454 C T SNP VEZT ENST00000356859 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors VEZT HGNC ENSG00000028203 tier1 - - 52 0 0.00 26 19 42.22 82 0 0.00 27 23 46.00 BCL9 0 genome.wustl.edu 37 1 147084929 147084929 + Nonsense_Mutation SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 147084929 147084929 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known nonsense c.301 p.R101* 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 91 0 0.00 106 19 15.20 88 0 0.00 93 12 11.43 PHRF1 0 genome.wustl.edu 37 11 610995 610995 + Missense_Mutation SNP G G C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 11 610995 610995 G C SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.4719 p.E1573D 1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 59 0 0.00 22 21 48.84 63 0 0.00 27 22 44.90 OR1E2 0 genome.wustl.edu 37 17 3336989 3336989 + Missense_Mutation SNP A A C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 17 3336989 3336989 A C SNP OR1E2 ENST00000248384 human ensembl 74_37 -1 known missense c.147 p.I49M 0.039 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E2 HGNC ENSG00000127780 tier1 - - 98 0 0.00 25 89 78.07 53 0 0.00 19 52 73.24 FAM98A 0 genome.wustl.edu 37 2 33812338 33812338 + Nonsense_Mutation SNP A A C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 2 33812338 33812338 A C SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known nonsense c.572 p.L191* 0.890 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 tier1 - - 41 0 0.00 21 25 54.35 135 0 0.00 65 84 56.38 ENSG00000271894 0 genome.wustl.edu 37 2 56612793 56612793 + R SNP G G C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 2 56612793 56612793 G C SNP ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 - - 31 0 0.00 57 6 9.38 100 0 0.00 127 16 11.19 NUP133 0 genome.wustl.edu 37 1 229606361 229606361 + Missense_Mutation SNP G G C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 229606361 229606361 G C SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.2042 p.S681C 0.002 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 tier1 - - 68 0 0.00 35 14 28.00 108 0 0.00 52 25 32.47 DPEP1 0 genome.wustl.edu 37 16 89703959 89703959 + Silent SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 16 89703959 89703959 C T SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known silent c.852 p.A284 0.955 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 tier1 rs142226072 - 32 0 0.00 20 10 33.33 66 0 0.00 47 21 30.43 CHAF1A 0 genome.wustl.edu 37 19 4433417 4433417 + Missense_Mutation SNP G G C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 19 4433417 4433417 G C SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.2554 p.D852H 1.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 tier1 - - 44 0 0.00 38 16 29.63 35 0 0.00 24 20 45.45 MTMR9LP 0 genome.wustl.edu 37 1 32706857 32706857 + R SNP A A T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 32706857 32706857 A T SNP MTMR9LP ENST00000441044 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR9LP HGNC ENSG00000220785 tier1 - - 77 0 0.00 89 19 17.59 40 0 0.00 59 10 14.29 ELN 0 genome.wustl.edu 37 7 73471034 73471034 + Missense_Mutation SNP G G A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 7 73471034 73471034 G A SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.1348 p.A450T 0.997 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 65 0 0.00 44 11 20.00 36 0 0.00 27 6 18.18 TMPRSS9 0 genome.wustl.edu 37 19 2396405 2396405 + R SNP A A G TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 19 2396405 2396405 A G SNP TMPRSS9 ENST00000592650 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 33 0 0.00 23 8 25.81 37 0 0.00 37 12 24.49 TRIM40 0 genome.wustl.edu 37 6 30104709 30104709 + R SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 6 30104709 30104709 C T SNP TRIM40 ENST00000489892 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM40 HGNC ENSG00000204614 tier1 - - 14 0 0.00 9 4 30.77 59 0 0.00 20 14 41.18 N4BP2 0 genome.wustl.edu 37 4 40108621 40108621 + Missense_Mutation SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 4 40108621 40108621 C T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.1475 p.A492V 1.000 superfamily_P-loop_NTPase pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 - - 73 0 0.00 53 55 50.93 101 0 0.00 61 52 46.02 ACTC1 0 genome.wustl.edu 37 15 35083451 35083451 + Missense_Mutation SNP A A C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 15 35083451 35083451 A C SNP ACTC1 ENST00000290378 human ensembl 74_37 -1 known missense c.854 p.M285R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTC1 HGNC ENSG00000159251 tier1 - - 49 0 0.00 36 7 16.28 36 0 0.00 26 13 33.33 UXT 0 genome.wustl.edu 37 X 47511493 47511493 + Missense_Mutation SNP T T G TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 X 47511493 47511493 T G SNP UXT ENST00000335890 human ensembl 74_37 -1 known missense c.443 p.H148P 1.000 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC ENSG00000126756 tier1 - - 73 0 0.00 53 43 44.79 108 0 0.00 82 71 46.41 PRDM11 0 genome.wustl.edu 37 11 45117420 45117420 + Missense_Mutation SNP T T A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 11 45117420 45117420 T A SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.64 p.C22S 0.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 tier1 - - 39 0 0.00 22 19 46.34 61 0 0.00 45 39 46.43 NTN1 0 genome.wustl.edu 37 17 9083207 9083207 + Missense_Mutation SNP G G C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 17 9083207 9083207 G C SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.1291 p.G431R 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 tier1 - - 48 0 0.00 54 9 14.29 46 0 0.00 52 8 13.33 HTR1E 0 genome.wustl.edu 37 6 87725415 87725415 + Silent SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 6 87725415 87725415 C T SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known silent c.363 p.Y121 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 33 0 0.00 19 8 29.63 69 0 0.00 59 18 23.38 DAND5 0 genome.wustl.edu 37 19 13084213 13084213 + Missense_Mutation SNP G G C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 19 13084213 13084213 G C SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known missense c.335 p.R112P 0.009 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 tier1 - - 22 0 0.00 28 8 22.22 68 0 0.00 69 22 23.91 IRF6 0 genome.wustl.edu 37 1 209969876 209969876 + Nonsense_Mutation SNP T T A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 209969876 209969876 T A SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known nonsense c.196 p.K66* 1.000 pfam_Interferon_reg_fact_D-bd_dom,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF6 HGNC ENSG00000117595 tier1 - - 40 0 0.00 29 14 32.56 73 0 0.00 45 16 26.23 MACF1 0 genome.wustl.edu 37 1 39888564 39888564 + Nonsense_Mutation SNP G G T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 39888564 39888564 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.9955 p.E3319* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 54 0 0.00 41 13 24.07 144 0 0.00 156 39 20.00 FCER1A 0 genome.wustl.edu 37 1 159277654 159277654 + Missense_Mutation SNP A A G TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 1 159277654 159277654 A G SNP FCER1A ENST00000368115 human ensembl 74_37 +1 known missense c.706 p.I236V 0.106 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCER1A HGNC ENSG00000179639 tier1 - - 67 0 0.00 39 52 57.14 91 0 0.00 67 75 52.82 FAM20A 0 genome.wustl.edu 37 17 66537102 66537103 + R DEL GA GA - TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 GA GA GA - GA GA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 17 66537102 66537103 GA - DEL FAM20A ENST00000226094 human ensembl 74_37 -1 known rna NULL NULL 0.997:0.815 - - - no_errors FAM20A HGNC ENSG00000108950 tier1 51 0 0.00 49 27 35.53 61 0 0.00 42 35 45.45 ZNF736 0 genome.wustl.edu 37 7 63808779 63808780 + Frame_Shift_Del DEL AA AA - TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 7 63808779 63808780 AA - DEL ZNF736 ENST00000355095 human ensembl 74_37 +1 known frame_shift_del c.538_539 p.K180fs 0.997:0.991 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 ZNF736 HGNC ENSG00000234444 tier1 47 0 0.00 43 6 12.24 9 0 0.00 17 3 15.00 SPTBN5 0 genome.wustl.edu 37 15 42153620 42153622 + In_Frame_Del DEL TAG TAG - TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 TAG TAG TAG - TAG TAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 15 42153620 42153622 TAG - DEL SPTBN5 ENST00000320955 human ensembl 74_37 -1 known in_frame_del c.7812_7810 p.L2604in_frame_del 0.010:0.006:0.003 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 49 0 0.00 43 24 35.82 139 0 0.00 67 45 40.18 PNPT1 0 genome.wustl.edu 37 2 55882064 55882064 + Frame_Shift_Del DEL C C - TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 2 55882064 55882064 C - DEL PNPT1 ENST00000415374 human ensembl 74_37 -1 known frame_shift_del c.1466 p.C489fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_R-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_R-bd_bac/org-type,superfamily_-bd_OB-fold,smart_KH_dom,smart_R-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_R-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 tier1 44 0 0.00 48 11 18.64 44 0 0.00 65 17 20.73 TP53 0 genome.wustl.edu 37 17 7578284 7578284 + Frame_Shift_Del DEL C C - TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 17 7578284 7578284 C - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.565 p.A189fs 0.997 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 78 0 0.00 18 59 76.62 78 0 0.00 35 71 66.98 CHERP 0 genome.wustl.edu 37 19 16643459 16643459 + Silent SNP G G A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 19 16643459 16643459 G A SNP CHERP ENST00000546361 human ensembl 74_37 -1 known silent c.624 p.F208 0.700 superfamily_ENTH_VHS pfam_Surp,pfam_G_patch_dom,pfam_R_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 - - 130 0 0.00 37 161 80.90 34 0 0.00 5 28 84.85 LOC645752 0 genome.wustl.edu 37 15 78208175 78208175 + R SNP C C A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 15 78208175 78208175 C A SNP LOC645752 ENST00000563349 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 159 0 0.00 119 47 28.31 9 0 0.00 7 3 30.00 PLXNB3 0 genome.wustl.edu 37 X 153044436 153044436 + Missense_Mutation SNP T T A TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 X 153044436 153044436 T A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5741 p.L1914Q 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 tier1 - - 74 0 0.00 52 34 39.53 5 0 0.00 3 9 75.00 MYO15A 0 genome.wustl.edu 37 17 18082113 18082113 + Missense_Mutation SNP C C T TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 17 18082113 18082113 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.10522 p.H3508Y 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 38 0 0.00 53 17 24.29 42 1 2.33 75 15 16.67 PTMA 0 genome.wustl.edu 37 2 232577666 232577666 + R SNP A A G TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 2 232577666 232577666 A G SNP PTMA ENST00000466801 human ensembl 74_37 +1 known rna NULL NULL 0.836 - - - no_errors PTMA HGNC ENSG00000187514 tier1 - - 60 0 0.00 35 6 14.63 7 0 0.00 4 0 0.00 ANKRD30BP2 0 genome.wustl.edu 37 21 14424331 14424331 + R SNP T T C TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 21 14424331 14424331 T C SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.095 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 153 0 0.00 117 32 21.48 0 0 0.00 0 1 100.00 TPRXL 0 genome.wustl.edu 37 3 14105925 14105927 + In_Frame_Del DEL CAG CAG - TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 3 14105925 14105927 CAG - DEL TPRXL ENST00000326972 human ensembl 74_37 +1 known in_frame_del c.249_251 p.S87in_frame_del 0.252:0.271:0.284 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 34 0 0.00 27 4 12.90 2 0 0.00 5 0 0.00 VDAC1 0 genome.wustl.edu 37 5 133308469 133308469 + Missense_Mutation SNP T T G TCGA-N1-A6IA-01A-12D-A32I-09 TCGA-N1-A6IA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26f94549-f63a-4c0f-8c70-0341ea0f528f 29f71321-1ce9-42d2-8923-7528a4bff739 5 133308469 133308469 T G SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known missense c.845 p.Q282P 1.000 NULL pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 tier1 - - 43 0 0.00 45 6 11.76 0 0 0.00 0 0 0.00