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 OR5T2 0 genome.wustl.edu 37 11 56000184 56000184 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 11 56000184 56000184 C A SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.478 p.D160Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 64 0 0.00 36 11 23.40 62 0 0.00 18 9 33.33 ZNF282 0 genome.wustl.edu 37 7 148921432 148921432 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 148921432 148921432 G T SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.1709 p.G570V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 tier1 - - 49 0 0.00 61 12 16.44 25 0 0.00 34 4 10.53 PCDHA11 0 genome.wustl.edu 37 5 140248722 140248722 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 5 140248722 140248722 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.34 p.P12S 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 79 0 0.00 90 22 19.64 130 0 0.00 97 31 24.22 MYCBP2 0 genome.wustl.edu 37 13 77798600 77798600 + Silent SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 13 77798600 77798600 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.2925 p.G975 0.999 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold,pfscan_Reg_chr_condens pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 57 0 0.00 27 18 40.00 85 0 0.00 40 21 34.43 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862982 10862982 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 21 10862982 10862982 C A SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.278 p.T93K 0.243 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 185 0 0.00 99 35 26.12 52 0 0.00 19 8 29.63 PAPPA2 0 genome.wustl.edu 37 1 176526055 176526055 + Silent SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 176526055 176526055 C A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.597 p.R199 0.001 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 39 0 0.00 28 5 15.15 98 0 0.00 75 18 19.35 FAM213B 0 genome.wustl.edu 37 1 2520961 2520961 + R SNP G G C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 2520961 2520961 G C SNP FAM213B ENST00000464043 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors FAM213B HGNC ENSG00000157870 tier1 - - 9 0 0.00 26 8 23.53 74 0 0.00 121 17 12.32 PLEKHG2 0 genome.wustl.edu 37 19 39915497 39915497 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 39915497 39915497 G T SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.3724 p.G1242C 0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 tier1 - - 39 0 0.00 53 12 18.46 108 0 0.00 84 19 18.45 EPHA8 0 genome.wustl.edu 37 1 22903293 22903293 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 22903293 22903293 G A SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.743 p.S248N 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 - - 77 0 0.00 94 9 8.74 29 0 0.00 16 4 20.00 SMIM9 0 genome.wustl.edu 37 X 154057855 154057855 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a X 154057855 154057855 G T SNP SMIM9 ENST00000369529 human ensembl 74_37 -1 known missense c.227 p.A76D 0.002 NULL NULL - no_errors SMIM9 HGNC ENSG00000203870 tier1 - - 41 0 0.00 29 10 25.64 69 0 0.00 30 12 28.57 CCDC27 0 genome.wustl.edu 37 1 3679854 3679854 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 3679854 3679854 C A SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known missense c.1137 p.D379E 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 tier1 - - 59 0 0.00 65 10 13.33 79 0 0.00 88 28 24.14 GABRA2 0 genome.wustl.edu 37 4 46305540 46305540 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 4 46305540 46305540 C T SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.628 p.V210I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 77 0 0.00 68 29 29.90 117 0 0.00 86 17 16.50 OR2M3 0 genome.wustl.edu 37 1 248367058 248367058 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 248367058 248367058 C T SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.689 p.S230F 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 tier1 - - 97 0 0.00 84 24 22.22 26 0 0.00 24 7 22.58 ASMT 0 genome.wustl.edu 37 X 1746870 1746870 + R SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a X 1746870 1746870 G A SNP ASMT ENST00000509780 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ASMT HGNC ENSG00000196433 tier1 - - 24 0 0.00 31 25 44.64 107 1 0.93 80 41 33.88 KIAA0947 0 genome.wustl.edu 37 5 5463531 5463531 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 5 5463531 5463531 G T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4084 p.D1362Y 0.001 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 67 0 0.00 97 13 11.82 71 0 0.00 124 32 20.51 RHPN2 0 genome.wustl.edu 37 19 33498977 33498977 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 33498977 33498977 C T SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.703 p.D235N 0.149 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 tier1 - - 101 0 0.00 133 30 18.40 2 0 0.00 13 3 18.75 CDK13 0 genome.wustl.edu 37 7 40127771 40127771 + Nonsense_Mutation SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 40127771 40127771 A T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known nonsense c.3076 p.R1026* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors CDK13 HGNC ENSG00000065883 tier1 - - 36 0 0.00 16 10 38.46 64 0 0.00 49 25 33.78 DMXL1 0 genome.wustl.edu 37 5 118469962 118469962 + Splice_Site SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 5 118469962 118469962 G T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known splice_site c.2255-1 e13-1 1.000 - - - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 40 0 0.00 23 14 37.84 61 0 0.00 47 17 26.56 C16orf96 0 genome.wustl.edu 37 16 4626242 4626242 + Silent SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 16 4626242 4626242 G A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known silent c.1761 p.Q587 0.001 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 59 0 0.00 66 25 27.47 39 0 0.00 28 6 17.65 PPAP2C 0 genome.wustl.edu 37 19 288083 288083 + Nonsense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 288083 288083 G T SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known nonsense c.204 p.Y68* 0.865 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 tier1 - - 177 0 0.00 136 37 21.39 109 0 0.00 86 25 22.52 ZNF890P 0 genome.wustl.edu 37 7 5161807 5161807 + R SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 5161807 5161807 C T SNP ZNF890P ENST00000422060 human ensembl 74_37 -1 known rna NULL NULL 0.177 - - - no_errors ZNF890P HGNC ENSG00000159904 tier1 - - 50 0 0.00 28 9 24.32 63 1 1.56 41 13 24.07 ANKRD30B 0 genome.wustl.edu 37 18 14779966 14779966 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 18 14779966 14779966 G A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.1428 p.M476I 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 100 0 0.00 86 22 20.37 56 0 0.00 30 12 28.57 PCSK9 0 genome.wustl.edu 37 1 55521749 55521749 + Missense_Mutation SNP C C G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 55521749 55521749 C G SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.883 p.R295G 0.996 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 tier1 - - 51 0 0.00 159 14 8.09 3 0 0.00 23 3 11.54 PCDHA10 0 genome.wustl.edu 37 5 140236983 140236983 + Silent SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 5 140236983 140236983 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1350 p.N450 0.906 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 156 1 0.64 111 86 43.65 39 0 0.00 40 22 35.48 ST6GALC3 0 genome.wustl.edu 37 1 77042702 77042702 + R SNP G G C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 77042702 77042702 G C SNP ST6GALC3 ENST00000464140 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ST6GALC3 HGNC ENSG00000184005 tier1 - - 10 0 0.00 42 14 25.00 156 0 0.00 626 214 25.48 ENSG00000268032 0 genome.wustl.edu 37 19 18142291 18142291 + R SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 18142291 18142291 C A SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 tier1 - - 35 0 0.00 18 8 30.77 45 0 0.00 33 5 13.16 PTH2R 0 genome.wustl.edu 37 2 209358326 209358326 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 209358326 209358326 C T SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.1595 p.P532L 0.122 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 tier1 - - 28 0 0.00 29 5 14.71 88 0 0.00 50 9 15.25 IQGAP1 0 genome.wustl.edu 37 15 91034675 91034675 + Missense_Mutation SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 15 91034675 91034675 A T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4359 p.Q1453H 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 65 0 0.00 73 12 14.12 109 0 0.00 125 32 20.38 RYR3 0 genome.wustl.edu 37 15 34028478 34028478 + Silent SNP C C G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 15 34028478 34028478 C G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.7467 p.L2489 0.286 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 89 0 0.00 63 10 13.70 121 0 0.00 48 12 20.00 D2HGDH 0 genome.wustl.edu 37 2 242688377 242688377 + Silent SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 242688377 242688377 C T SNP D2HGDH ENST00000537090 human ensembl 74_37 +1 known silent c.951 p.L317 0.017 NULL pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors D2HGDH HGNC ENSG00000180902 tier1 - - 22 0 0.00 12 19 61.29 29 0 0.00 14 6 30.00 UTP23 0 genome.wustl.edu 37 8 117798782 117798782 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 8 117798782 117798782 G T SNP UTP23 ENST00000357148 human ensembl 74_37 +1 known missense c.404 p.G135V 0.000 NULL pfam_Fcf1/Utp23 - no_errors UTP23 HGNC ENSG00000147679 tier1 - - 66 0 0.00 51 11 17.74 77 0 0.00 66 8 10.81 MIR3690 0 genome.wustl.edu 37 X 1412870 1412870 + R SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a X 1412870 1412870 A T SNP MIR3690 ENST00000580266 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors MIR3690 HGNC ENSG00000265658 tier1 - - 93 0 0.00 84 18 17.65 16 0 0.00 18 3 14.29 ABCB1 0 genome.wustl.edu 37 7 87174310 87174310 + Silent SNP T T G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 87174310 87174310 T G SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.1893 p.A631 0.089 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 42 0 0.00 31 7 18.42 81 0 0.00 71 14 16.47 CMPK2 0 genome.wustl.edu 37 2 6989960 6989960 + R SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 6989960 6989960 C T SNP CMPK2 ENST00000478738 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CMPK2 HGNC ENSG00000134326 tier1 rs189991705 GMAF=0.0005 52 0 0.00 50 6 10.71 138 0 0.00 113 37 24.50 LPIN2 0 genome.wustl.edu 37 18 2951057 2951057 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 18 2951057 2951057 C A SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.586 p.A196S 0.004 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 tier1 - - 34 0 0.00 61 7 10.14 55 0 0.00 88 10 10.20 PCDH9 0 genome.wustl.edu 37 13 66879148 66879148 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 13 66879148 66879148 C A SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3353 p.G1118V 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 33 0 0.00 12 4 25.00 91 0 0.00 43 21 32.81 NOS1 0 genome.wustl.edu 37 12 117768198 117768198 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 12 117768198 117768198 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.677 p.G226E 0.926 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 32 0 0.00 25 6 19.35 81 0 0.00 66 16 19.51 CDCA3 0 genome.wustl.edu 37 12 6959716 6959716 + Silent SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 12 6959716 6959716 C A SNP CDCA3 ENST00000538862 human ensembl 74_37 -1 known silent c.165 p.L55 0.002 NULL NULL - no_errors CDCA3 HGNC ENSG00000111665 tier1 - - 60 0 0.00 38 14 26.92 149 0 0.00 83 28 25.23 SCN7A 0 genome.wustl.edu 37 2 167313506 167313506 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 167313506 167313506 C A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.1164 p.L388F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 69 0 0.00 28 19 40.43 113 1 0.87 40 20 33.33 PTCHD2 0 genome.wustl.edu 37 1 11577619 11577619 + Missense_Mutation SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 11577619 11577619 A T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.1849 p.S617C 0.998 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 54 0 0.00 66 19 22.35 23 0 0.00 11 5 31.25 BLNK 0 genome.wustl.edu 37 10 97956691 97956691 + Silent SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 10 97956691 97956691 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.1224 p.A408 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 42 0 0.00 31 14 31.11 69 0 0.00 42 18 30.00 GUK1 0 genome.wustl.edu 37 1 228333784 228333784 + R SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 228333784 228333784 C T SNP GUK1 ENST00000470040 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GUK1 HGNC ENSG00000143774 tier1 - - 63 0 0.00 62 18 22.22 65 0 0.00 25 8 24.24 PDLIM2 0 genome.wustl.edu 37 8 22447119 22447119 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 8 22447119 22447119 G A SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1378 p.E460K 0.704 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 tier1 - - 107 0 0.00 59 33 35.87 29 0 0.00 16 7 30.43 OTOGL 0 genome.wustl.edu 37 12 80770909 80770909 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 12 80770909 80770909 G A SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.6761 p.R2254Q 1.000 pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,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 - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 154 0 0.00 103 45 30.41 81 0 0.00 79 40 33.61 EPHA6 0 genome.wustl.edu 37 3 97365050 97365050 + Missense_Mutation SNP G G C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 3 97365050 97365050 G C SNP EPHA6 ENST00000514100 human ensembl 74_37 +1 novel missense c.1048 p.G350R 0.015 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 79 0 0.00 44 12 21.43 89 0 0.00 40 16 28.57 FOXH1 0 genome.wustl.edu 37 8 145700634 145700634 + Missense_Mutation SNP T T G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 8 145700634 145700634 T G SNP FOXH1 ENST00000377317 human ensembl 74_37 -1 known missense c.185 p.Q62P 0.999 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXH1 HGNC ENSG00000160973 tier1 - - 128 0 0.00 137 34 19.77 87 0 0.00 62 14 18.42 INSR 0 genome.wustl.edu 37 19 7267849 7267849 + Silent SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 7267849 7267849 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known silent c.159 p.C53 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 39 0 0.00 31 16 34.04 94 0 0.00 125 22 14.97 HNF1A 0 genome.wustl.edu 37 12 121434799 121434799 + Nonstop_Mutation SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 12 121434799 121434799 A T SNP HNF1A ENST00000543427 human ensembl 74_37 +1 known nonstop c.1212 p.*404C 0.000 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_D-bd_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 62 0 0.00 55 16 22.54 152 0 0.00 89 33 26.83 TLDC2 0 genome.wustl.edu 37 20 35506417 35506417 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 20 35506417 35506417 C T SNP TLDC2 ENST00000217320 human ensembl 74_37 +1 known missense c.149 p.T50I 1.000 NULL pfam_TLDc,smart_TLDc - no_errors TLDC2 HGNC ENSG00000101342 tier1 - - 37 0 0.00 40 19 32.20 43 0 0.00 65 31 32.29 RYR1 0 genome.wustl.edu 37 19 39051993 39051993 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 39051993 39051993 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.12523 p.P4175S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 34 0 0.00 38 25 39.68 39 0 0.00 16 10 38.46 MANEA 0 genome.wustl.edu 37 6 96034835 96034835 + Nonsense_Mutation SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 96034835 96034835 A T SNP MANEA ENST00000358812 human ensembl 74_37 +1 known nonsense c.520 p.R174* 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 - - 134 0 0.00 72 24 25.00 60 0 0.00 22 15 40.54 DEFB113 0 genome.wustl.edu 37 6 49936404 49936404 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 49936404 49936404 G A SNP DEFB113 ENST00000398718 human ensembl 74_37 -1 known missense c.235 p.L79F 0.000 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 tier1 - - 37 0 0.00 47 9 16.07 102 1 0.97 59 19 24.36 DOCK6 0 genome.wustl.edu 37 19 11354301 11354301 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 11354301 11354301 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.1190 p.T397M 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 25 0 0.00 51 11 17.74 19 0 0.00 13 2 13.33 COL1A1 0 genome.wustl.edu 37 17 48271338 48271338 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 17 48271338 48271338 C A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.1733 p.G578V 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 tier1 - - 49 0 0.00 26 19 42.22 45 0 0.00 20 13 39.39 IL4 0 genome.wustl.edu 37 5 132010060 132010060 + R SNP T T A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 5 132010060 132010060 T A SNP IL4 ENST00000495905 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors IL4 HGNC ENSG00000113520 tier1 - - 53 0 0.00 47 16 25.40 117 0 0.00 86 15 14.85 MYB 0 genome.wustl.edu 37 6 135521663 135521663 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 135521663 135521663 G A SNP MYB ENST00000525002 human ensembl 74_37 +1 known missense c.1697 p.R566H 0.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 22 0 0.00 19 5 20.83 106 0 0.00 52 19 26.76 ATP12A 0 genome.wustl.edu 37 13 25283514 25283514 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 13 25283514 25283514 G T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.2524 p.A842S 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 tier1 - - 132 1 0.75 85 32 27.12 87 0 0.00 36 15 29.41 IGSF5 0 genome.wustl.edu 37 21 41137760 41137760 + Silent SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 21 41137760 41137760 T C SNP IGSF5 ENST00000380588 human ensembl 74_37 +1 novel silent c.399 p.S133 0.004 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF5 HGNC ENSG00000183067 tier1 - - 36 0 0.00 26 12 31.58 70 0 0.00 36 10 21.74 TANGO6 0 genome.wustl.edu 37 16 68896912 68896912 + Missense_Mutation SNP A A G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 16 68896912 68896912 A G SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.800 p.Y267C 1.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 - - 37 0 0.00 22 28 56.00 102 0 0.00 48 44 47.83 IARS2 0 genome.wustl.edu 37 1 220273947 220273947 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 220273947 220273947 G T SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.506 p.G169V 0.958 pfam_aa-tR-synth_Ia,pfam_Methionyl/Leucyl_tR_Synth,tigrfam_Ile-tR-ligase pfam_aa-tR-synth_Ia,pfam_V/L/I-tR-synth_anticodon-bd,pfam_Methionyl/Leucyl_tR_Synth,pfam_Znf_D_glyclase/IsotR_synth,superfamily_tRsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tR-synth_edit,prints_Ile-tR-ligase,tigrfam_Ile-tR-ligase - no_errors IARS2 HGNC ENSG00000067704 tier1 - - 114 0 0.00 39 58 59.79 106 0 0.00 53 41 43.62 MIR653 0 genome.wustl.edu 37 7 93112121 93112121 + R SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 93112121 93112121 G A SNP MIR653 ENST00000385279 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors MIR653 HGNC ENSG00000208014 tier1 - - 49 0 0.00 44 9 16.98 112 0 0.00 88 33 26.83 CIB4 0 genome.wustl.edu 37 2 26818157 26818157 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 26818157 26818157 C T SNP CIB4 ENST00000288861 human ensembl 74_37 -1 known missense c.215 p.R72K 0.606 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB4 HGNC ENSG00000157884 tier1 - - 53 0 0.00 46 13 22.03 113 0 0.00 88 21 19.27 DH11 0 genome.wustl.edu 37 7 21784177 21784177 + Missense_Mutation SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 21784177 21784177 T C SNP DH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8297 p.F2766S 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 - - 70 0 0.00 74 12 13.95 103 1 0.95 52 13 20.00 OR5AP2 0 genome.wustl.edu 37 11 56409257 56409257 + Missense_Mutation SNP A A G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 11 56409257 56409257 A G SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.662 p.V221A 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 tier1 - - 60 0 0.00 29 10 25.64 88 0 0.00 29 17 36.96 GRID2IP 0 genome.wustl.edu 37 7 6554123 6554123 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 6554123 6554123 G T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.1306 p.L436M 1.000 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 58 0 0.00 50 10 16.67 84 0 0.00 60 18 23.08 ZNF729 0 genome.wustl.edu 37 19 22498012 22498012 + Missense_Mutation SNP A A C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 22498012 22498012 A C SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1793 p.K598T 0.989 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 ZNF729 HGNC ENSG00000196350 tier1 - - 77 0 0.00 74 17 18.68 36 0 0.00 26 7 21.21 OR2J2 0 genome.wustl.edu 37 6 29141721 29141721 + Silent SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 29141721 29141721 C T SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known silent c.309 p.Y103 0.400 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 tier1 - - 73 0 0.00 44 14 24.14 42 0 0.00 19 5 20.83 TRIML2 0 genome.wustl.edu 37 4 189026036 189026036 + Silent SNP A A T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 4 189026036 189026036 A T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known silent c.90 p.A30 0.211 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 60 0 0.00 11 23 67.65 81 0 0.00 29 48 62.34 PPP1R12B 0 genome.wustl.edu 37 1 202385935 202385935 + Silent SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 202385935 202385935 G A SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known silent c.312 p.L104 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 81 0 0.00 63 17 21.25 66 0 0.00 59 15 20.27 OR1S2 0 genome.wustl.edu 37 11 57971208 57971208 + Missense_Mutation SNP A A C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 11 57971208 57971208 A C SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known missense c.446 p.M149R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 tier1 - - 89 0 0.00 45 16 26.23 75 1 1.32 55 7 11.29 TP53 0 genome.wustl.edu 37 17 7577551 7577551 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 17 7577551 7577551 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.730 p.G244S 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor 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 - - 51 0 0.00 18 67 78.82 91 0 0.00 22 86 78.90 DHRS2 0 genome.wustl.edu 37 14 24113363 24113363 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 14 24113363 24113363 C A SNP DHRS2 ENST00000344777 human ensembl 74_37 +1 known missense c.532 p.P178T 0.004 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_ADH_insect pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS2 HGNC ENSG00000100867 tier1 - - 55 0 0.00 38 42 52.50 144 0 0.00 47 78 62.40 TCHHL1 0 genome.wustl.edu 37 1 152058678 152058678 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 152058678 152058678 C T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1480 p.G494R 0.002 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 38 0 0.00 29 25 46.30 119 0 0.00 85 40 32.00 ADAMTSL3 0 genome.wustl.edu 37 15 84611408 84611408 + Silent SNP A A G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 15 84611408 84611408 A G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2178 p.R726 0.103 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 56 0 0.00 51 10 16.39 61 0 0.00 41 7 14.29 SLC25A25 0 genome.wustl.edu 37 9 130863607 130863607 + Missense_Mutation SNP G G C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 9 130863607 130863607 G C SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known missense c.408 p.E136D 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 tier1 - - 70 0 0.00 47 22 31.88 42 0 0.00 24 11 31.43 TRPM8 0 genome.wustl.edu 37 2 234894490 234894490 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 234894490 234894490 C A SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.2920 p.L974M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 - - 46 0 0.00 33 11 25.00 106 0 0.00 77 27 25.96 ZBTB7C 0 genome.wustl.edu 37 18 45566623 45566623 + Missense_Mutation SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 18 45566623 45566623 T C SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known missense c.856 p.N286D 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 tier1 - - 49 0 0.00 23 13 35.14 19 0 0.00 13 7 35.00 NOTCH4 0 genome.wustl.edu 37 6 32188548 32188548 + Missense_Mutation SNP G G C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 32188548 32188548 G C SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.907 p.P303A 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 78 0 0.00 47 43 47.78 78 0 0.00 41 31 42.47 ATP8A1 0 genome.wustl.edu 37 4 42445682 42445682 + Missense_Mutation SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 4 42445682 42445682 T C SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.3023 p.H1008R 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 106 0 0.00 108 17 13.60 134 0 0.00 82 28 25.45 ENSG00000245330 0 genome.wustl.edu 37 8 120886034 120886034 + R SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 8 120886034 120886034 C T SNP ENSG00000245330 ENST00000500705 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors KB-1471A8.1 Clone_based_vega_gene ENSG00000245330 tier1 - - 119 0 0.00 68 64 48.48 34 0 0.00 15 8 34.78 CAC1F 0 genome.wustl.edu 37 X 49067930 49067930 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a X 49067930 49067930 C A SNP CAC1F ENST00000376265 human ensembl 74_37 -1 known missense c.4145 p.G1382V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1F HGNC ENSG00000102001 tier1 - - 32 0 0.00 38 6 13.64 39 0 0.00 54 8 12.90 TGM5 0 genome.wustl.edu 37 15 43552427 43552427 + Missense_Mutation SNP G G T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 15 43552427 43552427 G T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.259 p.P87T 0.001 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 tier1 - - 40 0 0.00 41 6 12.77 48 0 0.00 25 7 21.88 SH3D19 0 genome.wustl.edu 37 4 152097706 152097706 + R SNP A A C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 4 152097706 152097706 A C SNP SH3D19 ENST00000604030 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SH3D19 HGNC ENSG00000109686 tier1 - - 46 0 0.00 37 14 27.45 85 0 0.00 79 22 21.78 C3 0 genome.wustl.edu 37 19 6684798 6684798 + Missense_Mutation SNP T T A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 6684798 6684798 T A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.4017 p.Q1339H 1.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 61 0 0.00 67 7 9.33 130 0 0.00 153 28 15.47 NOTCH4 0 genome.wustl.edu 37 6 32188547 32188547 + Frame_Shift_Del DEL G G - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 32188547 32188547 G - DEL NOTCH4 ENST00000375023 human ensembl 74_37 -1 known frame_shift_del c.908 p.P303fs 0.983 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 78 0 0.00 45 43 48.86 76 0 0.00 44 29 39.73 NUDT7 0 genome.wustl.edu 37 16 77775652 77775652 + Frame_Shift_Del DEL C C - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 16 77775652 77775652 C - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.522 p.F175fs 0.625 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 tier1 72 0 0.00 48 39 44.83 107 0 0.00 49 31 38.75 ATRX 0 genome.wustl.edu 37 X 76889149 76889159 + Frame_Shift_Del DEL TGCTGAAATCC TGCTGAAATCC - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 TGCTGAAATCC TGCTGAAATCC TGCTGAAATCC - TGCTGAAATCC TGCTGAAATCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a X 76889149 76889159 TGCTGAAATCC - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.4861_4851 p.D1618fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 48 0 0.00 15 11 42.31 48 0 0.00 15 11 42.31 MOV10 0 genome.wustl.edu 37 1 113217542 113217542 + Frame_Shift_Del DEL G G - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 113217542 113217542 G - DEL MOV10 ENST00000357443 human ensembl 74_37 +1 known frame_shift_del c.8 p.S3fs 0.938 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 102 0 0.00 50 16 24.24 37 0 0.00 20 3 13.04 DUSP5 0 genome.wustl.edu 37 10 112270097 112270097 + Frame_Shift_Del DEL C C - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 10 112270097 112270097 C - DEL DUSP5 ENST00000369583 human ensembl 74_37 +1 known frame_shift_del c.1068 p.P357fs 1.000 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 tier1 27 0 0.00 14 6 30.00 44 0 0.00 14 10 41.67 RBMXL2 0 genome.wustl.edu 37 11 7110702 7110702 + Silent SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 11 7110702 7110702 C A SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.351 p.G117 0.716 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 16 0 0.00 7 5 41.67 14 0 0.00 6 5 45.45 SIGLEC9 0 genome.wustl.edu 37 19 51629011 51629011 + Silent SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 51629011 51629011 C A SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known silent c.579 p.T193 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 tier1 - - 56 0 0.00 29 42 56.76 8 0 0.00 5 9 64.29 TBKBP1 0 genome.wustl.edu 37 17 45787898 45787898 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 17 45787898 45787898 G A SNP TBKBP1 ENST00000361722 human ensembl 74_37 +1 known missense c.1754 p.S585N 1.000 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 tier1 - - 71 0 0.00 11 41 78.85 53 0 0.00 9 8 47.06 HYAL4 0 genome.wustl.edu 37 7 123516947 123516947 + Missense_Mutation SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 123516947 123516947 C T SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.1184 p.P395L 0.001 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 tier1 rs141828412 GMAF=0.0005 112 0 0.00 122 13 9.56 149 0 0.00 136 11 7.48 TXNRD2 0 genome.wustl.edu 37 22 19907112 19907112 + Silent SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 22 19907112 19907112 C A SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known silent c.180 p.L60 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,pfam_GIDA-rel,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/D-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 tier1 - - 89 0 0.00 82 13 13.68 63 0 0.00 64 6 8.45 APOB 0 genome.wustl.edu 37 2 21234165 21234165 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 21234165 21234165 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.5575 p.V1859F 0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 57 0 0.00 79 10 11.24 84 1 1.16 74 6 7.50 KIAA0825 0 genome.wustl.edu 37 5 93752974 93752974 + Missense_Mutation SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 5 93752974 93752974 G A SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known missense c.2594 p.T865I 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 tier1 - - 79 0 0.00 35 5 12.50 156 0 0.00 79 6 6.98 DH11 0 genome.wustl.edu 37 7 21788227 21788227 + Missense_Mutation SNP C C A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 7 21788227 21788227 C A SNP DH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8561 p.P2854H 0.972 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 - - 51 0 0.00 36 5 12.20 74 0 0.00 61 5 7.58 SLC47A2 0 genome.wustl.edu 37 17 19611114 19611114 + Silent SNP G G A TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 17 19611114 19611114 G A SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known silent c.780 p.T260 0.000 tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 tier1 - - 47 0 0.00 114 17 12.98 87 0 0.00 211 16 7.05 LIMCH1 0 genome.wustl.edu 37 4 41607964 41607964 + Silent SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 4 41607964 41607964 C T SNP LIMCH1 ENST00000313860 human ensembl 74_37 +1 known silent c.429 p.Y143 0.901 superfamily_CH-domain pfam_CH-domain,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_SM22_calponin,prints_Calponin - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 55 0 0.00 59 10 14.49 138 1 0.71 91 9 9.00 TJAP1 0 genome.wustl.edu 37 6 43470514 43470528 + R DEL AGGAGAGAGGTGGGG AGGAGAGAGGTGGGG - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 AGGAGAGAGGTGGGG AGGAGAGAGGTGGGG AGGAGAGAGGTGGGG - AGGAGAGAGGTGGGG AGGAGAGAGGTGGGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 6 43470514 43470528 AGGAGAGAGGTGGGG - DEL TJAP1 ENST00000483640 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.010:0.002:0.000:0.000:0.001:0.001:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors TJAP1 HGNC ENSG00000137221 tier1 119 0 0.00 97 9 8.49 119 0 0.00 97 9 8.49 ENSG00000224631 0 genome.wustl.edu 37 16 61089587 61089587 + R SNP T T G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 16 61089587 61089587 T G SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 32 0 0.00 22 7 23.33 10 0 0.00 5 0 0.00 IVL 0 genome.wustl.edu 37 1 152883319 152883319 + Missense_Mutation SNP A A G TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 152883319 152883319 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.1046 p.Q349R 0.063 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 89 0 0.00 82 9 9.89 11 0 0.00 5 0 0.00 RBMX 0 genome.wustl.edu 37 X 135961586 135961588 + Frame_Shift_Del DEL TGT TGT - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a X 135961586 135961588 TGT - DEL RBMX ENST00000320676 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 tier1 17 0 0.00 15 2 11.76 8 0 0.00 6 0 0.00 SIGLEC16 0 genome.wustl.edu 37 19 50472930 50472930 + R SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 50472930 50472930 C T SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC ENSG00000161643 tier1 - - 27 0 0.00 23 4 14.81 7 0 0.00 2 0 0.00 ENSG00000230615 0 genome.wustl.edu 37 1 44569970 44569971 + R INS - - GCTTCTCCTGGCCCAGAGTCTCCAGCTGCCGCC TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 44569970 44569971 - GCTTCTCCTGGCCCAGAGTCTCCAGCTGCCGCC INS ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.999 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 tier1 3 0 0.00 0 0 0.00 3 0 0.00 0 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143196624 143196624 + R SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 143196624 143196624 C T SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 76 0 0.00 51 24 32.00 1 0 0.00 1 0 0.00 EOMES 0 genome.wustl.edu 37 3 27763427 27763428 + In_Frame_Ins INS - - CGGCGC TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 3 27763427 27763428 - CGGCGC INS EOMES ENST00000449599 human ensembl 74_37 -1 known in_frame_ins c.359_358 p.120in_frame_insGA 0.116:0.075 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 1 0 0.00 3 0 0.00 1 0 0.00 3 0 0.00 SPEG 0 genome.wustl.edu 37 2 220330645 220330646 + R DEL GC GC - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 2 220330645 220330646 GC - DEL SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.015:0.006 - - - no_errors SPEG HGNC ENSG00000072195 tier1 8 0 0.00 17 4 19.05 0 0 0.00 0 0 0.00 LY9 0 genome.wustl.edu 37 1 160771614 160771614 + Silent SNP C C T TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 1 160771614 160771614 C T SNP LY9 ENST00000368039 human ensembl 74_37 +1 known silent c.489 p.I163 0.999 NULL pfam_Ig_V-set,smart_Ig_sub - no_errors LY9 HGNC ENSG00000122224 tier1 - - 90 0 0.00 64 18 21.95 0 0 0.00 4 2 33.33 RPH3A 0 genome.wustl.edu 37 12 113307826 113307826 + Missense_Mutation SNP T T C TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 12 113307826 113307826 T C SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.778 p.S260P 0.997 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 34 0 0.00 36 12 25.00 36 0 0.00 33 3 8.33 INVS 0 genome.wustl.edu 37 9 103055210 103055249 + Frame_Shift_Del DEL ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC - TCGA-X6-A7WC-01A-12D-A351-09 TCGA-X6-A7WC-10A-01D-A351-09 ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efa39e31-447e-403d-bdc4-5109d85fbfdd f4e49b2c-3b30-4f98-b01d-8c69a8da817a 9 103055210 103055249 ATTGACCTTCTCCCCGTAGAGCTCCGACTGCAGATAATTC - DEL INVS ENST00000262457 human ensembl 74_37 +1 known frame_shift_del c.2671_2710 p.I891fs 1.000:1.000:0.995:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.746:0.872:0.907:0.908:0.996:1.000:1.000:0.999:0.991:0.976:0.991:0.985:0.643:0.990:0.996:0.994:0.995:0.994:1.000:1.000:1.000:0.995:1.000:1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 tier1 95 0 0.00 60 2 3.23 95 0 0.00 60 2 3.23