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 LRRC8D 0 genome.wustl.edu 37 1 90399271 90399271 + Missense_Mutation SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 90399271 90399271 A G SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.644 p.E215G 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 tier1 - - 37 0 0.00 32 4 11.11 NEUROD4 0 genome.wustl.edu 37 12 55420485 55420485 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 12 55420485 55420485 C T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known nonsense c.262 p.R88* 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 34 0 0.00 55 9 14.06 MIR629 0 genome.wustl.edu 37 15 70371801 70371801 + R SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 15 70371801 70371801 A G SNP MIR629 ENST00000385230 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR629 HGNC ENSG00000207965 tier1 - - 39 0 0.00 44 5 10.20 MYT1L 0 genome.wustl.edu 37 2 1906955 1906955 + Missense_Mutation SNP C C G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 1906955 1906955 C G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1929 p.K643N 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 76 0 0.00 42 8 16.00 AR 0 genome.wustl.edu 37 X 66765597 66765597 + Silent SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 X 66765597 66765597 C T SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.609 p.S203 0.000 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 121 0 0.00 77 15 16.30 ZNF808 0 genome.wustl.edu 37 19 53058345 53058345 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 19 53058345 53058345 C T SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.2176 p.R726C 0.336 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 ZNF808 HGNC ENSG00000198482 tier1 - - 130 0 0.00 111 37 25.00 TAAR2 0 genome.wustl.edu 37 6 132945357 132945357 + Nonsense_Mutation SNP T T A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 6 132945357 132945357 T A SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known nonsense c.58 p.K20* 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 tier1 - - 17 0 0.00 31 7 18.42 ENSG00000227082 0 genome.wustl.edu 37 1 121138882 121138882 + R SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 121138882 121138882 A G SNP ENSG00000227082 ENST00000417218 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors AL592494.5 Clone_based_vega_gene ENSG00000227082 tier1 rs77721662 - 16 0 0.00 5 3 33.33 HIST3H3 0 genome.wustl.edu 37 1 228612940 228612940 + Silent SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 228612940 228612940 G A SNP HIST3H3 ENST00000366696 human ensembl 74_37 -1 known silent c.87 p.S29 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 tier1 - - 35 0 0.00 22 5 18.52 MEF2C 0 genome.wustl.edu 37 5 88025139 88025139 + Nonsense_Mutation SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 5 88025139 88025139 G T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known nonsense c.860 p.S287* 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 22 0 0.00 22 14 38.89 FAM92B 0 genome.wustl.edu 37 16 85141485 85141485 + Silent SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 16 85141485 85141485 C A SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known silent c.393 p.L131 0.999 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 tier1 - - 62 0 0.00 29 7 19.44 DVL1 0 genome.wustl.edu 37 1 1275822 1275822 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 1275822 1275822 G A SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known missense c.667 p.R223W 1.000 superfamily_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 tier1 - - 90 0 0.00 57 14 19.72 TMPRSS11A 0 genome.wustl.edu 37 4 68784778 68784778 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 68784778 68784778 G A SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.874 p.R292C 0.044 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 rs141574463 - 54 0 0.00 57 7 10.94 MAGEC1 0 genome.wustl.edu 37 X 140994549 140994549 + Nonsense_Mutation SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 X 140994549 140994549 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known nonsense c.1359 p.Y453* 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 117 0 0.00 204 26 11.30 POLE 0 genome.wustl.edu 37 12 133249233 133249233 + Missense_Mutation SNP T T C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 12 133249233 133249233 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.1666 p.I556V 1.000 smart_D-dir_D_pol_B pfam_D_pol_e_suA_C,pfam_D-dir_D_pol_B_exonuc,pfam_D-dir_D_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 39 0 0.00 20 6 23.08 IF16 0 genome.wustl.edu 37 9 21217127 21217127 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 9 21217127 21217127 C T SNP IF16 ENST00000380216 human ensembl 74_37 -1 known missense c.178 p.G60R 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IF16 HGNC ENSG00000147885 tier1 - - 114 0 0.00 105 24 18.60 ZFYVE28 0 genome.wustl.edu 37 4 2321944 2321944 + Silent SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 2321944 2321944 G A SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known silent c.756 p.D252 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 tier1 - - 158 0 0.00 125 22 14.97 MYT1 0 genome.wustl.edu 37 20 62839308 62839308 + Silent SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 20 62839308 62839308 C A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.759 p.G253 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 23 0 0.00 15 3 16.67 DH8 0 genome.wustl.edu 37 6 38980307 38980307 + Silent SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 6 38980307 38980307 G T SNP DH8 ENST00000359357 human ensembl 74_37 +1 known silent c.12957 p.L4319 1.000 pfam_Dynein_heavy_dom 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 DH8 HGNC ENSG00000124721 tier1 - - 29 0 0.00 39 9 18.75 VAV1 0 genome.wustl.edu 37 19 6773005 6773005 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 19 6773005 6773005 C T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.187 p.R63C 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 - - 98 0 0.00 48 6 11.11 MTPAP 0 genome.wustl.edu 37 10 30602633 30602633 + Nonsense_Mutation SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 10 30602633 30602633 C A SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known nonsense c.2044 p.E682* 0.994 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 67 0 0.00 53 30 36.14 EPHA6 0 genome.wustl.edu 37 3 97439140 97439140 + Silent SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 3 97439140 97439140 A G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known silent c.2820 p.E940 1.000 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 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 104 0 0.00 98 27 21.60 ESR2 0 genome.wustl.edu 37 14 64749427 64749427 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 14 64749427 64749427 G A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.277 p.R93C 0.979 pfam_Estrogen_rcpt_beta_N pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 tier1 rs147382781 - 37 0 0.00 33 7 17.50 RUNDC1 0 genome.wustl.edu 37 17 41143458 41143458 + Missense_Mutation SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 17 41143458 41143458 G T SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known missense c.1567 p.V523L 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 tier1 - - 68 0 0.00 43 4 8.51 ATP6V1E1 0 genome.wustl.edu 37 22 18082831 18082831 + Missense_Mutation SNP T T A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 22 18082831 18082831 T A SNP ATP6V1E1 ENST00000253413 human ensembl 74_37 -1 known missense c.397 p.I133F 0.996 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E1 HGNC ENSG00000131100 tier1 - - 204 0 0.00 205 34 14.23 SUGP1 0 genome.wustl.edu 37 19 19407813 19407813 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 19 19407813 19407813 G A SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1228 p.P410S 0.859 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 tier1 - - 61 0 0.00 54 8 12.90 GRM7 0 genome.wustl.edu 37 3 7494313 7494313 + Missense_Mutation SNP A A T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 3 7494313 7494313 A T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1194 p.K398N 0.833 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 26 0 0.00 87 17 16.35 SLC30A3 0 genome.wustl.edu 37 2 27478187 27478188 + Frame_Shift_Ins INS - - G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 27478187 27478188 - G INS SLC30A3 ENST00000233535 human ensembl 74_37 -1 known frame_shift_ins c.1160_1159 p.Q387fs 0.986:0.942 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 tier1 47 0 0.00 33 3 8.33 LUZP4 0 genome.wustl.edu 37 X 114541124 114541124 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 X 114541124 114541124 C T SNP LUZP4 ENST00000371920 human ensembl 74_37 +1 known missense c.697 p.R233C 0.001 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 tier1 - - 45 0 0.00 48 6 11.11 HTT 0 genome.wustl.edu 37 4 3225176 3225176 + Missense_Mutation SNP C C G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 3225176 3225176 C G SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.7514 p.A2505G 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 54 0 0.00 57 10 14.93 SGK223 0 genome.wustl.edu 37 8 8176387 8176388 + In_Frame_Ins INS - - GGGGCG TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 8 8176387 8176388 - GGGGCG INS SGK223 ENST00000330777 human ensembl 74_37 -1 known in_frame_ins c.3498_3497 p.1170in_frame_insPA 0.000:0.034 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 FAM167A 0 genome.wustl.edu 37 8 11301807 11301807 + Missense_Mutation SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 8 11301807 11301807 C A SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known missense c.114 p.R38S 1.000 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 tier1 - - 65 0 0.00 58 24 29.27 DUSP10 0 genome.wustl.edu 37 1 221875661 221875662 + R INS - - A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 11 0 0.00 14 5 26.32 PCDHB13 0 genome.wustl.edu 37 5 140595444 140595444 + Silent SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 5 140595444 140595444 C A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1749 p.G583 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 82 0 0.00 54 7 11.48 NTM 0 genome.wustl.edu 37 11 132205739 132205739 + R SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 11 132205739 132205739 A G SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 52 0 0.00 24 7 22.58 ENSG00000215972 0 genome.wustl.edu 37 10 127531562 127531562 + R SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 10 127531562 127531562 G A SNP ENSG00000215972 ENST00000401153 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL360176.1 Clone_based_ensembl_gene ENSG00000215972 tier1 - - 87 0 0.00 62 10 13.70 PRLR 0 genome.wustl.edu 37 5 35049444 35049444 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 5 35049444 35049444 C T SNP PRLR ENST00000231423 human ensembl 74_37 -1 known missense c.1079 p.S360N 0.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 45 0 0.00 67 8 10.67 TP53 0 genome.wustl.edu 37 17 7578191 7578191 + Missense_Mutation SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 17 7578191 7578191 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.658 p.Y220H 0.998 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 - - 112 1 0.88 51 27 34.62 ZNF652 0 genome.wustl.edu 37 17 47389375 47389375 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 17 47389375 47389375 C T SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known missense c.1078 p.E360K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 tier1 - - 37 0 0.00 36 7 16.28 MUC17 0 genome.wustl.edu 37 7 100680100 100680100 + Silent SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 7 100680100 100680100 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.5403 p.S1801 0.467 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 rs142682652 - 117 1 0.85 124 13 9.49 LOC400743 0 genome.wustl.edu 37 1 17521055 17521056 + R DEL CT CT - TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 17521055 17521056 CT - DEL LOC400743 ENST00000412427 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-380J14.1 Clone_based_vega_gene ENSG00000204362 tier1 31 0 0.00 32 3 8.57 OR2M3 0 genome.wustl.edu 37 1 248367161 248367161 + Silent SNP T T C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 248367161 248367161 T C SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known silent c.792 p.S264 0.000 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 - - 35 0 0.00 78 38 32.76 ANKK1 0 genome.wustl.edu 37 11 113269853 113269853 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 11 113269853 113269853 G A SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.1162 p.V388M 0.025 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 61 0 0.00 44 27 38.03 FAM47C 0 genome.wustl.edu 37 X 37027073 37027073 + Missense_Mutation SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 X 37027073 37027073 G T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.590 p.C197F 0.005 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 rs149352851 - 192 0 0.00 140 405 74.31 TMEM253 0 genome.wustl.edu 37 14 21571307 21571307 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 14 21571307 21571307 G A SNP TMEM253 ENST00000418511 human ensembl 74_37 +1 known missense c.544 p.E182K 0.695 NULL NULL - no_errors TMEM253 HGNC ENSG00000232070 tier1 - - 38 0 0.00 34 22 39.29 FAM205B 0 genome.wustl.edu 37 9 34835945 34835945 + R SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 9 34835945 34835945 G A SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 tier1 - - 23 0 0.00 23 5 17.86 FEZF1 0 genome.wustl.edu 37 7 121943251 121943251 + Missense_Mutation SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 7 121943251 121943251 G T SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known missense c.916 p.H306N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 tier1 - - 67 0 0.00 59 9 13.24 TPRKB 0 genome.wustl.edu 37 2 73957880 73957881 + R INS - - A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 73957880 73957881 - A INS TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.004 - - - no_errors TPRKB HGNC ENSG00000144034 tier1 17 0 0.00 15 2 11.76 KRTAP5-3 0 genome.wustl.edu 37 11 1628925 1628925 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 11 1628925 1628925 G A SNP KRTAP5-3 ENST00000399685 human ensembl 74_37 -1 known missense c.691 p.P231S 0.009 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 tier1 - - 184 0 0.00 109 23 17.42 BCMO1 0 genome.wustl.edu 37 16 81279115 81279115 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 16 81279115 81279115 C T SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.100 p.R34C 0.998 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 rs201320081 GMAF=0.0005 59 0 0.00 49 12 19.67 IGF2BP2 0 genome.wustl.edu 37 3 185414435 185414435 + Frame_Shift_Del DEL A A - TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 3 185414435 185414435 A - DEL IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known frame_shift_del c.305 p.L102fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 tier1 19 0 0.00 27 3 10.00 CCDC130 0 genome.wustl.edu 37 19 13865118 13865118 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 19 13865118 13865118 G A SNP CCDC130 ENST00000221554 human ensembl 74_37 +1 known missense c.19 p.V7I 0.211 pfam_CWC16 pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 tier1 - - 100 0 0.00 48 13 21.31 C14orf105 0 genome.wustl.edu 37 14 57947400 57947400 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 14 57947400 57947400 C T SNP C14orf105 ENST00000216445 human ensembl 74_37 -1 known missense c.568 p.A190T 0.639 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 tier1 - - 54 0 0.00 71 9 11.11 UBA3 0 genome.wustl.edu 37 3 69105348 69105348 + Silent SNP G G C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 3 69105348 69105348 G C SNP UBA3 ENST00000361055 human ensembl 74_37 -1 known silent c.1170 p.T390 0.998 pfam_E2_binding,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_D_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA3 HGNC ENSG00000144744 tier1 - - 68 0 0.00 69 11 13.75 FLT4 0 genome.wustl.edu 37 5 180047941 180047941 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 5 180047941 180047941 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.2234 p.R745H 0.619 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 rs184409663 GMAF=0.0005 58 0 0.00 30 4 11.76 DMXL2 0 genome.wustl.edu 37 15 51828727 51828727 + Silent SNP T T C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 15 51828727 51828727 T C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known silent c.1950 p.R650 0.822 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 17 0 0.00 18 18 50.00 FAM47B 0 genome.wustl.edu 37 X 34961413 34961413 + Silent SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 X 34961413 34961413 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.465 p.P155 0.113 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 tier1 - - 132 0 0.00 78 262 77.06 CCDC110 0 genome.wustl.edu 37 4 186379436 186379436 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 186379436 186379436 G A SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known nonsense c.2305 p.R769* 0.993 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 tier1 rs199552759 GMAF=0.0005 28 0 0.00 45 12 21.05 FAM92B 0 genome.wustl.edu 37 16 85141486 85141486 + Missense_Mutation SNP A A T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 16 85141486 85141486 A T SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known missense c.392 p.L131Q 1.000 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 tier1 - - 62 0 0.00 28 7 20.00 ANKRD20A4 0 genome.wustl.edu 37 9 69423558 69423558 + Silent SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 9 69423558 69423558 C T SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known silent c.1854 p.S618 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 tier1 rs199996482 - 19 0 0.00 81 20 19.80 HEMK1 0 genome.wustl.edu 37 3 50609193 50609193 + Missense_Mutation SNP T T C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 3 50609193 50609193 T C SNP HEMK1 ENST00000232854 human ensembl 74_37 +1 known missense c.281 p.L94P 0.117 tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK pfam_Small_mtfrase_dom,pfam_R_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_R_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 tier1 - - 101 0 0.00 44 9 16.98 HTN3 0 genome.wustl.edu 37 4 70897717 70897717 + Splice_Site SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 70897717 70897717 G T SNP HTN3 ENST00000526767 human ensembl 74_37 +1 known splice_site c.72+1 e2+1 0.964 - - - no_errors HTN3 HGNC ENSG00000205649 tier1 - - 83 0 0.00 72 8 10.00 TIA1 0 genome.wustl.edu 37 2 70443577 70443577 + Missense_Mutation SNP T T A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 70443577 70443577 T A SNP TIA1 ENST00000433529 human ensembl 74_37 -1 known missense c.638 p.N213I 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 tier1 - - 42 0 0.00 44 4 8.33 COG4 0 genome.wustl.edu 37 16 70530315 70530315 + Silent SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 16 70530315 70530315 G A SNP COG4 ENST00000323786 human ensembl 74_37 -1 known silent c.1501 p.L501 1.000 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 tier1 - - 55 0 0.00 45 5 10.00 TTN 0 genome.wustl.edu 37 2 179439275 179439275 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 179439275 179439275 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63880 p.H21294Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 15 0 0.00 47 10 17.54 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + R INS - - G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 18 0 0.00 22 4 15.38 NRXN1 0 genome.wustl.edu 37 2 50147836 50147853 + R DEL GTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT - TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 GTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 50147836 50147853 GTGTGTGTGTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055:0.070:0.324:0.354:0.283:0.295:0.258 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 SCOC 0 genome.wustl.edu 37 4 141302168 141302188 + In_Frame_Del DEL AGAAAACCAAGTTCTTGGACA AGAAAACCAAGTTCTTGGACA - TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 AGAAAACCAAGTTCTTGGACA AGAAAACCAAGTTCTTGGACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 141302168 141302188 AGAAAACCAAGTTCTTGGACA - DEL SCOC ENST00000608372 human ensembl 74_37 +1 known in_frame_del c.390_410 p.ENQVLGQ131in_frame_del 0.984:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.999:1.000:1.000 pfam_DUF2205_coiled-coil pfam_DUF2205_coiled-coil - no_errors SCOC HGNC ENSG00000153130 tier1 MUC17 0 genome.wustl.edu 37 7 100680117 100680117 + Missense_Mutation SNP T T C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 7 100680117 100680117 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5420 p.M1807T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 rs147353603 - 108 0 0.00 122 13 9.63 CAPN13 0 genome.wustl.edu 37 2 30987032 30987032 + Missense_Mutation SNP G G T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 30987032 30987032 G T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.665 p.A222E 0.001 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 48 0 0.00 34 3 8.11 ENSG00000250186 0 genome.wustl.edu 37 17 47482200 47482200 + R SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 17 47482200 47482200 G A SNP ENSG00000250186 ENST00000506504 human ensembl 74_37 +1 known rna NULL NULL 0.893 - - - no_errors RP11-1079K10.4 Clone_based_vega_gene ENSG00000250186 tier1 - - 40 0 0.00 32 5 13.51 IL1RN 0 genome.wustl.edu 37 2 113890420 113890420 + Missense_Mutation SNP C C A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 2 113890420 113890420 C A SNP IL1RN ENST00000259206 human ensembl 74_37 +1 known missense c.515 p.T172N 1.000 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL1RN HGNC ENSG00000136689 tier1 - - 36 0 0.00 28 5 15.15 MAPK10 0 genome.wustl.edu 37 4 87023109 87023109 + Missense_Mutation SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 4 87023109 87023109 A G SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.502 p.Y168H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 tier1 - - 20 0 0.00 35 33 48.53 MTHFD1 0 genome.wustl.edu 37 14 64884678 64884679 + Frame_Shift_Ins INS - - G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 14 64884678 64884679 - G INS MTHFD1 ENST00000216605 human ensembl 74_37 +1 known frame_shift_ins c.551_552 p.L185fs 1.000:1.000 pfam_THF_DH/CycHdrlase_D-bd_dom pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_D-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 tier1 59 0 0.00 34 9 20.93 GON4L 0 genome.wustl.edu 37 1 155785776 155785777 + R INS - - A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 1 155785776 155785777 - A INS GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 29 0 0.00 49 7 12.50 MIR629 0 genome.wustl.edu 37 15 70371803 70371803 + R SNP A A G TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 15 70371803 70371803 A G SNP MIR629 ENST00000385230 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR629 HGNC ENSG00000207965 tier1 - - 41 0 0.00 46 5 9.80 ENSG00000273433 0 genome.wustl.edu 37 7 27192088 27192089 + R INS - - GGCCT TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 7 27192088 27192089 - GGCCT INS ENSG00000273433 ENST00000467897 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.074 - - - no_errors RP1-170O19.22 Clone_based_vega_gene ENSG00000273433 tier1 PNPLA7 0 genome.wustl.edu 37 9 140409907 140409907 + Silent SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 9 140409907 140409907 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.1149 p.A383 0.224 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 109 0 0.00 63 30 32.26 NEFH 0 genome.wustl.edu 37 22 29884864 29884864 + Missense_Mutation SNP G G A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 22 29884864 29884864 G A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1235 p.R412Q 1.000 pfam_IF pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 - - 116 0 0.00 66 14 17.50 COL4A3BP 0 genome.wustl.edu 37 5 74722305 74722306 + Splice_Site INS - - A TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 5 74722305 74722306 - A INS COL4A3BP ENST00000380494 human ensembl 74_37 -1 known splice_site_ins c.733-3_733-2 e5-2 1.000:0.996 - - - no_errors COL4A3BP HGNC ENSG00000113163 tier1 21 0 0.00 46 4 8.00 KMT2C 0 genome.wustl.edu 37 7 151900117 151900117 + Missense_Mutation SNP C C T TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 7 151900117 151900117 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.3994 p.D1332N 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 15 0 0.00 34 15 30.61 GAPVD1 0 genome.wustl.edu 37 9 128025963 128025989 + Splice_Site DEL CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT - TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 9 128025963 128025989 CAGCACTCCATCTGTAGGTATGTCTGT - DEL GAPVD1 ENST00000469528 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993 - - - no_errors GAPVD1 HGNC ENSG00000165219 tier1 DENND5B 0 genome.wustl.edu 37 12 31648769 31648769 + Missense_Mutation SNP G G C TCGA-QQ-A5VA-01A-12D-A32I-09 TCGA-QQ-A5VA-11A-11D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 785de115-c037-46d5-84c5-34a20ade7a78 52b82f28-4796-456a-8523-59c171707336 12 31648769 31648769 G C SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.317 p.P106R 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 tier1 - - 205 0 0.00 163 48 22.64