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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF TNFRSF8 0 genome.wustl.edu 37 1 12170181 12170181 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 12170181 12170181 G A SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.596 p.R199H 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 74 0 0 55 8 12.6984 PEX19 0 genome.wustl.edu 37 1 160253356 160253356 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 160253356 160253356 C T SNP PEX19 ENST00000368072 human ensembl 74_37 -1 known silent c.144 p.S48 0.292 NULL pfam_Pex19 - no_errors PEX19 HGNC ENSG00000162735 51 0 0 43 3 6.52174 PADI2 0 genome.wustl.edu 37 1 17402248 17402248 + Nonsense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 17402248 17402248 C A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known nonsense c.1381 p.E461* 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 144 0 0 104 9 7.9646 HMCN1 0 genome.wustl.edu 37 1 185947011 185947011 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 185947011 185947011 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2464 p.P822S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 92 0 0 66 7 9.58904 RGS1 0 genome.wustl.edu 37 1 192548268 192548268 + Missense_Mutation SNP T T A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 192548268 192548268 T A SNP RGS1 ENST00000367459 human ensembl 74_37 +1 known missense c.446 p.I149N 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS1 HGNC ENSG00000090104 55 0 0 34 4 10.5263 CR1L 0 genome.wustl.edu 37 1 207871117 207871117 + Silent SNP G G T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 207871117 207871117 G T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known silent c.1041 p.V347 0.039 pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 218 0 0 154 14 8.33333 PINK1 0 genome.wustl.edu 37 1 20971110 20971110 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 20971110 20971110 C T SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.904 p.R302C 0.000 pfam_Prot_kinase_dom,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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PINK1 HGNC ENSG00000158828 112 0 0 118 12 9.23077 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 223 0 0 112 50 30.8642 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 146 0 0 39 30 43.4783 OR2L3 0 genome.wustl.edu 37 1 248224695 248224695 + Missense_Mutation SNP C C G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 248224695 248224695 C G SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.712 p.L238V 0.000 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 OR2L3 HGNC ENSG00000198128 159 0 0 138 16 10.3896 SRRM1 0 genome.wustl.edu 37 1 24989244 24989244 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 24989244 24989244 C T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.1571 p.S524F 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 74 0 0 44 4 8.33333 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 9 0 0 5 6 54.5455 GMEB1 0 genome.wustl.edu 37 1 29040683 29040683 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 29040683 29040683 C T SNP GMEB1 ENST00000294409 human ensembl 74_37 +1 known missense c.1120 p.P374S 1.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 113 0 0 64 7 9.85915 CSMD2 0 genome.wustl.edu 37 1 34190221 34190221 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 34190221 34190221 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.2780 p.A927V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 105 0 0 56 3 5.08475 DLGAP3 0 genome.wustl.edu 37 1 35334571 35334571 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 35334571 35334571 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.2120 p.R707H 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 37 0 0 16 4 20 LRRC7 0 genome.wustl.edu 37 1 70505053 70505053 + Silent SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 70505053 70505053 C A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.3432 p.G1144 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 103 0 0 80 7 8.04598 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74834948 74834948 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 74834948 74834948 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1814 p.R605H 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 pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 45 0 0 35 3 7.89474 ELTD1 0 genome.wustl.edu 37 1 79357356 79357356 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 79357356 79357356 G A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.1863 p.L621 0.008 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 50 0 0 31 3 8.82353 ABI1 0 genome.wustl.edu 37 10 27149760 27149760 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 10 27149760 27149760 C T SNP ABI1 ENST00000355394 human ensembl 74_37 -1 known silent c.33 p.E11 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 80 0 0 68 6 8.10811 RASGEF1A 0 genome.wustl.edu 37 10 43693520 43693520 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 10 43693520 43693520 C T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.1156 p.V386I 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 130 0 0 88 17 16.1905 ZMIZ1 0 genome.wustl.edu 37 10 81064968 81064968 + Silent SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 10 81064968 81064968 C A SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.2334 p.T778 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 76 0 0 36 3 7.69231 MUC2 0 genome.wustl.edu 37 11 1093720 1093720 + Missense_Mutation SNP T T G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 11 1093720 1093720 T G SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5539 p.L1847V 0.007 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 351 0 0 227 12 5.02092 GRIK4 0 genome.wustl.edu 37 11 120744839 120744839 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 11 120744839 120744839 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.971 p.R324Q 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 66 0 0 30 4 11.7647 TECTA 0 genome.wustl.edu 37 11 121028745 121028745 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 11 121028745 121028745 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4501 p.A1501T 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 53 0 0 26 3 10.3448 OR10S1 0 genome.wustl.edu 37 11 123847677 123847677 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 11 123847677 123847677 C T SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.722 p.R241H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 92 0 0 63 12 16 MTNR1B 0 genome.wustl.edu 37 11 92714701 92714701 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 11 92714701 92714701 C T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known silent c.312 p.D104 0.068 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 221 0 0 154 50 24.5098 CKAP4 0 genome.wustl.edu 37 12 106633919 106633919 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 12 106633919 106633919 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.692 p.T231M 0.989 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 89 0 0 90 9 9.09091 CACNA2D4 0 genome.wustl.edu 37 12 1995426 1995426 + Missense_Mutation SNP T T A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 12 1995426 1995426 T A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.956 p.D319V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 50 0 0 22 6 21.4286 DDX11 0 genome.wustl.edu 37 12 31242861 31242861 + Silent SNP A A C TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 12 31242861 31242861 A C SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.922 p.R308 0.001 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 12 0 0 10 6 37.5 AMIGO2 0 genome.wustl.edu 37 12 47471424 47471424 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 12 47471424 47471424 G A SNP AMIGO2 ENST00000266581 human ensembl 74_37 -1 known silent c.1362 p.S454 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 74 0 0 33 4 10.8108 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 119 1 0.833333 38 35 47.9452 TARBP2 0 genome.wustl.edu 37 12 53899824 53899824 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 12 53899824 53899824 C T SNP TARBP2 ENST00000266987 human ensembl 74_37 +1 known silent c.993 p.T331 0.549 smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 69 0 0 43 6 12.2449 DACT1 0 genome.wustl.edu 37 14 59113462 59113462 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 14 59113462 59113462 G A SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.2121 p.A707 0.001 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 70 0 0 33 9 21.4286 ERH 0 genome.wustl.edu 37 14 69861593 69861593 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 14 69861593 69861593 G A SNP ERH ENST00000557016 human ensembl 74_37 -1 known missense c.40 p.P14S 1.000 pfam_Enh_rudimentary,pirsf_Enh_rudimentary pfam_Enh_rudimentary,pirsf_Enh_rudimentary - no_errors ERH HGNC ENSG00000100632 31 0 0 30 3 9.09091 TYRO3 0 genome.wustl.edu 37 15 41863317 41863317 + Splice_Site SNP G G C TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 15 41863317 41863317 G C SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known splice_site c.1660+1 e13+1 1.000 - - - no_errors TYRO3 HGNC ENSG00000092445 110 0 0 73 7 8.75 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 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 45 0 0 20 30 60 GDPD3 0 genome.wustl.edu 37 16 30119574 30119574 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 16 30119574 30119574 C T SNP GDPD3 ENST00000406256 human ensembl 74_37 -1 known missense c.779 p.R260K 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD3 HGNC ENSG00000102886 96 0 0 69 6 8 TOB1 0 genome.wustl.edu 37 17 48940665 48940665 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 17 48940665 48940665 C T SNP TOB1 ENST00000268957 human ensembl 74_37 -1 known silent c.714 p.Q238 1.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB1 HGNC ENSG00000141232 47 0 0 51 5 8.92857 CCDC47 0 genome.wustl.edu 37 17 61838708 61838708 + Missense_Mutation SNP T T C TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 17 61838708 61838708 T C SNP CCDC47 ENST00000225726 human ensembl 74_37 -1 known missense c.551 p.D184G 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 161 0 0 121 12 9.02256 TP53 0 genome.wustl.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 17 7577534 7577534 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.747 p.R249S 0.977 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 81 0 0 49 5 9.25926 LOC644669 0 genome.wustl.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 18 15323276 15323276 A T SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 11 0 0 7 3 30 ZNF396 0 genome.wustl.edu 37 18 32949588 32949588 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 18 32949588 32949588 G A SNP ZNF396 ENST00000589332 human ensembl 74_37 -1 known missense c.599 p.S200L 0.042 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF396 HGNC ENSG00000186496 70 0 0 37 6 13.9535 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 114 1 0.869565 42 42 50 CRLF1 0 genome.wustl.edu 37 19 18709587 18709587 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 18709587 18709587 C A SNP CRLF1 ENST00000392386 human ensembl 74_37 -1 known missense c.522 p.K174N 1.000 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC ENSG00000006016 66 0 0 42 4 8.69565 RYR1 0 genome.wustl.edu 37 19 38939430 38939430 + Silent SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 38939430 38939430 C A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.1099 p.R367 0.996 pfam_MIR_motif,superfamily_MIR_motif 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 44 0 0 45 3 6.25 ATP1A3 0 genome.wustl.edu 37 19 42479904 42479904 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 42479904 42479904 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2140 p.A714T 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase 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 ATP1A3 HGNC ENSG00000105409 197 0 0 148 13 8.07453 CCDC8 0 genome.wustl.edu 37 19 46915005 46915005 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 46915005 46915005 C A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.1063 p.A355S 0.778 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 232 0 0 228 17 6.93878 ELSPBP1 0 genome.wustl.edu 37 19 48519257 48519257 + Missense_Mutation SNP T T G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 48519257 48519257 T G SNP ELSPBP1 ENST00000339841 human ensembl 74_37 +1 known missense c.316 p.F106V 0.310 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors ELSPBP1 HGNC ENSG00000169393 88 0 0 72 6 7.69231 CACNG7 0 genome.wustl.edu 37 19 54445295 54445295 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 54445295 54445295 C T SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known silent c.576 p.A192 0.971 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 26 0 0 20 4 16.6667 FCAR 0 genome.wustl.edu 37 19 55401080 55401080 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 55401080 55401080 G A SNP FCAR ENST00000355524 human ensembl 74_37 +1 known missense c.715 p.V239M 0.000 NULL smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 577 0 0 325 48 12.8686 MUC16 0 genome.wustl.edu 37 19 9008193 9008193 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 9008193 9008193 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.39359 p.R13120Q 0.030 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 290 0 0 214 30 12.2951 MUC16 0 genome.wustl.edu 37 19 9015712 9015712 + Missense_Mutation SNP T T G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 9015712 9015712 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38111 p.N12704T 1.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 184 0 0 113 7 5.83333 NCOA1 0 genome.wustl.edu 37 2 24964753 24964753 + Missense_Mutation SNP T T A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 2 24964753 24964753 T A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3404 p.M1135K 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 101 0 0 62 7 10.1449 MYH7B 0 genome.wustl.edu 37 20 33575071 33575071 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 20 33575071 33575071 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel silent c.1254 p.A418 0.584 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 141 0 0 148 10 6.32911 ZNF335 0 genome.wustl.edu 37 20 44592422 44592422 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 20 44592422 44592422 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.1310 p.R437H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 152 0 0 143 9 5.92105 PREX1 0 genome.wustl.edu 37 20 47260992 47260992 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 20 47260992 47260992 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.3556 p.V1186M 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 46 0 0 21 5 19.2308 GNAS 0 genome.wustl.edu 37 20 57415370 57415370 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 20 57415370 57415370 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.209 p.R70H 0.998 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 145 0 0 77 18 18.9474 COL20A1 0 genome.wustl.edu 37 20 61943088 61943088 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 20 61943088 61943088 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.1651 p.R551C 0.838 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 18 0 0 6 3 33.3333 MYO18B 0 genome.wustl.edu 37 22 26194047 26194047 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 22 26194047 26194047 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2504 p.A835V 0.858 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 45 0 0 34 5 12.8205 PLOD2 0 genome.wustl.edu 37 3 145828089 145828089 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 3 145828089 145828089 C T SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.485 p.R162H 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 68 0 0 56 3 5.08475 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 138 0 0 57 29 33.7209 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 194 0 0 53 5 8.62069 PDHB 0 genome.wustl.edu 37 3 58413835 58413835 + Missense_Mutation SNP T T C TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 3 58413835 58413835 T C SNP PDHB ENST00000302746 human ensembl 74_37 -1 known missense c.1006 p.K336E 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 48 0 0 27 6 18.1818 FAT4 0 genome.wustl.edu 37 4 126240497 126240497 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 4 126240497 126240497 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.2931 p.S977 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 75 0 0 47 5 9.61538 MAML3 0 genome.wustl.edu 37 4 140811099 140811099 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 4 140811099 140811099 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1491 p.Q497 0.995 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 64 0 0 43 5 10.4167 KCTD8 0 genome.wustl.edu 37 4 44176968 44176968 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 4 44176968 44176968 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.1261 p.R421W 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 233 0 0 169 18 9.62567 LPHN3 0 genome.wustl.edu 37 4 62812713 62812713 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 4 62812713 62812713 C T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2501 p.T834M 0.974 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 166 0 0 116 8 6.45161 ABLIM2 0 genome.wustl.edu 37 4 8009905 8009905 + Missense_Mutation SNP A A G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 4 8009905 8009905 A G SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.1499 p.L500P 0.992 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 68 0 0 51 6 10.5263 SLCO6A1 0 genome.wustl.edu 37 5 101795411 101795411 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 101795411 101795411 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.970 p.V324I 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 64 0 0 61 9 12.8571 PPIP5K2 0 genome.wustl.edu 37 5 102490450 102490450 + Splice_Site SNP G G T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 102490450 102490450 G T SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known splice_site c.1293+1 e11+1 1.000 - - - no_errors PPIP5K2 HGNC ENSG00000145725 31 0 0 34 4 10.5263 SLC25A48 0 genome.wustl.edu 37 5 135188428 135188428 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 135188428 135188428 C T SNP SLC25A48 ENST00000420621 human ensembl 74_37 +1 known silent c.339 p.A113 0.012 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 101 0 0 54 6 10 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 136 1 0.729927 52 42 44.6809 PCDHA5 0 genome.wustl.edu 37 5 140202806 140202806 + Silent SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 140202806 140202806 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1446 p.D482 0.876 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 229 1 0.434783 104 25 19.3798 PCDHA11 0 genome.wustl.edu 37 5 140250862 140250862 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 140250862 140250862 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.2174 p.T725M 0.066 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 97 0 0 32 9 21.9512 DEPDC1B 0 genome.wustl.edu 37 5 59899243 59899243 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 5 59899243 59899243 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.1217 p.R406H 1.000 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 48 0 0 37 4 9.7561 POPDC3 0 genome.wustl.edu 37 6 105606547 105606547 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 105606547 105606547 C T SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 222 0 0 152 12 7.31707 AK9 0 genome.wustl.edu 37 6 109871483 109871483 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 109871483 109871483 C A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.2774 p.R925I 0.777 superfamily_P-loop_NTPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 62 0 0 73 6 7.59494 REV3L 0 genome.wustl.edu 37 6 111696395 111696395 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 111696395 111696395 C A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3163 p.A1055S 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 57 0 0 66 8 10.8108 TAAR1 0 genome.wustl.edu 37 6 132966508 132966508 + Missense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 132966508 132966508 C A SNP TAAR1 ENST00000275216 human ensembl 74_37 -1 known missense c.635 p.R212I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_TAAR1,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_TAAR1,prints_TAAR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors TAAR1 HGNC ENSG00000146399 64 0 0 58 5 7.93651 MTHFD1L 0 genome.wustl.edu 37 6 151266671 151266671 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 151266671 151266671 G A SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known silent c.1617 p.R539 0.736 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 57 0 0 49 3 5.76923 PLG 0 genome.wustl.edu 37 6 161152156 161152156 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 161152156 161152156 G A SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.1330 p.V444I 0.093 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 116 0 0 65 4 5.7971 TNXB 0 genome.wustl.edu 37 6 32035444 32035444 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 32035444 32035444 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6538 p.V2180I 0.031 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 70 0 0 43 3 6.52174 PBX2 0 genome.wustl.edu 37 6 32155034 32155034 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 32155034 32155034 G A SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.1009 p.P337S 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 59 0 0 63 4 5.97015 LY86 0 genome.wustl.edu 37 6 6589058 6589058 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 6589058 6589058 G A SNP LY86 ENST00000230568 human ensembl 74_37 +1 known missense c.91 p.V31M 0.153 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY86 HGNC ENSG00000112799 94 0 0 60 14 18.9189 COL12A1 0 genome.wustl.edu 37 6 75847211 75847211 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 75847211 75847211 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5336 p.R1779H 0.988 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 37 0 0 30 7 18.9189 NT5E 0 genome.wustl.edu 37 6 86197098 86197098 + Missense_Mutation SNP A A T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 86197098 86197098 A T SNP NT5E ENST00000257770 human ensembl 74_37 +1 known missense c.995 p.D332V 0.847 NULL pfam_5'-Nucleotdase_C,pfam_PEstase_dom,superfamily_5'-Nucleotdase_C,prints_5_nucleotidase/apyrase - no_errors NT5E HGNC ENSG00000135318 75 0 0 66 4 5.71429 EPHA7 0 genome.wustl.edu 37 6 93955108 93955108 + Missense_Mutation SNP T T A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 6 93955108 93955108 T A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2790 p.E930D 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHA7 HGNC ENSG00000135333 69 0 0 32 3 8.57143 EIF3B 0 genome.wustl.edu 37 7 2416710 2416710 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 7 2416710 2416710 G A SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known silent c.2154 p.K718 1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 63 0 0 26 5 16.129 TAX1BP1 0 genome.wustl.edu 37 7 27831706 27831706 + Missense_Mutation SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 7 27831706 27831706 G A SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known missense c.1120 p.A374T 0.984 pfam_CoCoA pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 75 0 0 47 5 9.61538 SNTB1 0 genome.wustl.edu 37 8 121706119 121706119 + Missense_Mutation SNP C C T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 8 121706119 121706119 C T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.601 p.V201M 1.000 superfamily_PDZ,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 84 0 0 85 5 5.55556 TRIM35 0 genome.wustl.edu 37 8 27145133 27145133 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 8 27145133 27145133 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.1416 p.A472 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 9 0 0 8 8 50 PAG1 0 genome.wustl.edu 37 8 81889066 81889066 + Nonsense_Mutation SNP C C A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 8 81889066 81889066 C A SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known nonsense c.1012 p.E338* 0.946 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 92 0 0 57 19 25 OR13C2 0 genome.wustl.edu 37 9 107367704 107367704 + Missense_Mutation SNP A A T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 9 107367704 107367704 A T SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.205 p.L69M 0.001 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 OR13C2 HGNC ENSG00000257019 43 0 0 35 5 12.5 CLCN4 0 genome.wustl.edu 37 X 10176607 10176607 + Missense_Mutation SNP A A T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 10176607 10176607 A T SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.1366 p.T456S 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 129 0 0 105 28 21.0526 HMGB3 0 genome.wustl.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 150156360 150156360 G A SNP HMGB3 ENST00000325307 human ensembl 74_37 +1 known silent c.576 p.E192 0.985 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 67 0 0 70 5 6.66667 ASMT 0 genome.wustl.edu 37 X 1755356 1755356 + Silent SNP G G A TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 1755356 1755356 G A SNP ASMT ENST00000381241 human ensembl 74_37 +1 known silent c.813 p.P271 0.218 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 190 0 0 126 14 10 USP51 0 genome.wustl.edu 37 X 55513741 55513741 + Silent SNP T T C TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 55513741 55513741 T C SNP USP51 ENST00000500968 human ensembl 74_37 -1 known silent c.1632 p.P544 0.819 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 42 0 0 27 7 20.5882 P2RY4 0 genome.wustl.edu 37 X 69478800 69478800 + Silent SNP A A G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 69478800 69478800 A G SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known silent c.675 p.R225 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 65 0 0 24 8 25 P2RY4 0 genome.wustl.edu 37 X 69478801 69478801 + Missense_Mutation SNP C C G TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 69478801 69478801 C G SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.674 p.R225P 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 67 0 0 23 12 34.2857 ENSG00000203849 0 genome.wustl.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 142713977 142713977 T - DEL ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 12 0 0 5 3 37.5 LRRC41 0 genome.wustl.edu 37 1 46726876 46726877 + RNA INS - - T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 1 46726876 46726877 - T INS LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 23 0 0 18 8 30.7692 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 13 0 0 11 6 35.2941 ENSG00000272056 0 genome.wustl.edu 37 2 27276504 27276505 + RNA INS - - T TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 2 27276504 27276505 - T INS ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 23 0 0 19 4 17.3913 POU6F2 0 genome.wustl.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 7 39379288 39379290 CAG - DEL POU6F2 ENST00000403058 human ensembl 74_37 +1 known in_frame_del c.559_561 p.Q190in_frame_del 0.172:0.153:0.157 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 34 0 0 26 4 13.3333 DLX6 0 genome.wustl.edu 37 7 96635364 96635366 + In_Frame_Del DEL GCA GCA - TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab 7 96635364 96635366 GCA - DEL DLX6 ENST00000518156 human ensembl 74_37 +1 known in_frame_del c.75_77 p.Q29in_frame_del 1.000:1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 24 0 0 5 2 28.5714 AVPR2 0 genome.wustl.edu 37 X 153171867 153171882 + Frame_Shift_Del DEL GAAGGTGGGTGTAGCC GAAGGTGGGTGTAGCC - TCGA-HU-A4GY-01A-21D-A24D-08 TCGA-HU-A4GY-10A-01D-A24F-08 GAAGGTGGGTGTAGCC GAAGGTGGGTGTAGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 03e36fad-0e6d-4a8c-a004-7e47a9b4e4bc e153477b-f9d3-43e6-9dfc-40f1fd9f42ab X 153171867 153171882 GAAGGTGGGTGTAGCC - DEL AVPR2 ENST00000337474 human ensembl 74_37 +1 known frame_shift_del c.907_910 p.E303fs 0.909:0.984:0.986:0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 205 0 0 137 8 5.51724