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 ABCC5 0 genome.wustl.edu 37 3 183681223 183681223 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 183681223 183681223 G A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.2185 p.R729W 1.000 superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 69 0 0.00 57 4 6.56 ABCF2 0 genome.wustl.edu 37 7 150912711 150912711 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 150912711 150912711 G A SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known silent c.1509 p.Y503 0.180 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 54 0 0.00 29 2 6.45 ACAP3 0 genome.wustl.edu 37 1 1238596 1238596 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 1238596 1238596 G C SNP ACAP3 ENST00000353662 human ensembl 74_37 -1 known missense c.45 p.F15L 0.997 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 18 0 0.00 11 2 15.38 ADAM10 0 genome.wustl.edu 37 15 58925538 58925538 + Nonsense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 58925538 58925538 C A SNP ADAM10 ENST00000260408 human ensembl 74_37 -1 known nonsense c.1033 p.E345* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 tier1 - - 48 0 0.00 39 12 23.53 ADCK1 0 genome.wustl.edu 37 14 78399710 78399710 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 78399710 78399710 C T SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known silent c.1548 p.C516 0.989 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 48 0 0.00 44 3 6.38 AFG3L2 0 genome.wustl.edu 37 18 12353077 12353077 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 18 12353077 12353077 C T SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.1245 p.K415 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 25 0 0.00 34 7 17.07 AGTPBP1 0 genome.wustl.edu 37 9 88257808 88257808 + Silent SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 88257808 88257808 C A SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.1272 p.P424 0.998 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 tier1 - - 63 0 0.00 63 4 5.97 AMOT 0 genome.wustl.edu 37 X 112058941 112058941 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 112058941 112058941 G T SNP AMOT ENST00000371959 human ensembl 74_37 -1 known nonsense c.1037 p.S346* 0.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 84 0 0.00 52 4 7.14 ANAPC1 0 genome.wustl.edu 37 2 112529998 112529998 + Nonsense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 112529998 112529998 G C SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known nonsense c.5639 p.S1880* 0.985 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 tier1 - - 17 0 0.00 10 5 33.33 ANKRD26 0 genome.wustl.edu 37 10 27355272 27355275 + RNA DEL ATTA ATTA - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 ATTA ATTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 27355272 27355275 ATTA - DEL ANKRD26 ENST00000473304 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors ANKRD26 HGNC ENSG00000107890 tier1 10 0 0.00 4 3 42.86 ANKRD28 0 genome.wustl.edu 37 3 15778589 15778589 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 15778589 15778589 C A SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.512 p.R171L 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 35 0 0.00 34 2 5.56 ANKRD30BP2 0 genome.wustl.edu 37 21 14417863 14417863 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 21 14417863 14417863 G T SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 rs9968011 - 8 0 0.00 5 6 54.55 AP3B1 0 genome.wustl.edu 37 5 77330193 77330193 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 77330193 77330193 G T SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.2886 p.F962L 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 - - 40 0 0.00 47 4 7.84 AP4E1 0 genome.wustl.edu 37 15 51291343 51291343 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 51291343 51291343 G T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.2979 p.Q993H 0.994 pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 tier1 - - 32 0 0.00 44 4 8.33 APOB 0 genome.wustl.edu 37 2 21250902 21250902 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 21250902 21250902 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1865 p.S622Y 0.887 superfamily_Vitellinogen_superhlx,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 33 0 0.00 31 2 6.06 ARAP2 0 genome.wustl.edu 37 4 36230811 36230811 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 36230811 36230811 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known nonsense c.298 p.Q100* 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 33 0 0.00 26 7 21.21 ARHGAP35 0 genome.wustl.edu 37 19 47423066 47423066 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 47423066 47423066 G T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.1134 p.K378N 1.000 smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 56 0 0.00 37 4 9.76 ARID2 0 genome.wustl.edu 37 12 46299067 46299067 + RNA DEL A A - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 46299067 46299067 A - DEL ARID2 ENST00000479608 human ensembl 74_37 +1 known rna NULL NULL 0.911 - - - no_errors ARID2 HGNC ENSG00000189079 tier1 12 0 0.00 12 4 25.00 ARMCX4 0 genome.wustl.edu 37 X 100748828 100748828 + Frame_Shift_Del DEL A A - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 100748828 100748828 A - DEL ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative frame_shift_del c.5252 p.A1753fs 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 51 0 0.00 32 3 8.57 ATAD2B 0 genome.wustl.edu 37 2 24090793 24090793 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 24090793 24090793 G T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.1100 p.A367E 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 57 0 0.00 53 4 7.02 ATM 0 genome.wustl.edu 37 11 108170474 108170474 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 108170474 108170474 C A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.5039 p.P1680H 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 29 0 0.00 48 4 7.69 ATP2A3 0 genome.wustl.edu 37 17 3848001 3848001 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 3848001 3848001 G T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.1284 p.N428K 0.992 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 tier1 - - 77 0 0.00 34 4 10.53 ATP8A1 0 genome.wustl.edu 37 4 42627653 42627653 + Missense_Mutation SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 42627653 42627653 A G SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.242 p.F81S 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 70 0 0.00 64 18 21.95 BAALC 0 genome.wustl.edu 37 8 104153150 104153150 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 104153150 104153150 G A SNP BAALC ENST00000297574 human ensembl 74_37 +1 known missense c.25 p.D9N 0.995 pfam_BAALC pfam_BAALC - no_errors BAALC HGNC ENSG00000164929 11 0 0.00 3 3 50.00 BAI3 0 genome.wustl.edu 37 6 70070788 70070788 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 70070788 70070788 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3623 p.R1208Q 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 31 0 0.00 37 2 5.13 BCAR1 0 genome.wustl.edu 37 16 75276907 75276907 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 75276907 75276907 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.232 p.V78M 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 37 0 0.00 15 2 11.76 BICC1 0 genome.wustl.edu 37 10 60549211 60549211 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 60549211 60549211 G T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.790 p.V264L 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 28 0 0.00 15 2 11.76 BTN1A1 0 genome.wustl.edu 37 6 26506976 26506976 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 26506976 26506976 C A SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.775 p.L259I 0.999 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 tier1 - - 52 0 0.00 53 5 8.62 BUB1B 0 genome.wustl.edu 37 15 40504783 40504783 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 40504783 40504783 C T SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known silent c.2511 p.C837 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 47 0 0.00 66 4 5.71 C17orf105 0 genome.wustl.edu 37 17 41859202 41859202 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 41859202 41859202 G A SNP C17orf105 ENST00000449302 human ensembl 74_37 +1 known missense c.256 p.A86T 0.970 NULL NULL - no_errors C17orf105 HGNC ENSG00000231256 tier1 - - 56 0 0.00 42 4 8.70 C1orf140 0 genome.wustl.edu 37 1 221507319 221507319 + RNA SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 221507319 221507319 C G SNP C1orf140 ENST00000434398 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-421L10.1 Clone_based_vega_gene ENSG00000234754 tier1 - - 55 0 0.00 27 7 20.59 C2CD3 0 genome.wustl.edu 37 11 73753117 73753117 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 73753117 73753117 G C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.5642 p.S1881C 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 53 0 0.00 40 15 27.27 C4orf50 0 genome.wustl.edu 37 4 5991404 5991404 + Missense_Mutation SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 5991404 5991404 T C SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.95 p.Q32R 0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 27 0 0.00 18 3 14.29 CALB1 0 genome.wustl.edu 37 8 91078168 91078168 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 91078168 91078168 C T SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known silent c.408 p.K136 0.995 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 tier1 - - 50 0 0.00 47 14 22.95 CASK 0 genome.wustl.edu 37 X 41524635 41524635 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 41524635 41524635 G T SNP CASK ENST00000378163 human ensembl 74_37 -1 known missense c.603 p.D201E 0.971 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 pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 tier1 - - 48 0 0.00 35 10 22.22 CBR3-AS1 0 genome.wustl.edu 37 21 37504232 37504232 + RNA SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 21 37504232 37504232 T A SNP CBR3-AS1 ENST00000413862 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CBR3-AS1 HGNC ENSG00000236830 23 0 0.00 15 4 21.05 CCDC178 0 genome.wustl.edu 37 18 30803178 30803178 + Silent SNP A A C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 18 30803178 30803178 A C SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.1824 p.L608 0.001 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 36 0 0.00 23 6 20.69 CCDC81 0 genome.wustl.edu 37 11 86097108 86097108 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 86097108 86097108 G T SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.95 p.W32L 1.000 superfamily_IHF-like_DNA-bd_dom superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 tier1 - - 88 0 0.00 70 4 5.41 CCR3 0 genome.wustl.edu 37 3 46306820 46306820 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 46306820 46306820 G T SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.234 p.M78I 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 40 0 0.00 32 2 5.71 CD1C 0 genome.wustl.edu 37 1 158262075 158262075 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 158262075 158262075 T A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.530 p.V177E 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 - - 43 0 0.00 29 12 29.27 CD300A 0 genome.wustl.edu 37 17 72462866 72462866 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 72462866 72462866 G T SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.24 p.L8F 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 - - 76 0 0.00 66 4 5.71 CDH10 0 genome.wustl.edu 37 5 24498600 24498600 + Missense_Mutation SNP A A C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 24498600 24498600 A C SNP CDH10 ENST00000510477 human ensembl 74_37 -1 known missense c.1285 p.C429G 1.000 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 74 0 0.00 106 10 8.55 CDH11 0 genome.wustl.edu 37 16 65025827 65025827 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 65025827 65025827 T A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.655 p.T219S 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 70 0 0.00 57 16 21.92 CDK2 0 genome.wustl.edu 37 12 56365555 56365555 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 56365555 56365555 G T SNP CDK2 ENST00000554545 human ensembl 74_37 +1 known rna NULL NULL 0.171 - - - no_errors CDK2 HGNC ENSG00000123374 tier1 - - 42 0 0.00 44 4 8.33 CDK5RAP2 0 genome.wustl.edu 37 9 123182069 123182069 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 123182069 123182069 G C SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.4174 p.Q1392E 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 56 0 0.00 43 14 24.56 CDKN1A 0 genome.wustl.edu 37 6 36652260 36652260 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 36652260 36652260 G A SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.484 p.E162K 0.319 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 20 0 0.00 7 2 22.22 CDS1 0 genome.wustl.edu 37 4 85525396 85525396 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 85525396 85525396 G T SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known nonsense c.118 p.E40* 1.000 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 tier1 - - 55 0 0.00 61 4 6.15 CENPH 0 genome.wustl.edu 37 5 68491608 68491608 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 68491608 68491608 G T SNP CENPH ENST00000283006 human ensembl 74_37 +1 known missense c.304 p.A102S 0.934 NULL pfam_CENP-H - no_errors CENPH HGNC ENSG00000153044 98 0 0.00 92 5 5.15 CHCHD2 0 genome.wustl.edu 37 7 56170694 56170694 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 56170694 56170694 C T SNP CHCHD2 ENST00000395422 human ensembl 74_37 -1 known missense c.311 p.G104E 0.943 NULL pfam_CHCH - no_errors CHCHD2 HGNC ENSG00000106153 tier1 - - 44 0 0.00 39 9 18.75 CHD5 0 genome.wustl.edu 37 1 6188558 6188558 + Splice_Site SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 6188558 6188558 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known splice_site c.3730+1 e24+1 1.000 - - - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 84 0 0.00 55 4 6.78 CHD9 0 genome.wustl.edu 37 16 53243720 53243720 + Missense_Mutation SNP A A C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 53243720 53243720 A C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.1779 p.K593N 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 12 0 0.00 6 5 45.45 CHIA 0 genome.wustl.edu 37 1 111860635 111860635 + Silent SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 111860635 111860635 C A SNP CHIA ENST00000343320 human ensembl 74_37 +1 known silent c.633 p.T211 0.999 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 53 0 0.00 34 2 5.56 CNDP2 0 genome.wustl.edu 37 18 72186240 72186240 + Missense_Mutation SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 18 72186240 72186240 A G SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.1267 p.T423A 0.998 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 tier1 - - 61 0 0.00 28 7 20.00 CNKSR3 0 genome.wustl.edu 37 6 154727685 154727685 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 154727685 154727685 G A SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known missense c.1471 p.R491W 0.988 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 tier1 - - 52 0 0.00 36 10 21.74 CNOT1 0 genome.wustl.edu 37 16 58577315 58577316 + Frame_Shift_Ins INS - - A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 58577315 58577316 - A INS CNOT1 ENST00000441024 human ensembl 74_37 -1 known frame_shift_ins c.4630_4629 p.L1543fs 0.004:0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 39 0 0.00 43 3 6.52 CNTN6 0 genome.wustl.edu 37 3 1367589 1367589 + Missense_Mutation SNP A A T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 1367589 1367589 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1037 p.N346I 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 35 0 0.00 32 8 20.00 CNTRL 0 genome.wustl.edu 37 9 123903795 123903795 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 123903795 123903795 C T SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known silent c.2620 p.L874 1.000 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 51 0 0.00 46 9 16.36 COL11A1 0 genome.wustl.edu 37 1 103379194 103379194 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 103379194 103379194 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4067 p.P1356Q 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 74 0 0.00 46 11 18.97 COL12A1 0 genome.wustl.edu 37 6 75890711 75890711 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 75890711 75890711 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.2108 p.A703V 0.999 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 tier1 - - 50 0 0.00 43 8 15.69 COL17A1 0 genome.wustl.edu 37 10 105830296 105830296 + Silent SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 105830296 105830296 G C SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.495 p.L165 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 70 0 0.00 66 14 17.50 COL19A1 0 genome.wustl.edu 37 6 70916656 70916656 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 70916656 70916656 G T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.3275 p.G1092V 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 68 0 0.00 63 12 16.00 COL3A1 0 genome.wustl.edu 37 2 189861937 189861937 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 189861937 189861937 G T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.1808 p.G603V 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 65 0 0.00 52 4 7.02 COL6A5 0 genome.wustl.edu 37 3 130188024 130188024 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 130188024 130188024 G C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.7176 p.W2392C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 60 0 0.00 43 8 15.09 COL6A5 0 genome.wustl.edu 37 3 130188259 130188259 + Nonsense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 130188259 130188259 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known nonsense c.7411 p.R2471* 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 63 0 0.00 49 16 24.62 COLQ 0 genome.wustl.edu 37 3 15540090 15540090 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 15540090 15540090 G T SNP COLQ ENST00000383781 human ensembl 74_37 -1 known missense c.5 p.T2K 0.000 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 tier1 - - 45 0 0.00 19 3 13.64 CPA3 0 genome.wustl.edu 37 3 148603919 148603919 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 148603919 148603919 C G SNP CPA3 ENST00000296046 human ensembl 74_37 +1 known missense c.1021 p.R341G 0.097 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 tier1 - - 56 0 0.00 69 12 14.81 CREBRF 0 genome.wustl.edu 37 5 172550134 172550134 + Missense_Mutation SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 172550134 172550134 T C SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.1739 p.V580A 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 tier1 - - 24 0 0.00 24 8 25.00 CSMD1 0 genome.wustl.edu 37 8 2954438 2954438 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 2954438 2954438 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.7074 p.Y2358* 0.950 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD1 HGNC ENSG00000183117 53 0 0.00 66 4 5.71 CTCFL 0 genome.wustl.edu 37 20 56083740 56083740 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 56083740 56083740 G T SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.1596 p.H532Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 tier1 - - 73 0 0.00 72 4 5.26 CTNNA3 0 genome.wustl.edu 37 10 68040237 68040237 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 68040237 68040237 C A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1875 p.M625I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 44 0 0.00 30 2 6.25 CUL7 0 genome.wustl.edu 37 6 43016152 43016152 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 43016152 43016152 G T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.2233 p.R745 0.076 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 37 0 0.00 19 2 9.52 CXCL6 0 genome.wustl.edu 37 4 74702958 74702958 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 74702958 74702958 C A SNP CXCL6 ENST00000226317 human ensembl 74_37 +1 known missense c.281 p.P94Q 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL6 HGNC ENSG00000124875 27 0 0.00 16 2 11.11 CYP24A1 0 genome.wustl.edu 37 20 52775550 52775550 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 52775550 52775550 G T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.1103 p.A368E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 tier1 - - 51 0 0.00 63 4 5.97 CYP7B1 0 genome.wustl.edu 37 8 65536985 65536985 + Silent SNP A A T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 65536985 65536985 A T SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known silent c.234 p.G78 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 64 0 0.00 56 9 13.85 DACT1 0 genome.wustl.edu 37 14 59112640 59112640 + Frame_Shift_Del DEL G G - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 59112640 59112640 G - DEL DACT1 ENST00000335867 human ensembl 74_37 +1 known frame_shift_del c.1299 p.L435fs 0.325 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 tier1 65 0 0.00 25 20 44.44 DACT1 0 genome.wustl.edu 37 14 59112641 59112641 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 59112641 59112641 C A SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known missense c.1300 p.P434T 0.319 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 tier1 - - 64 0 0.00 24 21 46.67 DCHS2 0 genome.wustl.edu 37 4 155412323 155412323 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 155412323 155412323 G T SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known missense c.185 p.S62Y 0.283 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 57 0 0.00 20 4 16.67 DFNB31 0 genome.wustl.edu 37 9 117240860 117240860 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 117240860 117240860 G T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.810 p.H270Q 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 46 0 0.00 38 4 9.52 DHODH 0 genome.wustl.edu 37 16 72055078 72055078 + Frame_Shift_Del DEL G G - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 72055078 72055078 G - DEL DHODH ENST00000219240 human ensembl 74_37 +1 known frame_shift_del c.573 p.E192fs 0.284 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 tier1 64 0 0.00 41 13 24.07 DHX57 0 genome.wustl.edu 37 2 39088678 39088678 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 39088678 39088678 C T SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.874 p.E292K 0.006 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 tier1 - - 32 0 0.00 30 7 18.92 DMBT1 0 genome.wustl.edu 37 10 124396806 124396806 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 124396806 124396806 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.6533 p.S2178L 0.006 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 38 0 0.00 23 5 17.86 DNAI2 0 genome.wustl.edu 37 17 72301522 72301522 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 72301522 72301522 C T SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known silent c.1152 p.G384 0.007 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 tier1 - - 106 0 0.00 40 16 28.57 DNMBP 0 genome.wustl.edu 37 10 101658499 101658499 + Splice_Site SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 101658499 101658499 C G SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known splice_site c.2720+1 e7+1 1.000 - - - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 42 0 0.00 30 5 14.29 DST 0 genome.wustl.edu 37 6 56473870 56473870 + Silent SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 56473870 56473870 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.5457 p.T1819 0.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 36 0 0.00 18 20 52.63 DUSP27 0 genome.wustl.edu 37 1 167096823 167096823 + Missense_Mutation SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 167096823 167096823 A G SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2455 p.T819A 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 43 0 0.00 27 13 32.50 DYNC1I2 0 genome.wustl.edu 37 2 172584463 172584463 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 172584463 172584463 G A SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known missense c.1129 p.A377T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 tier1 - - 49 0 0.00 46 15 24.59 DYNC2H1 0 genome.wustl.edu 37 11 103055753 103055753 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 103055753 103055753 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.6606 p.M2202I 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 65 0 0.00 59 22 27.16 EFNA5 0 genome.wustl.edu 37 5 106763018 106763018 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 106763018 106763018 G A SNP EFNA5 ENST00000333274 human ensembl 74_37 -1 known silent c.318 p.H106 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 tier1 - - 68 0 0.00 51 13 20.31 EGF 0 genome.wustl.edu 37 4 110897167 110897167 + Splice_Site SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 110897167 110897167 G T SNP EGF ENST00000265171 human ensembl 74_37 +1 known splice_site c.1830-1 e13-1 1.000 - - - no_errors EGF HGNC ENSG00000138798 tier1 - - 31 0 0.00 37 4 9.76 ENGASE 0 genome.wustl.edu 37 17 77082217 77082217 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 77082217 77082217 C G SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.2018 p.S673C 0.042 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 tier1 - - 50 0 0.00 36 8 18.18 ENSG00000221544 0 genome.wustl.edu 37 6 105629061 105629068 + RNA DEL TATATATA TATATATA - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 TATATATA TATATATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 105629061 105629068 TATATATA 0 DEL ENSG00000221544 ENST00000408617 human ensembl 74_37 -1 novel rna NULL NULL 0.004:0.005:0.007:0.007:0.007:0.007:0.007:0.002 - - - no_errors AL359709.1 Clone_based_ensembl_gene ENSG00000221544 9 0 0.00 16 3 15.79 ENSG00000233858 0 genome.wustl.edu 37 8 49503246 49503246 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 49503246 49503246 G T SNP ENSG00000233858 ENST00000430626 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000233858 tier1 - - 36 0 0.00 31 4 11.43 ENSG00000240291 0 genome.wustl.edu 37 10 18830178 18830178 + Splice_Site SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 18830178 18830178 C T SNP ENSG00000240291 ENST00000425669 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.002 - - - no_errors RP11-499P20.2 Clone_based_vega_gene ENSG00000240291 tier1 - - 38 0 0.00 43 9 17.31 ENSG00000255622 0 genome.wustl.edu 37 5 140537151 140537151 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 140537151 140537151 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1575 p.L525 0.937 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 198 0 0.00 122 24 16.44 EP300 0 genome.wustl.edu 37 22 41564862 41564862 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 22 41564862 41564862 C A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4163 p.P1388H 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 61 0 0.00 47 4 7.84 EPHA3 0 genome.wustl.edu 37 3 89462301 89462301 + Silent SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 89462301 89462301 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.1773 p.P591 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA3 HGNC ENSG00000044524 68 0 0.00 53 3 5.36 EPHA4 0 genome.wustl.edu 37 2 222365784 222365784 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 222365784 222365784 C T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.932 p.R311Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom 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_2,pfam_SAM_type1,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 EPHA4 HGNC ENSG00000116106 60 0 0.00 36 2 5.26 ERMP1 0 genome.wustl.edu 37 9 5787517 5787517 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 5787517 5787517 G T SNP ERMP1 ENST00000489219 human ensembl 74_37 -1 known missense c.2512 p.P838T 0.964 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 60 0 0.00 62 4 6.06 ESYT2 0 genome.wustl.edu 37 7 158527118 158527118 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 158527118 158527118 G T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known silent c.2631 p.T877 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 tier1 - - 73 0 0.00 45 4 8.16 FAM180A 0 genome.wustl.edu 37 7 135421860 135421860 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 135421860 135421860 T A SNP FAM180A ENST00000338588 human ensembl 74_37 -1 known missense c.164 p.E55V 0.998 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 43 0 0.00 30 2 6.25 FAM230A 0 genome.wustl.edu 37 22 20709402 20709402 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 22 20709402 20709402 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.1134 p.A378 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 139 0 0.00 51 19 27.14 FBXO15 0 genome.wustl.edu 37 18 71803093 71803093 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 18 71803093 71803093 G A SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.236 p.S79L 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 tier1 - - 29 0 0.00 13 4 23.53 FCHO2 0 genome.wustl.edu 37 5 72285328 72285328 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 72285328 72285328 G C SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known missense c.200 p.G67A 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 tier1 - - 42 0 0.00 45 7 13.46 FGL2 0 genome.wustl.edu 37 7 76825667 76825667 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 76825667 76825667 G T SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known missense c.1249 p.H417N 0.975 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 tier1 - - 53 0 0.00 55 4 6.78 FLJ46361 0 genome.wustl.edu 37 10 124516322 124516322 + RNA SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 124516322 124516322 C T SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.852 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 56 0 0.00 33 9 21.43 FLNB 0 genome.wustl.edu 37 3 58145286 58145286 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 58145286 58145286 G T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.6894 p.S2298 0.957 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 54 0 0.00 36 2 5.26 FMN1 0 genome.wustl.edu 37 15 33359062 33359062 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 33359062 33359062 G T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1024 p.L342M 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 36 0 0.00 36 3 7.69 FMNL3 0 genome.wustl.edu 37 12 50044990 50044990 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 50044990 50044990 G T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.1758 p.G586 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 80 0 0.00 75 4 5.00 FOXJ2 0 genome.wustl.edu 37 12 8201390 8201390 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 8201390 8201390 C T SNP FOXJ2 ENST00000162391 human ensembl 74_37 +1 known silent c.1323 p.F441 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 tier1 - - 29 0 0.00 29 8 21.62 FOXN4 0 genome.wustl.edu 37 12 109724463 109724463 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 109724463 109724463 G T SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known missense c.683 p.P228H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 tier1 - - 32 0 0.00 18 3 14.29 FOXP1 0 genome.wustl.edu 37 3 71015091 71015091 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 71015091 71015091 G T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.1839 p.T613 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 62 0 0.00 32 4 11.11 FRG1B 0 genome.wustl.edu 37 20 29612021 29612021 + RNA SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 29612021 29612021 C G SNP FRG1B ENST00000468180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 tier1 - - 123 0 0.00 73 15 16.67 FSD1L 0 genome.wustl.edu 37 9 108296830 108296830 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 108296830 108296830 G T SNP FSD1L ENST00000539376 human ensembl 74_37 +1 known missense c.641 p.R214I 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD1L HGNC ENSG00000106701 tier1 - - 32 0 0.00 33 4 10.81 FSHR 0 genome.wustl.edu 37 2 49381432 49381432 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 49381432 49381432 G A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.125 p.S42F 0.379 pfam_LRR-contain_N,smart_LRR-contain_N pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 54 0 0.00 21 4 15.38 FYCO1 0 genome.wustl.edu 37 3 46021323 46021323 + Splice_Site SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 46021323 46021323 C T SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known splice_site c.163-1 e3-1 1.000 - - - no_errors FYCO1 HGNC ENSG00000163820 tier1 - - 39 0 0.00 42 4 8.70 GABRA1 0 genome.wustl.edu 37 5 161317974 161317974 + Nonsense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 161317974 161317974 C A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known nonsense c.774 p.Y258* 0.992 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 46 0 0.00 28 11 28.21 GBP1 0 genome.wustl.edu 37 1 89520389 89520389 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 89520389 89520389 C G SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1641 p.E547D 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 tier1 - - 31 0 0.00 21 9 30.00 GBP1 0 genome.wustl.edu 37 1 89520993 89520993 + RNA SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 89520993 89520993 C G SNP GBP1 ENST00000479889 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GBP1 HGNC ENSG00000117228 tier1 - - 67 0 0.00 62 17 21.52 GIPC1 0 genome.wustl.edu 37 19 14589343 14589343 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 14589343 14589343 T A SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.887 p.N296I 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 tier1 - - 31 0 0.00 30 9 23.08 GNAO1 0 genome.wustl.edu 37 16 56370660 56370660 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 56370660 56370660 G T SNP GNAO1 ENST00000262493 human ensembl 74_37 +1 known missense c.611 p.G204V 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC ENSG00000087258 53 0 0.00 32 4 11.11 GPAT2 0 genome.wustl.edu 37 2 96688929 96688929 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 96688929 96688929 G A SNP GPAT2 ENST00000359548 human ensembl 74_37 -1 known missense c.2074 p.R692C 1.000 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC ENSG00000186281 tier1 rs201647131 - 37 0 0.00 23 6 20.69 GPR112 0 genome.wustl.edu 37 X 135429986 135429987 + Frame_Shift_Ins INS - - T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 135429986 135429987 - T INS GPR112 ENST00000370652 human ensembl 74_37 +1 known frame_shift_ins c.4121_4122 p.L1376fs 0.029:0.014 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 39 0 0.00 37 11 22.92 GPR112 0 genome.wustl.edu 37 X 135430355 135430355 + Missense_Mutation SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 135430355 135430355 T C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.4490 p.M1497T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 53 0 0.00 37 7 15.91 GPR179 0 genome.wustl.edu 37 17 36484015 36484015 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 36484015 36484015 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.5437 p.E1813K 0.073 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 11 0 0.00 11 2 15.38 GPR180 0 genome.wustl.edu 37 13 95257761 95257761 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 13 95257761 95257761 G T SNP GPR180 ENST00000376958 human ensembl 74_37 +1 known missense c.262 p.G88C 0.005 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 tier1 - - 43 0 0.00 38 4 9.52 GSTCD 0 genome.wustl.edu 37 4 106640346 106640346 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 106640346 106640346 C T SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known missense c.556 p.P186S 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 tier1 - - 41 0 0.00 54 4 6.90 GTF2H5 0 genome.wustl.edu 37 6 158613034 158613034 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 158613034 158613034 C T SNP GTF2H5 ENST00000607778 human ensembl 74_37 +1 known silent c.61 p.L21 1.000 pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5 pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5 - no_errors GTF2H5 HGNC ENSG00000272047 tier1 - - 57 0 0.00 55 4 6.78 GTF2IRD1 0 genome.wustl.edu 37 7 74016708 74016708 + Missense_Mutation SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 74016708 74016708 T C SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.2828 p.M943T 1.000 NULL pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 tier1 - - 76 0 0.00 72 4 5.26 GTF3C2 0 genome.wustl.edu 37 2 27566340 27566340 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 27566340 27566340 G A SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known nonsense c.82 p.Q28* 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 tier1 - - 48 0 0.00 26 5 15.62 GZF1 0 genome.wustl.edu 37 20 23349433 23349433 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 23349433 23349433 G T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1494 p.K498N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 65 0 0.00 66 4 5.71 HCFC1 0 genome.wustl.edu 37 X 153219809 153219809 + Silent SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 153219809 153219809 A G SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.4041 p.G1347 0.018 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 45 0 0.00 18 5 21.74 HCN3 0 genome.wustl.edu 37 1 155258694 155258694 + RNA SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 155258694 155258694 G A SNP HCN3 ENST00000492035 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HCN3 HGNC ENSG00000143630 tier1 - - 60 0 0.00 36 10 21.74 HEMGN 0 genome.wustl.edu 37 9 100692387 100692387 + Silent SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 100692387 100692387 T C SNP HEMGN ENST00000259456 human ensembl 74_37 -1 known silent c.1290 p.T430 0.869 NULL NULL - no_errors HEMGN HGNC ENSG00000136929 tier1 - - 48 0 0.00 46 4 8.00 HERC3 0 genome.wustl.edu 37 4 89608381 89608381 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 89608381 89608381 G T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.2588 p.S863I 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 tier1 - - 69 0 0.00 63 4 5.97 HES1 0 genome.wustl.edu 37 3 193854799 193854799 + Missense_Mutation SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 193854799 193854799 T C SNP HES1 ENST00000232424 human ensembl 74_37 +1 known missense c.254 p.V85A 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HES1 HGNC ENSG00000114315 tier1 - - 56 0 0.00 23 12 34.29 HMGXB4 0 genome.wustl.edu 37 22 35659857 35659857 + Nonsense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 22 35659857 35659857 C G SNP HMGXB4 ENST00000216106 human ensembl 74_37 +1 known nonsense c.249 p.Y83* 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 tier1 - - 53 0 0.00 51 14 21.54 HRCT1 0 genome.wustl.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 35906348 35906350 CTG - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.64_66 p.L25in_frame_del 0.168:0.493:0.516 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 38 0 0.00 35 4 10.26 HSD17B13 0 genome.wustl.edu 37 4 88231439 88231439 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 88231439 88231439 C T SNP HSD17B13 ENST00000328546 human ensembl 74_37 -1 known missense c.768 p.M256I 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 tier1 - - 122 0 0.00 85 24 22.02 IBSP 0 genome.wustl.edu 37 4 88732897 88732897 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 88732897 88732897 C T SNP IBSP ENST00000226284 human ensembl 74_37 +1 known silent c.789 p.Y263 0.672 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 64 0 0.00 75 4 5.06 INPP5E 0 genome.wustl.edu 37 9 139327463 139327463 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 139327463 139327463 G T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known silent c.1224 p.G408 0.769 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 48 0 0.00 30 4 11.76 INSR 0 genome.wustl.edu 37 19 7172394 7172394 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 7172394 7172394 G T SNP INSR ENST00000302850 human ensembl 74_37 -1 known nonsense c.1175 p.S392* 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 52 0 0.00 46 3 6.12 INTS7 0 genome.wustl.edu 37 1 212149950 212149950 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 212149950 212149950 G T SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known missense c.1435 p.R479S 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 tier1 - - 45 0 0.00 39 4 9.30 IQSEC2 0 genome.wustl.edu 37 X 53268414 53268414 + Silent SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 53268414 53268414 G C SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.3078 p.P1026 0.970 smart_Pleckstrin_homology pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 tier1 - - 104 0 0.00 71 22 23.66 ITGAV 0 genome.wustl.edu 37 2 187495554 187495554 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 187495554 187495554 G A SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.554 p.C185Y 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 - - 35 0 0.00 24 10 29.41 IWS1 0 genome.wustl.edu 37 2 128262391 128262391 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 128262391 128262391 G T SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.1088 p.S363Y 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 48 0 0.00 42 4 8.70 KCNH2 0 genome.wustl.edu 37 7 150642567 150642567 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 150642567 150642567 C T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.3366 p.P1122 0.020 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 - - 55 0 0.00 29 7 19.44 KCNMA1 0 genome.wustl.edu 37 10 78778787 78778787 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 78778787 78778787 C A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2011 p.A671S 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 52 0 0.00 49 11 18.33 KCNU1 0 genome.wustl.edu 37 8 36671820 36671820 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 36671820 36671820 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.828 p.T276 0.972 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 74 0 0.00 73 5 6.41 KCTD3 0 genome.wustl.edu 37 1 215793669 215793669 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 215793669 215793669 G C SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.2157 p.L719F 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 tier1 - - 42 0 0.00 38 6 13.64 KDM3B 0 genome.wustl.edu 37 5 137727938 137727939 + Frame_Shift_Ins INS - - C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 137727938 137727939 - C INS KDM3B ENST00000314358 human ensembl 74_37 +1 known frame_shift_ins c.2617_2618 p.L875fs 0.986:0.996 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 25 0 0.00 19 2 9.52 KIAA1257 0 genome.wustl.edu 37 3 128711907 128711907 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 128711907 128711907 G T SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known missense c.241 p.L81M 0.392 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 tier1 - - 30 0 0.00 22 4 15.38 KIAA1462 0 genome.wustl.edu 37 10 30315887 30315887 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 30315887 30315887 G T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3190 p.L1064I 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 tier1 - - 32 0 0.00 22 4 15.38 KIF22 0 genome.wustl.edu 37 16 29811283 29811283 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 29811283 29811283 G T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.1194 p.E398D 0.996 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 40 0 0.00 37 4 9.76 KIF23 0 genome.wustl.edu 37 15 69733338 69733338 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 69733338 69733338 G T SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2299 p.G767W 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 tier1 - - 30 0 0.00 24 4 14.29 KMT2D 0 genome.wustl.edu 37 12 49422901 49422901 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 49422901 49422901 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.14194 p.Q4732* 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_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 61 0 0.00 21 5 19.23 KMT2D 0 genome.wustl.edu 37 12 49422902 49422902 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 49422902 49422902 C A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.14193 p.E4731D 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_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 61 0 0.00 21 5 19.23 KRT222 0 genome.wustl.edu 37 17 38821286 38821286 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 38821286 38821286 C G SNP KRT222 ENST00000394052 human ensembl 74_37 -1 known missense c.66 p.Q22H 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 41 0 0.00 34 3 8.11 LAMC3 0 genome.wustl.edu 37 9 133948140 133948140 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 133948140 133948140 G T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.3335 p.C1112F 0.995 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 46 0 0.00 31 9 22.50 LCN8 0 genome.wustl.edu 37 9 139650774 139650774 + RNA SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 139650774 139650774 G A SNP LCN8 ENST00000482893 human ensembl 74_37 -1 known rna NULL NULL 0.163 - - - no_errors LCN8 HGNC ENSG00000204001 tier1 - - 182 0 0.00 148 8 5.13 LETMD1 0 genome.wustl.edu 37 12 51450147 51450147 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 51450147 51450147 G T SNP LETMD1 ENST00000550100 human ensembl 74_37 +1 known missense c.289 p.G97C 0.987 NULL NULL - no_errors LETMD1 HGNC ENSG00000050426 tier1 - - 28 0 0.00 24 4 14.29 LILRA2 0 genome.wustl.edu 37 19 55086220 55086220 + Silent SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 55086220 55086220 C A SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known silent c.375 p.L125 0.305 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 tier1 - - 265 0 0.00 120 48 28.57 LINC00710 0 genome.wustl.edu 37 10 10986282 10986282 + RNA SNP T T G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 10986282 10986282 T G SNP LINC00710 ENST00000428520 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors LINC00710 HGNC ENSG00000229240 tier1 - - 24 0 0.00 25 9 26.47 LOC285556 0 genome.wustl.edu 37 4 100575648 100575648 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 100575648 100575648 C A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.158 p.G53V 0.486 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 125 0 0.00 88 21 19.27 LPPR3 0 genome.wustl.edu 37 19 821508 821508 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 821508 821508 G A SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known silent c.52 p.L18 0.998 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 tier1 - - 91 0 0.00 37 7 15.91 LRRC37BP1 0 genome.wustl.edu 37 17 28964385 28964385 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 28964385 28964385 G T SNP LRRC37BP1 ENST00000417404 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors LRRC37BP1 HGNC ENSG00000250462 tier1 - - 42 0 0.00 26 6 18.75 LRRC3B 0 genome.wustl.edu 37 3 26751271 26751271 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 26751271 26751271 G T SNP LRRC3B ENST00000396641 human ensembl 74_37 +1 known missense c.108 p.K36N 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3B HGNC ENSG00000179796 tier1 - - 35 0 0.00 46 4 8.00 LYPD3 0 genome.wustl.edu 37 19 43965593 43965593 + Frame_Shift_Del DEL C C - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 43965593 43965593 C - DEL LYPD3 ENST00000244333 human ensembl 74_37 -1 known frame_shift_del c.951 p.Q319fs 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 tier1 63 0 0.00 28 3 9.68 MACROD2 0 genome.wustl.edu 37 20 14830575 14830575 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 14830575 14830575 G T SNP MACROD2 ENST00000463861 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 57 0 0.00 58 4 6.45 MAP2K2 0 genome.wustl.edu 37 19 4090621 4090621 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 4090621 4090621 C T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known missense c.1178 p.G393D 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 88 0 0.00 54 4 6.90 MAP3K4 0 genome.wustl.edu 37 6 161510458 161510458 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 161510458 161510458 G T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.2928 p.Q976H 1.000 NULL 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 MAP3K4 HGNC ENSG00000085511 tier1 - - 28 0 0.00 37 4 9.76 MAPK10 0 genome.wustl.edu 37 4 86952542 86952542 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 86952542 86952542 G T SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.1153 p.H385N 1.000 superfamily_Kinase-like_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 - - 62 0 0.00 33 4 10.81 MARCH6 0 genome.wustl.edu 37 5 10382027 10382027 + Silent SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 10382027 10382027 A G SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.306 p.A102 0.966 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 28 0 0.00 31 7 18.42 MCTP2 0 genome.wustl.edu 37 15 95013620 95013620 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 95013620 95013620 G A SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.2419 p.A807T 0.997 pfam_PRibTrfase_C pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 tier1 - - 40 0 0.00 36 4 10.00 MDH1B 0 genome.wustl.edu 37 2 207619836 207619836 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 207619836 207619836 C T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.807 p.M269I 0.004 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 32 0 0.00 24 2 7.69 MED12 0 genome.wustl.edu 37 X 70339933 70339933 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 70339933 70339933 G T SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.466 p.A156S 1.000 pfam_Mediator_Med12 pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 - - 37 0 0.00 41 9 18.00 MEGF6 0 genome.wustl.edu 37 1 3431144 3431144 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 3431144 3431144 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known nonsense c.823 p.Q275* 0.246 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 29 0 0.00 7 5 41.67 MFNG 0 genome.wustl.edu 37 22 37875509 37875509 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 22 37875509 37875509 G A SNP MFNG ENST00000438891 human ensembl 74_37 -1 known missense c.386 p.T129I 1.000 NULL pfam_Fringe-like - no_errors MFNG HGNC ENSG00000100060 tier1 - - 103 0 0.00 57 15 20.83 MID2 0 genome.wustl.edu 37 X 107084038 107084038 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 107084038 107084038 G A SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.143 p.S48N 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 tier1 - - 42 0 0.00 23 12 34.29 MIOX 0 genome.wustl.edu 37 22 50926323 50926323 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 22 50926323 50926323 G T SNP MIOX ENST00000216075 human ensembl 74_37 +1 known missense c.186 p.Q62H 1.000 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 tier1 - - 54 0 0.00 28 4 12.50 MIPEP 0 genome.wustl.edu 37 13 24443488 24443488 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 13 24443488 24443488 C A SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.886 p.V296L 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 tier1 - - 80 0 0.00 39 10 20.41 MIR3648 0 genome.wustl.edu 37 21 9825977 9825977 + RNA SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 21 9825977 9825977 T C SNP MIR3648 ENST00000581792 human ensembl 74_37 +1 known rna NULL NULL 0.075 - - - no_errors MIR3648 HGNC ENSG00000264462 tier1 - - 42 0 0.00 18 6 25.00 MIR497HG 0 genome.wustl.edu 37 17 6920512 6920512 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 6920512 6920512 G T SNP MIR497HG ENST00000443997 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR497HG HGNC ENSG00000267532 tier1 - - 57 0 0.00 36 4 10.00 MST1L 0 genome.wustl.edu 37 1 17087349 17087349 + RNA SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 17087349 17087349 T C SNP MST1L ENST00000545160 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MST1L HGNC ENSG00000186715 tier1 - - 404 0 0.00 318 19 5.64 MUC12 0 genome.wustl.edu 37 7 100634150 100634150 + Silent SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 100634150 100634150 C A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.306 p.T102 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 142 0 0.00 91 29 24.17 MYB 0 genome.wustl.edu 37 6 135521339 135521339 + Splice_Site SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 135521339 135521339 T C SNP MYB ENST00000341911 human ensembl 74_37 +1 known splice_site c.1824+2 e12+2 1.000 - - - no_errors MYB HGNC ENSG00000118513 tier1 - - 65 0 0.00 89 9 9.18 MYO5A 0 genome.wustl.edu 37 15 52676452 52676452 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 52676452 52676452 G A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1820 p.S607L 0.135 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 tier1 - - 85 0 0.00 60 15 20.00 MZB1 0 genome.wustl.edu 37 5 138725510 138725512 + In_Frame_Del DEL CAG CAG - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 138725510 138725512 CAG - DEL MZB1 ENST00000503481 human ensembl 74_37 -1 known in_frame_del c.36_34 p.L12in_frame_del 0.366:0.352:0.265 NULL NULL - no_errors MZB1 HGNC ENSG00000170476 tier1 24 0 0.00 17 3 15.00 NACAD 0 genome.wustl.edu 37 7 45125071 45125071 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 45125071 45125071 G A SNP NACAD ENST00000490531 human ensembl 74_37 -1 known silent c.708 p.L236 1.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 tier1 - - 82 0 0.00 48 6 11.11 NAE1 0 genome.wustl.edu 37 16 66850909 66850909 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 66850909 66850909 G T SNP NAE1 ENST00000290810 human ensembl 74_37 -1 known missense c.707 p.T236K 0.224 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB - no_errors NAE1 HGNC ENSG00000159593 tier1 - - 79 0 0.00 71 4 5.33 NAGS 0 genome.wustl.edu 37 17 42084980 42084980 + Silent SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 42084980 42084980 G C SNP NAGS ENST00000293404 human ensembl 74_37 +1 known silent c.1290 p.L430 1.000 pfam_DUF619,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 tier1 - - 24 0 0.00 14 7 33.33 NAT14 0 genome.wustl.edu 37 19 55998266 55998266 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 55998266 55998266 G T SNP NAT14 ENST00000205194 human ensembl 74_37 +1 known missense c.564 p.E188D 0.991 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT14 HGNC ENSG00000090971 tier1 - - 29 0 0.00 7 3 30.00 NAV3 0 genome.wustl.edu 37 12 78511809 78511809 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 78511809 78511809 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known silent c.2772 p.L924 0.998 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 42 0 0.00 30 4 11.76 NCOA2 0 genome.wustl.edu 37 8 71126198 71126198 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 71126198 71126198 G T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.199 p.P67T 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom 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 NCOA2 HGNC ENSG00000140396 tier1 - - 67 0 0.00 49 7 12.50 NCOR2 0 genome.wustl.edu 37 12 124824597 124824597 + Frame_Shift_Del DEL T T - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 124824597 124824597 T - DEL NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_del c.5663 p.K1888fs 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 54 0 0.00 19 2 9.52 NDNF 0 genome.wustl.edu 37 4 121958158 121958158 + Missense_Mutation SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 121958158 121958158 A G SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.968 p.M323T 0.668 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 18 0 0.00 13 2 13.33 NDST2 0 genome.wustl.edu 37 10 75563503 75563503 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 75563503 75563503 G T SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known nonsense c.1971 p.Y657* 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 74 0 0.00 73 4 5.19 NEURL 0 genome.wustl.edu 37 10 105349417 105349418 + Frame_Shift_Ins INS - - GTAA TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 105349417 105349418 - GTAA INS NEURL ENST00000369780 human ensembl 74_37 +1 known frame_shift_ins c.1486_1487 p.T497fs 0.998:1.000 NULL pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 tier1 51 0 0.00 27 3 10.00 NLGN3 0 genome.wustl.edu 37 X 70367646 70367646 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 70367646 70367646 C A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.47 p.P16H 0.935 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 tier1 - - 81 0 0.00 35 12 25.53 NOP14 0 genome.wustl.edu 37 4 2955331 2955331 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 2955331 2955331 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known silent c.654 p.T218 0.013 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 - - 35 0 0.00 27 4 12.90 NPC1L1 0 genome.wustl.edu 37 7 44561742 44561742 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 44561742 44561742 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.2737 p.E913K 0.001 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 tier1 - - 52 0 0.00 68 12 15.00 NPLOC4 0 genome.wustl.edu 37 17 79564312 79564312 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 79564312 79564312 C T SNP NPLOC4 ENST00000374747 human ensembl 74_37 -1 known missense c.952 p.E318K 1.000 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 tier1 - - 51 0 0.00 43 10 18.87 NPR1 0 genome.wustl.edu 37 1 153653735 153653735 + Missense_Mutation SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 153653735 153653735 A G SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1001 p.Y334C 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 34 0 0.00 21 3 12.50 NUP155 0 genome.wustl.edu 37 5 37304888 37304888 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 37304888 37304888 G T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.3115 p.L1039I 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 tier1 - - 41 0 0.00 60 4 6.25 NXPH2 0 genome.wustl.edu 37 2 139428697 139428697 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 139428697 139428697 G A SNP NXPH2 ENST00000272641 human ensembl 74_37 -1 known missense c.590 p.A197V 0.996 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 24 0 0.00 28 2 6.67 OBSCN 0 genome.wustl.edu 37 1 228467709 228467709 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 228467709 228467709 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.7584 p.L2528 0.015 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_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 tier1 - - 30 0 0.00 19 5 20.83 OIT3 0 genome.wustl.edu 37 10 74684045 74684045 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 74684045 74684045 C T SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.1010 p.P337L 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 tier1 - - 70 0 0.00 33 16 32.65 OR1E1 0 genome.wustl.edu 37 17 3301281 3301281 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 3301281 3301281 G T SNP OR1E1 ENST00000322608 human ensembl 74_37 -1 known missense c.424 p.L142I 0.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 87 0 0.00 56 5 8.20 OR4K2 0 genome.wustl.edu 37 14 20345037 20345037 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 20345037 20345037 G A SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.611 p.G204D 0.999 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 tier1 - - 41 0 0.00 15 3 16.67 OR52I2 0 genome.wustl.edu 37 11 4608080 4608080 + Missense_Mutation SNP T T C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 4608080 4608080 T C SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known missense c.38 p.I13T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I2 HGNC ENSG00000226288 tier1 - - 35 0 0.00 36 6 14.29 OVGP1 0 genome.wustl.edu 37 1 111964264 111964264 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 111964264 111964264 C A SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.640 p.D214Y 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 tier1 - - 49 0 0.00 50 10 16.67 P4HA2 0 genome.wustl.edu 37 5 131528849 131528850 + RNA INS - - C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 131528849 131528850 - C INS P4HA2 ENST00000506807 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors P4HA2 HGNC ENSG00000072682 tier1 29 0 0.00 22 2 8.33 PACRG 0 genome.wustl.edu 37 6 163510422 163510422 + Missense_Mutation SNP A A T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 163510422 163510422 A T SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.595 p.I199F 1.000 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 tier1 - - 54 0 0.00 37 21 36.21 PADI6 0 genome.wustl.edu 37 1 17698739 17698739 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 17698739 17698739 G T SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 41 0 0.00 45 4 8.16 PARD3B 0 genome.wustl.edu 37 2 206041301 206041301 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 206041301 206041301 G T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.1924 p.G642C 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 44 0 0.00 21 2 8.70 PARP1 0 genome.wustl.edu 37 1 226551783 226551783 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 226551783 226551783 G T SNP PARP1 ENST00000463968 human ensembl 74_37 -1 known rna NULL NULL 0.835 - - - no_errors PARP1 HGNC ENSG00000143799 tier1 - - 55 0 0.00 47 4 7.84 PARP16 0 genome.wustl.edu 37 15 65553309 65553309 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 65553309 65553309 G C SNP PARP16 ENST00000261888 human ensembl 74_37 -1 known missense c.747 p.D249E 0.533 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 tier1 - - 56 0 0.00 31 4 11.43 PAXIP1 0 genome.wustl.edu 37 7 154760285 154760285 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 154760285 154760285 C G SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.1626 p.Q542H 0.930 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 22 0 0.00 13 2 13.33 PCDH11X 0 genome.wustl.edu 37 X 91642828 91642828 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 91642828 91642828 G T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3239 p.S1080I 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 83 0 0.00 68 4 5.56 PCDH17 0 genome.wustl.edu 37 13 58299063 58299063 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 13 58299063 58299063 C A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3115 p.P1039T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 30 0 0.00 13 4 22.22 PCDH19 0 genome.wustl.edu 37 X 99661722 99661722 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 99661722 99661722 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.1874 p.R625K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 37 0 0.00 24 6 20.00 PCDHB6 0 genome.wustl.edu 37 5 140530577 140530577 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 140530577 140530577 G T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known nonsense c.739 p.E247* 0.966 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 31 0 0.00 41 4 8.89 PCDHB7 0 genome.wustl.edu 37 5 140554584 140554584 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 140554584 140554584 G T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2168 p.C723F 0.032 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 85 0 0.00 51 14 21.54 PCDHGB2 0 genome.wustl.edu 37 5 140741730 140741730 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 140741730 140741730 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.2028 p.S676 0.048 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 49 0 0.00 33 2 5.71 PCSK7 0 genome.wustl.edu 37 11 117098032 117098032 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 117098032 117098032 C T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.610 p.E204K 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 tier1 - - 31 0 0.00 23 10 30.30 PDXK 0 genome.wustl.edu 37 21 45152521 45152521 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 21 45152521 45152521 C T SNP PDXK ENST00000327574 human ensembl 74_37 +1 putative missense c.263 p.S88L 0.000 NULL NULL - no_errors PDXK HGNC ENSG00000160209 tier1 - - 62 0 0.00 49 6 10.91 PHF16 0 genome.wustl.edu 37 X 46917885 46917885 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 46917885 46917885 G A SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known silent c.1878 p.P626 0.024 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 tier1 - - 38 0 0.00 25 10 28.57 PLBD2 0 genome.wustl.edu 37 12 113824744 113824744 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 113824744 113824744 C T SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known missense c.1289 p.S430F 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 tier1 - - 32 0 0.00 18 10 35.71 PLCH1 0 genome.wustl.edu 37 3 155282725 155282725 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 155282725 155282725 C G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1012 p.E338Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 42 0 0.00 36 19 34.55 PLK3 0 genome.wustl.edu 37 1 45270777 45270778 + RNA INS - - A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 45270777 45270778 - A INS PLK3 ENST00000461769 human ensembl 74_37 +1 known rna NULL NULL 0.017:0.019 - - - no_errors PLK3 HGNC ENSG00000173846 tier1 20 0 0.00 13 3 18.75 PNLIPRP1 0 genome.wustl.edu 37 10 118354274 118354274 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 118354274 118354274 C G SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known missense c.363 p.I121M 0.929 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 tier1 - - 55 0 0.00 43 11 20.37 POU6F1 0 genome.wustl.edu 37 12 51586185 51586185 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 51586185 51586185 C T SNP POU6F1 ENST00000333640 human ensembl 74_37 -1 known missense c.319 p.A107T 0.044 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 31 0 0.00 28 3 9.68 PPM1D 0 genome.wustl.edu 37 17 58700916 58700916 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 58700916 58700916 C T SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known silent c.507 p.S169 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 tier1 - - 53 0 0.00 51 18 25.71 PPOX 0 genome.wustl.edu 37 1 161140274 161140274 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 161140274 161140274 G T SNP PPOX ENST00000352210 human ensembl 74_37 +1 known nonsense c.1063 p.E355* 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 32 0 0.00 21 5 19.23 PRB1 0 genome.wustl.edu 37 12 11506274 11506274 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 11506274 11506274 G C SNP PRB1 ENST00000500254 human ensembl 74_37 -1 known missense c.364 p.P122A 0.000 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 tier1 - - 103 0 0.00 92 5 5.15 PRDM6 0 genome.wustl.edu 37 5 122495267 122495267 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 122495267 122495267 G T SNP PRDM6 ENST00000407847 human ensembl 74_37 +1 known missense c.1088 p.W363L 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 tier1 - - 77 0 0.00 66 4 5.71 PRKCSH 0 genome.wustl.edu 37 19 11558541 11558541 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 11558541 11558541 G T SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.1042 p.A348S 0.921 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 tier1 - - 41 0 0.00 30 4 11.76 PRMT5 0 genome.wustl.edu 37 14 23392262 23392262 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 23392262 23392262 C T SNP PRMT5 ENST00000324366 human ensembl 74_37 -1 known missense c.1483 p.E495K 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC ENSG00000100462 tier1 - - 37 0 0.00 20 14 41.18 PRR4 0 genome.wustl.edu 37 12 11002053 11002053 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 11002053 11002053 G T SNP PRR4 ENST00000542658 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PRR4 HGNC ENSG00000111215 tier1 - - 66 0 0.00 61 4 6.15 PRSS38 0 genome.wustl.edu 37 1 228033281 228033281 + Frame_Shift_Del DEL G G - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 228033281 228033281 G - DEL PRSS38 ENST00000366757 human ensembl 74_37 +1 known frame_shift_del c.694 p.D233fs 0.942 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 tier1 48 0 0.00 28 2 6.67 PTPRS 0 genome.wustl.edu 37 19 5244258 5244258 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 5244258 5244258 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.1227 p.I409 0.925 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 rs2230609 - 89 0 0.00 43 12 21.82 PVRL1 0 genome.wustl.edu 37 11 119545303 119545303 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 119545303 119545303 C T SNP PVRL1 ENST00000340882 human ensembl 74_37 -1 known silent c.1058 p.*353 0.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 tier1 - - 68 0 0.00 54 16 22.86 PVRL1 0 genome.wustl.edu 37 11 119545984 119545984 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 119545984 119545984 C G SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known missense c.888 p.Q296H 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 tier1 - - 79 0 0.00 57 25 30.49 RB1 0 genome.wustl.edu 37 13 49030486 49030486 + Splice_Site SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 13 49030486 49030486 G T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site c.1960+1 e19+1 1.000 - - - no_errors RB1 HGNC ENSG00000139687 30 0 0.00 27 2 6.90 RBM10 0 genome.wustl.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 47030561 47030563 GGA - DEL RBM10 ENST00000377604 human ensembl 74_37 +1 known in_frame_del c.336_338 p.E116in_frame_del 1.000:1.000:1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 49 0 0.00 23 3 11.54 REG3G 0 genome.wustl.edu 37 2 79254209 79254209 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 79254209 79254209 G T SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.245 p.G82V 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 tier1 - - 72 0 0.00 33 11 25.00 RELT 0 genome.wustl.edu 37 11 73104900 73104900 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 73104900 73104900 G A SNP RELT ENST00000064780 human ensembl 74_37 +1 known missense c.644 p.R215Q 0.008 NULL pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 tier1 - - 52 0 0.00 41 7 14.58 REN 0 genome.wustl.edu 37 1 204131165 204131165 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 204131165 204131165 G A SNP REN ENST00000272190 human ensembl 74_37 -1 known silent c.225 p.S75 0.344 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 tier1 - - 69 0 0.00 40 14 25.93 RGMA 0 genome.wustl.edu 37 15 93595305 93595305 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 93595305 93595305 G A SNP RGMA ENST00000329082 human ensembl 74_37 -1 known missense c.563 p.P188L 1.000 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 tier1 - - 52 0 0.00 25 10 28.57 RIN2 0 genome.wustl.edu 37 20 19982600 19982600 + RNA SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 19982600 19982600 G T SNP RIN2 ENST00000484638 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 53 0 0.00 21 3 12.50 RLTPR 0 genome.wustl.edu 37 16 67682606 67682606 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 67682606 67682606 C T SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known silent c.1458 p.L486 0.653 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 tier1 - - 32 0 0.00 16 4 20.00 RNASE2 0 genome.wustl.edu 37 14 21424157 21424157 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 21424157 21424157 C A SNP RNASE2 ENST00000304625 human ensembl 74_37 +1 known missense c.227 p.A76D 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE2 HGNC ENSG00000169385 tier1 - - 75 0 0.00 22 16 42.11 RNF208 0 genome.wustl.edu 37 9 140115495 140115495 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 9 140115495 140115495 G T SNP RNF208 ENST00000391553 human ensembl 74_37 -1 known missense c.170 p.T57N 1.000 NULL pfscan_Znf_RING - no_errors RNF208 HGNC ENSG00000212864 53 0 0.00 40 3 6.98 RPL32 0 genome.wustl.edu 37 3 12877607 12877607 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 12877607 12877607 C T SNP RPL32 ENST00000396953 human ensembl 74_37 -1 known missense c.394 p.E132K 1.000 superfamily_Ribosomal_L32e pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e - no_errors RPL32 HGNC ENSG00000144713 tier1 - - 74 0 0.00 47 21 30.88 RPP25 0 genome.wustl.edu 37 15 75248376 75248376 + Silent SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 75248376 75248376 C G SNP RPP25 ENST00000322177 human ensembl 74_37 -1 known silent c.549 p.A183 0.098 NULL pfam_DNA/RNA-bd_Alba-like - no_errors RPP25 HGNC ENSG00000178718 tier1 - - 48 0 0.00 26 7 20.59 RPUSD2 0 genome.wustl.edu 37 15 40861732 40861732 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 40861732 40861732 G C SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.196 p.E66Q 0.015 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 tier1 - - 61 0 0.00 29 7 19.44 SAMD9L 0 genome.wustl.edu 37 7 92762448 92762448 + Frame_Shift_Del DEL A A - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 92762448 92762448 A - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.2837 p.L946fs 0.997 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 15 0 0.00 12 2 14.29 SBNO1 0 genome.wustl.edu 37 12 123798200 123798200 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 123798200 123798200 G T SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.3187 p.P1063T 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 tier1 - - 37 0 0.00 40 4 9.09 SCN9A 0 genome.wustl.edu 37 2 167133514 167133514 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 167133514 167133514 G A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known silent c.2856 p.V952 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 89 0 0.00 58 13 18.31 SERPINA6 0 genome.wustl.edu 37 14 94770818 94770818 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 94770818 94770818 G T SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known silent c.1155 p.I385 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 tier1 - - 78 0 0.00 72 4 5.26 SERTAD2 0 genome.wustl.edu 37 2 64863890 64863890 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 64863890 64863890 G T SNP SERTAD2 ENST00000313349 human ensembl 74_37 -1 known missense c.116 p.T39N 1.000 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 tier1 - - 46 0 0.00 40 4 9.09 SFTPA2 0 genome.wustl.edu 37 10 81319210 81319210 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 81319210 81319210 G A SNP SFTPA2 ENST00000372325 human ensembl 74_37 -1 known silent c.30 p.L10 0.114 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC ENSG00000185303 tier1 - - 54 0 0.00 26 11 29.73 SH2D3A 0 genome.wustl.edu 37 19 6752623 6752623 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 6752623 6752623 C T SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.1712 p.R571H 0.741 smart_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 tier1 - - 90 0 0.00 36 19 34.55 SIGLEC10 0 genome.wustl.edu 37 19 51914441 51914441 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 51914441 51914441 G T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.2006 p.T669K 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 63 0 0.00 52 3 5.45 SIX1 0 genome.wustl.edu 37 14 61115638 61115638 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 61115638 61115638 C T SNP SIX1 ENST00000247182 human ensembl 74_37 -1 known silent c.270 p.A90 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX1 HGNC ENSG00000126778 44 0 0.00 34 2 5.56 SLC19A1 0 genome.wustl.edu 37 21 46950838 46950838 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 21 46950838 46950838 G A SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.997 p.R333C 0.298 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 33 0 0.00 23 10 30.30 SLC25A21 0 genome.wustl.edu 37 14 37154021 37154021 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 37154021 37154021 G T SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.713 p.P238H 1.000 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 SLC25A21 HGNC ENSG00000183032 tier1 - - 71 0 0.00 58 4 6.45 SLC37A1 0 genome.wustl.edu 37 21 43955658 43955658 + Silent SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 21 43955658 43955658 C A SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known silent c.348 p.L116 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 tier1 rs199619177 - 96 0 0.00 54 8 12.90 SLC38A1 0 genome.wustl.edu 37 12 46582819 46582819 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 46582819 46582819 G T SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known silent c.1398 p.S466 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 tier1 - - 38 0 0.00 52 4 7.14 SLC38A4 0 genome.wustl.edu 37 12 47172402 47172402 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 47172402 47172402 C T SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.875 p.R292H 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 27 0 0.00 35 2 5.41 SLC41A1 0 genome.wustl.edu 37 1 205779531 205779531 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 205779531 205779531 C T SNP SLC41A1 ENST00000367137 human ensembl 74_37 -1 known silent c.39 p.L13 1.000 NULL pfam_SLC41_membr_dom - no_errors SLC41A1 HGNC ENSG00000133065 tier1 - - 43 0 0.00 21 7 25.00 SLC6A13 0 genome.wustl.edu 37 12 369020 369020 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 369020 369020 C T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.199 p.G67R 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 39 0 0.00 32 3 8.57 SLC6A9 0 genome.wustl.edu 37 1 44466463 44466463 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 44466463 44466463 G T SNP SLC6A9 ENST00000372306 human ensembl 74_37 -1 putative missense c.1600 p.L534I 0.933 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 74 0 0.00 70 4 5.41 SLC7A5 0 genome.wustl.edu 37 16 87885450 87885450 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 87885450 87885450 G T SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.544 p.L182I 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 85 0 0.00 48 4 7.69 SLC9A4 0 genome.wustl.edu 37 2 103141605 103141605 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 103141605 103141605 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1941 p.W647C 0.998 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 - - 41 0 0.00 21 3 12.50 SLIT2 0 genome.wustl.edu 37 4 20552484 20552484 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 20552484 20552484 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.2524 p.E842K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 30 0 0.00 28 6 17.65 SLIT2 0 genome.wustl.edu 37 4 20620418 20620418 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 4 20620418 20620418 G C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4376 p.R1459T 1.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 31 0 0.00 20 5 20.00 SMOC2 0 genome.wustl.edu 37 6 169053824 169053824 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 169053824 169053824 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.1234 p.D412N 1.000 pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_hand_dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 tier1 - - 95 0 0.00 58 9 13.43 SOX11 0 genome.wustl.edu 37 2 5832933 5832933 + Missense_Mutation SNP T T G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 5832933 5832933 T G SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.80 p.M27R 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 74 0 0.00 66 5 7.04 SPAG17 0 genome.wustl.edu 37 1 118558800 118558801 + Frame_Shift_Del DEL TT TT - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 118558800 118558801 TT - DEL SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_del c.4075_4074 p.H1360fs 0.965:0.981 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 37 0 0.00 27 8 22.86 SPATC1 0 genome.wustl.edu 37 8 145095594 145095594 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 145095594 145095594 G A SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.892 p.A298T 0.037 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 68 0 0.00 68 4 5.56 SPIN4 0 genome.wustl.edu 37 X 62570563 62570563 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 62570563 62570563 G T SNP SPIN4 ENST00000335144 human ensembl 74_37 -1 known missense c.136 p.Q46K 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN4 HGNC ENSG00000186767 tier1 - - 55 0 0.00 38 9 18.75 SPTBN5 0 genome.wustl.edu 37 15 42144894 42144894 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 42144894 42144894 G T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.10387 p.Q3463K 0.346 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 50 0 0.00 31 4 11.43 SSTR5 0 genome.wustl.edu 37 16 1129139 1129140 + In_Frame_Ins INS - - TGT TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 1129139 1129140 - TGT INS SSTR5 ENST00000293897 human ensembl 74_37 +1 known in_frame_ins c.271_272 p.92in_frame_insL 0.998:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 tier1 49 0 0.00 35 9 20.45 ST14 0 genome.wustl.edu 37 11 130058798 130058798 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 130058798 130058798 G T SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.404 p.G135V 1.000 pirsf_Peptidase_S1A_matripase,pfam_SEA_dom pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 tier1 - - 67 0 0.00 56 4 6.67 STAM2 0 genome.wustl.edu 37 2 153004816 153004817 + Splice_Site INS - - A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 153004816 153004817 - A INS STAM2 ENST00000263904 human ensembl 74_37 -1 known splice_site_ins c.126-3_126-2 e3-2 1.000:0.002 - - - no_errors STAM2 HGNC ENSG00000115145 tier1 28 0 0.00 26 2 7.14 STAU2-AS1 0 genome.wustl.edu 37 8 74332341 74332341 + RNA SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 74332341 74332341 G C SNP STAU2-AS1 ENST00000517604 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors STAU2-AS1 HGNC ENSG00000253302 tier1 - - 48 0 0.00 30 11 26.83 STK11 0 genome.wustl.edu 37 19 1206968 1206968 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 1206968 1206968 C T SNP STK11 ENST00000326873 human ensembl 74_37 +1 known missense c.56 p.S19L 0.997 NULL 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 STK11 HGNC ENSG00000118046 40 0 0.00 20 2 9.09 SUPT6H 0 genome.wustl.edu 37 17 27002162 27002162 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 27002162 27002162 G T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known nonsense c.520 p.E174* 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 11 0 0.00 26 2 7.14 SUPT7L 0 genome.wustl.edu 37 2 27883883 27883883 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 27883883 27883883 G T SNP SUPT7L ENST00000337768 human ensembl 74_37 -1 known silent c.387 p.I129 0.879 NULL pfam_BTP,smart_BTP - no_errors SUPT7L HGNC ENSG00000119760 tier1 - - 46 0 0.00 54 4 6.90 SUV420H1 0 genome.wustl.edu 37 11 67934523 67934523 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 67934523 67934523 C T SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1100 p.S367N 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 tier1 - - 63 0 0.00 43 11 20.37 SYNE1 0 genome.wustl.edu 37 6 152730801 152730801 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 152730801 152730801 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.6274 p.Q2092K 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 23 0 0.00 30 4 11.76 SYNE2 0 genome.wustl.edu 37 14 64532290 64532290 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 14 64532290 64532290 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.10353 p.L3451 0.802 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 58 0 0.00 58 4 6.45 SYT7 0 genome.wustl.edu 37 11 61286123 61286123 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 61286123 61286123 G T SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known silent c.1188 p.A396 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 tier1 - - 82 0 0.00 74 13 14.94 TAF6L 0 genome.wustl.edu 37 11 62549740 62549740 + Silent SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 62549740 62549740 C A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known silent c.762 p.I254 1.000 pfam_DUF1546 pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 56 0 0.00 31 2 6.06 TAS2R30 0 genome.wustl.edu 37 12 11286713 11286713 + Missense_Mutation SNP A A T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 11286713 11286713 A T SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known missense c.131 p.V44D 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 tier1 - - 74 0 0.00 53 21 28.38 TAS2R30 0 genome.wustl.edu 37 12 11286714 11286714 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 11286714 11286714 C G SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known missense c.130 p.V44L 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 tier1 - - 74 0 0.00 53 22 29.33 TBC1D32 0 genome.wustl.edu 37 6 121655552 121655552 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 121655552 121655552 G T SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known missense c.25 p.Q9K 0.999 NULL NULL - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 59 0 0.00 23 16 41.03 TCERG1 0 genome.wustl.edu 37 5 145834808 145834808 + Silent SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 145834808 145834808 A G SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.249 p.G83 0.999 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 - - 70 0 0.00 39 18 31.58 TENC1 0 genome.wustl.edu 37 12 53457660 53457660 + Frame_Shift_Del DEL A A - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 53457660 53457660 A - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.4254 p.K1419fs 0.996 smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 tier1 29 0 0.00 22 2 8.33 TINAG 0 genome.wustl.edu 37 6 54212285 54212285 + Missense_Mutation SNP A A G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 6 54212285 54212285 A G SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.869 p.D290G 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 tier1 - - 67 0 0.00 24 28 53.85 TLE2 0 genome.wustl.edu 37 19 3006510 3006510 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 3006510 3006510 G C SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1408 p.Q470E 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 tier1 - - 114 0 0.00 38 20 34.48 TLN2 0 genome.wustl.edu 37 15 62945485 62945485 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 15 62945485 62945485 G T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.489 p.L163F 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 42 0 0.00 47 11 18.97 TMEM145 0 genome.wustl.edu 37 19 42821103 42821103 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 42821103 42821103 C G SNP TMEM145 ENST00000301204 human ensembl 74_37 +1 known missense c.888 p.I296M 1.000 pfam_Intimal_thickness-rel_rcpt pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 61 0 0.00 25 3 10.71 TMEM45A 0 genome.wustl.edu 37 3 100295818 100295818 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 100295818 100295818 C G SNP TMEM45A ENST00000323523 human ensembl 74_37 +1 known missense c.784 p.L262V 1.000 NULL pfam_DUF716_TMEM45 - no_errors TMEM45A HGNC ENSG00000181458 tier1 - - 26 0 0.00 31 18 36.73 TMEM57 0 genome.wustl.edu 37 1 25785138 25785138 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 25785138 25785138 G T SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known silent c.909 p.V303 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 14 0 0.00 34 2 5.56 TOLLIP 0 genome.wustl.edu 37 11 1307298 1307298 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 1307298 1307298 G A SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known missense c.544 p.P182S 0.998 superfamily_C2_dom pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 tier1 - - 35 0 0.00 15 3 16.67 TP53 0 genome.wustl.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 7577022 7577022 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.916 p.R306* 1.000 NULL 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 tier1 rs121913344 - 82 0 0.00 38 12 24.00 TP53 0 genome.wustl.edu 37 17 7578439 7578439 + Frame_Shift_Del DEL T T - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 17 7578439 7578439 T - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.491 p.K164fs 1.000 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 tier1 37 0 0.00 18 11 37.93 TPO 0 genome.wustl.edu 37 2 1459852 1459852 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 1459852 1459852 G T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.617 p.R206L 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 37 0 0.00 17 14 45.16 TPRXL 0 genome.wustl.edu 37 3 14106011 14106012 + In_Frame_Ins INS - - CAG TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 3 14106011 14106012 - CAG INS TPRXL ENST00000326972 human ensembl 74_37 +1 known in_frame_ins c.335_336 p.116in_frame_insS 0.001:0.001 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 28 0 0.00 4 5 55.56 TSHB 0 genome.wustl.edu 37 1 115576687 115576687 + Nonsense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 115576687 115576687 G T SNP TSHB ENST00000256592 human ensembl 74_37 +1 known nonsense c.256 p.G86* 1.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors TSHB HGNC ENSG00000134200 tier1 - - 58 0 0.00 44 4 8.33 TTLL7 0 genome.wustl.edu 37 1 84376889 84376889 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 84376889 84376889 T A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1745 p.N582I 0.002 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 32 0 0.00 19 7 26.92 TTN 0 genome.wustl.edu 37 2 179443596 179443596 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 179443596 179443596 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60457 p.E20153K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 - - 33 0 0.00 27 9 25.00 TTN 0 genome.wustl.edu 37 2 179647024 179647024 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 179647024 179647024 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3295 p.V1099M 0.139 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 34 0 0.00 21 13 38.24 TXNDC2 0 genome.wustl.edu 37 18 9886734 9886734 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 18 9886734 9886734 C T SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known silent c.258 p.G86 0.000 NULL pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 73 0 0.00 52 3 5.45 UMOD 0 genome.wustl.edu 37 16 20355414 20355414 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 20355414 20355414 G T SNP UMOD ENST00000424589 human ensembl 74_37 -1 known silent c.1362 p.I454 0.932 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 tier1 - - 33 0 0.00 30 4 11.76 USP2 0 genome.wustl.edu 37 11 119234618 119234618 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 119234618 119234618 G T SNP USP2 ENST00000525735 human ensembl 74_37 -1 known missense c.88 p.P30T 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 91 0 0.00 63 4 5.97 USP34 0 genome.wustl.edu 37 2 61433937 61433937 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 61433937 61433937 G T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.9004 p.L3002I 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 61 0 0.00 37 2 5.13 VAX2 0 genome.wustl.edu 37 2 71160086 71160086 + Frame_Shift_Del DEL G G - TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 71160086 71160086 G - DEL VAX2 ENST00000234392 human ensembl 74_37 +1 known frame_shift_del c.625 p.G209fs 0.029 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 tier1 88 0 0.00 30 13 30.23 VDAC1 0 genome.wustl.edu 37 5 133309491 133309491 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 5 133309491 133309491 G T SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known missense c.751 p.L251I 1.000 pfam_Porin_Euk/Tom40,prints_Porin_Euk pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 56 0 0.00 56 4 6.67 WDR45 0 genome.wustl.edu 37 X 48935401 48935401 + Nonsense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 48935401 48935401 C A SNP WDR45 ENST00000322995 human ensembl 74_37 -1 known nonsense c.136 p.E46* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 tier1 - - 50 0 0.00 21 8 27.59 WNT8B 0 genome.wustl.edu 37 10 102241743 102241743 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 102241743 102241743 G C SNP WNT8B ENST00000343737 human ensembl 74_37 +1 known missense c.442 p.D148H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 tier1 - - 51 0 0.00 29 5 14.71 XPO1 0 genome.wustl.edu 37 2 61719279 61719279 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 61719279 61719279 T A SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.1778 p.Q593L 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 tier1 - - 37 0 0.00 33 13 28.26 ZC3H12C 0 genome.wustl.edu 37 11 110030138 110030138 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 110030138 110030138 G T SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.1071 p.R357S 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 tier1 - - 54 0 0.00 63 4 5.97 ZC3H15 0 genome.wustl.edu 37 2 187370557 187370557 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 187370557 187370557 G T SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.955 p.G319C 0.821 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 tier1 - - 54 0 0.00 38 4 9.52 ZCCHC11 0 genome.wustl.edu 37 1 52897011 52897011 + Missense_Mutation SNP T T A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 1 52897011 52897011 T A SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.4385 p.Q1462L 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 62 0 0.00 51 21 29.17 ZDHHC15 0 genome.wustl.edu 37 X 74644566 74644566 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 X 74644566 74644566 C A SNP ZDHHC15 ENST00000373361 human ensembl 74_37 -1 known missense c.536 p.W179L 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 tier1 - - 63 0 0.00 26 18 40.91 ZNF212 0 genome.wustl.edu 37 7 148947553 148947553 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 148947553 148947553 C T SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.328 p.R110W 1.000 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 tier1 - - 88 0 0.00 32 4 11.11 ZNF259 0 genome.wustl.edu 37 11 116653716 116653716 + Missense_Mutation SNP C C A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 11 116653716 116653716 C A SNP ZNF259 ENST00000227322 human ensembl 74_37 -1 known missense c.1011 p.E337D 1.000 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1 - no_errors ZNF259 HGNC ENSG00000109917 57 0 0.00 42 3 6.67 ZNF33A 0 genome.wustl.edu 37 10 38344263 38344263 + Missense_Mutation SNP A A T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 10 38344263 38344263 A T SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.1229 p.Q410L 1.000 pfam_Znf_C2H2,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 ZNF33A HGNC ENSG00000189180 tier1 - - 63 0 0.00 59 15 20.27 ZNF385A 0 genome.wustl.edu 37 12 54767829 54767829 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 12 54767829 54767829 C T SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known missense c.349 p.V117I 0.016 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 tier1 rs201286538 - 80 0 0.00 46 17 26.98 ZNF395 0 genome.wustl.edu 37 8 28206730 28206730 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 8 28206730 28206730 G T SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.1342 p.L448I 0.959 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 tier1 - - 49 0 0.00 32 4 11.11 ZNF587B 0 genome.wustl.edu 37 19 58352946 58352946 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 58352946 58352946 G C SNP ZNF587B ENST00000442832 human ensembl 74_37 +1 known missense c.904 p.E302Q 0.014 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 ZNF587B HGNC ENSG00000269343 tier1 - - 101 0 0.00 58 25 29.76 ZNF638 0 genome.wustl.edu 37 2 71626765 71626765 + Silent SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 2 71626765 71626765 G T SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known silent c.2577 p.V859 0.101 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 86 0 0.00 53 5 8.62 ZNF646 0 genome.wustl.edu 37 16 31088424 31088424 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 16 31088424 31088424 G T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.779 p.S260I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 60 0 0.00 36 4 10.00 ZNF676 0 genome.wustl.edu 37 19 22363643 22363643 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 22363643 22363643 C T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.876 p.S292 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 37 0 0.00 31 2 6.06 ZNF700 0 genome.wustl.edu 37 19 12060674 12060674 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 12060674 12060674 G T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1835 p.R612M 0.000 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 ZNF700 HGNC ENSG00000196757 tier1 - - 56 0 0.00 61 4 6.15 ZNF733P 0 genome.wustl.edu 37 7 62752571 62752571 + RNA SNP T T G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 7 62752571 62752571 T G SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.823 - - - no_errors ZNF733P HGNC ENSG00000185037 54 0 0.00 40 8 16.67 ZNF808 0 genome.wustl.edu 37 19 53058173 53058173 + Nonsense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 53058173 53058173 G A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known nonsense c.2004 p.W668* 0.022 pfam_Znf_C2H2,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 - - 79 0 0.00 67 4 5.63 ZNF831 0 genome.wustl.edu 37 20 57767928 57767928 + Missense_Mutation SNP G G C TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 57767928 57767928 G C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1854 p.E618D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 36 0 0.00 8 5 38.46 ZNF846 0 genome.wustl.edu 37 19 9869432 9869432 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 9869432 9869432 G T SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known missense c.321 p.S107R 0.094 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 30 0 0.00 27 2 6.90 ZSCAN5B 0 genome.wustl.edu 37 19 56701846 56701846 + Missense_Mutation SNP C C G TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 56701846 56701846 C G SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.838 p.A280P 0.003 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 ZSCAN5B HGNC ENSG00000197213 tier1 - - 112 0 0.00 100 6 5.66 ZSCAN5C 0 genome.wustl.edu 37 19 56720253 56720253 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 19 56720253 56720253 G A SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known missense c.1175 p.R392H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN5C HGNC ENSG00000204532 tier1 - - 74 0 0.00 35 9 20.45 ZSWIM3 0 genome.wustl.edu 37 20 44505581 44505581 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32802aaf-3f39-4e84-8523-63a8702ee946 79c13e3f-d511-4ccf-a158-558a49b00f43 20 44505581 44505581 G T SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.384 p.Q128H 0.972 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 36 0 0.00 31 3 8.82